20090315002 |
3316 |
G-A |
A-T |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315005 |
3327 |
A-C |
syn |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315004 |
3342 |
C-A |
syn |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315009 |
3352 |
G-A |
A-T |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315007 |
3376 |
G-A |
E-K |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315008 |
3380 |
G-A |
R-Q |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315006 |
3421 |
G-A |
V-I |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20090315003 |
3442 |
C-T |
syn |
MT-ND1 |
Uterine Leiomyomas |
Asian Indian |
20011206001 |
3351 |
C-T |
syn |
MT-ND1 |
Unknown cardio-facio-cutaneous syndrome |
Caucasian |
20070208002 |
3397 |
A-G |
M-V |
MT-ND1 |
Type 2 Diabetes Mellitus |
Ashkenazi Jew |
20041107006 |
3516 |
C-T |
syn |
MT-ND1 |
Type 2 Diabetes Mellitus |
Mongolia |
20041107002 |
3605 |
T-C |
L-P |
MT-ND1 |
Type 2 Diabetes Mellitus |
Mongolia |
20140630001 |
2523 |
C-T |
rRNA |
MT-RNR2 |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630002 |
7853 |
G-A |
V-I |
MT-CO2 |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630014 |
8760 |
T-C |
syn |
MT-ATP6 |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630005 |
15118 |
A-G |
syn |
MT-CYB |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630006 |
15404 |
T-C |
F-L |
MT-CYB |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630007 |
16092 |
T-C |
non-coding |
Control Region |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630008 |
16093 |
T-C |
non-coding |
Control Region |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20140630015 |
16422 |
T-C |
non-coding |
Control Region |
Temporal lobe epilepsy with hippocampal sclerosis |
|
20040608001 |
8236 |
A-G |
syn |
MT-CO2 |
Subfertile |
Caucasian |
20040607001 |
8271 |
A-G |
non-coding |
MT-NC7 |
Subfertile |
- |
20040608002 |
8309 |
C-T |
tRNA |
MT-TK |
Subfertile |
Caucasian |
19991118001 |
8860 |
A-G |
T-A |
MT-ATP6 |
Subfertile |
Unknown |
19991118005 |
9055 |
G-A |
A-T |
MT-ATP6 |
Subfertile |
Unknown |
19991118010 |
9377 |
G-A |
syn |
MT-CO3 |
Subfertile |
Unknown |
19991118009 |
9380 |
G-A |
syn |
MT-CO3 |
Subfertile |
Unknown |
19991118007 |
9477 |
G-A |
V-I |
MT-CO3 |
Subfertile |
Unknown |
19991118008 |
9548 |
G-A |
syn |
MT-CO3 |
Subfertile |
unknown |
19991118012 |
9941 |
A-G |
syn |
MT-CO3 |
Subfertile |
Unknown |
20010424001 |
253 |
C-A |
noncod |
D-Loop |
Sporadic Parathyroid Adenoma |
- |
20010828002 |
285 |
C-T |
noncod |
D-Loop |
Sporadic Parathyroid Adenoma |
- |
20010828003 |
1007 |
G-A |
noncod |
MT-RNR1 |
Sporadic Parathyroid Adenoma |
- |
20010828004 |
1700 |
T-C |
noncod |
MT-RNR2 |
Sporadic Parathyroid Adenoma |
- |
20010828005 |
2218 |
C-T |
noncod |
MT-RNR2 |
Sporadic Parathyroid Adenoma |
- |
20010828006 |
3160 |
A-T |
noncod |
MT-RNR2 |
Sporadic Parathyroid Adenoma |
- |
20010828007 |
3397 |
A-G |
M-V |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20010828008 |
3591 |
G-A |
P-L |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20010424002 |
4172 |
T-C |
L-P |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20010828009 |
4188 |
A-G |
syn |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20010828010 |
4216 |
T-C |
Y-H |
MT-ND1 |
Sporadic Parathyroid Adenoma |
- |
20010828011 |
4418 |
T-C |
noncod |
MT-TM |
Sporadic Parathyroid Adenoma |
- |
20010828012 |
4640 |
C-A |
I-M |
MT-ND2 |
Sporadic Parathyroid Adenoma |
- |
20010424003 |
5026 |
A-G |
H-R |
MT-ND2 |
Sporadic Parathyroid Adenoma |
- |
20010828013 |
6026 |
G-A |
syn |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20010828014 |
6570 |
G-T |
A-S |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20010828015 |
6656 |
C-T |
syn |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20010828016 |
7220 |
T-C |
syn |
MT-CO1 |
Sporadic Parathyroid Adenoma |
- |
20010828017 |
7963 |
A-G |
syn |
MT-CO2 |
Sporadic Parathyroid Adenoma |
- |
20010828018 |
8602 |
T-C |
F-L |
MT-ATP6 |
Sporadic Parathyroid Adenoma |
- |
20010828019 |
8812 |
A-G |
T-A |
MT-ATP6 |
Sporadic Parathyroid Adenoma |
- |
20010828020 |
8953 |
A-G |
I-V |
MT-ATP6 |
Sporadic Parathyroid Adenoma |
- |
20010828021 |
8987 |
A-G |
M-V |
MT-ATP6 |
Sporadic Parathyroid Adenoma |
- |
20010828022 |
9426 |
C-T |
P-S |
MT-CO3 |
Sporadic Parathyroid Adenoma |
- |
20010828024 |
9426 |
C-T |
P-S |
MT-CO3 |
Sporadic Parathyroid Adenoma |
- |
20010828025 |
9656 |
T-C |
syn |
MT-CO3 |
Sporadic Parathyroid Adenoma |
- |
20010828026 |
10325 |
G-A |
syn |
MT-ND3 |
Sporadic Parathyroid Adenoma |
- |
20010424004 |
10522 |
G-A |
G-E |
MT-ND4L |
Sporadic Parathyroid Adenoma |
- |
20010828027 |
10754 |
A-C |
syn |
MT-ND4L |
Sporadic Parathyroid Adenoma |
- |
20010828028 |
10775 |
A-G |
V-I |
MT-ND4 |
Sporadic Parathyroid Adenoma |
- |
20010828029 |
11617 |
T-C |
syn |
MT-ND4 |
Sporadic Parathyroid Adenoma |
- |
20010424005 |
12372 |
G-A |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828030 |
12879 |
T-C |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828031 |
12954 |
T-C |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828032 |
13392 |
T-C |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828033 |
13392 |
T-C |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828034 |
13422 |
A-G |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010424007 |
13577 |
T-C |
I-T |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828035 |
13708 |
G-A |
A-T |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828036 |
13743 |
T-C |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828037 |
14070 |
A-G |
syn |
MT-ND5 |
Sporadic Parathyroid Adenoma |
- |
20010828038 |
14364 |
G-A |
syn |
MT-ND6 |
Sporadic Parathyroid Adenoma |
- |
20010424008 |
14386 |
T-C |
syn |
MT-ND6 |
Sporadic Parathyroid Adenoma |
- |
20010828039 |
15148 |
G-A |
syn |
MT-CYB |
Sporadic Parathyroid Adenoma |
- |
20021231012 |
14849 |
T-C |
S-P |
MT-CYB |
Septo-optic Dysplasia |
Caucasian |
20100212001 |
12588 |
C-T |
syn |
MT-ND5 |
sensorineural hearing loss |
Caucasian |
20110204001 |
6416 |
A-G |
syn |
MT-CO1 |
sensorimotor neuropathy, myopathy and hearing loss |
Korean |
20140217002 |
217 |
T-C |
non-coding |
Control Region |
sCJD |
Han Chinese |
20140217001 |
235 |
A-G |
non-coding |
Control Region |
sCJD |
Han Chinese |
20140217018 |
6228 |
C-T |
L-F |
MT-CO1 |
sCJD |
Han Chinese |
20140217003 |
9732 |
C-T |
L-L |
MT-CO3 |
sCJD |
Han Chinese |
20140217004 |
9974 |
C-T |
I-I |
MT-CO3 |
sCJD |
Han Chinese |
20140217006 |
11375 |
A-C |
K-Q |
MT-ND4 |
sCJD |
Han Chinese |
20140217005 |
11407 |
C-T |
L-L |
MT-ND4 |
sCJD |
Han Chinese |
20140217007 |
11467 |
A-G |
L-L |
MT-ND4 |
sCJD |
Han Chinese |
20140217009 |
12297 |
T-C |
tRNA |
MT-TL2 |
sCJD |
Han Chinese |
20140217010 |
12308 |
A-G |
tRNA |
MT-TL2 |
sCJD |
Han Chinese |
20140217011 |
12326 |
A-G |
tRNA |
MT-TL2 |
sCJD |
Han Chinese |
20140217008 |
12372 |
G-A |
L-L |
MT-ND5 |
sCJD |
Han Chinese |
20140217012 |
12473 |
T-C |
I-T |
MT-ND5 |
sCJD |
Han Chinese |
20140217013 |
12631 |
T-C |
S-P |
MT-ND5 |
sCJD |
Han Chinese |
20140217019 |
14067 |
C-T |
T-T |
MT-ND5 |
sCJD |
Han Chinese |
20140217014 |
14457 |
T-C |
M-V |
MT-ND6 |
sCJD |
Han Chinese |
20140217015 |
14753 |
C-T |
P-S |
MT-CYB |
sCJD |
Han Chinese |
20140217016 |
14980 |
C-A |
I-M |
MT-CYB |
sCJD |
Han Chinese |
20140217017 |
15765 |
G-A |
G-E |
MT-CYB |
sCJD |
Han Chinese |
20080520001 |
5432 |
A-G |
syn |
MT-ND2 |
Ptosis, eye pain |
Asian |
19990721001 |
4315 |
A-G |
noncod |
MT-TI |
Psychomotor retardation |
Caucasian |
20111230002 |
786 |
G-A |
rRNA |
MT-RNR1 |
progressive non syndromic hearing loss |
Caucasian |
20060515001 |
6164 |
C-T |
syn |
MT-CO1 |
Progeria |
Caucasian |
20060515002 |
6641 |
T-A |
syn |
MT-CO1 |
Progeria |
Caucasian |
20160806002 |
8539 |
C-A |
ATP6: L-M, ATP8: I-M |
ATP8, ATP6 |
presbycusis |
Iranian |
20160806003 |
8682 |
A-G |
sym |
ATP6 |
Presbycusis |
Iranian |
20040825001 |
11404 |
A-G |
syn |
MT-ND4 |
Postural Tachycardia Syndrome (POTS) |
Caucasian |
20040825002 |
11930 |
A-G |
I-V |
MT-ND4 |
Postural Tachycardia Syndrome (POTS) |
Caucasian |
20140214004 |
15204 |
T-C |
I-T (Ile153Thr) |
MT-CYB |
Patient |
|
20040327001 |
288 |
A-G |
non-coding |
Control Region |
Pancreatic Ductal Adenocarcinoma |
Caucasian |
20040327003 |
16279 |
C-T |
non-coding |
Control Region |
Pancreatic Ductal Adenocarcinoma |
Caucasian |
20000825002 |
3547 |
A-G |
I-V |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825017 |
3635 |
G-A |
S-N |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825018 |
3670 |
G-A |
A-T |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825019 |
3670 |
G-A |
A-T |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825009 |
3992 |
C-T |
T-M |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825010 |
4024 |
A-G |
T-A |
MT-ND1 |
Pancreatic Cancer |
Caucasian |
20000825014 |
4793 |
A-G |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20000825003 |
4820 |
G-A |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20000825004 |
4977 |
T-C |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20000825011 |
5004 |
T-C |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20000825015 |
5348 |
C-T |
syn |
MT-ND2 |
Pancreatic Cancer |
Caucasian |
20000825005 |
6473 |
C-T |
syn |
MT-CO1 |
Pancreatic Cancer |
Caucasian |
20000825006 |
8957 |
T-C |
I-T |
MT-ATP6 |
Pancreatic Cancer |
Caucasian |
20000825012 |
10044 |
A-G |
noncod |
MT-TG |
Pancreatic Cancer |
Caucasian |
20000825007 |
11177 |
C-T |
P-S |
MT-ND4 |
Pancreatic Cancer |
Caucasian |
20000825020 |
13780 |
A-G |
I-V |
MT-ND5 |
Pancreatic Cancer |
Caucasian |
20000825001 |
13943 |
C-T |
M-V |
MT-ND5 |
Pancreatic Cancer |
Caucasian |
20000825013 |
14582 |
A-G |
V-A |
MT-ND6 |
Pancreatic Cancer |
Caucasian |
20000825016 |
15045 |
G-A |
R-Q |
MT-CYB |
Pancreatic Cancer |
Caucasian |
20000825008 |
15734 |
G-A |
A-T |
MT-CYB |
Pancreatic Cancer |
Caucasian |
20000825021 |
15758 |
A-G |
I-V |
MT-CYB |
Pancreatic Cancer |
Caucasian |
20100908009 |
73 |
A-G |
non-coding |
Control Region |
Oral Submucous Fibrosis |
Asian-Bengali |
20100905001 |
366 |
G-A |
non-coding |
Control Region |
Oral squamous cell carcinoma |
|
20030528078 |
33 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529017 |
34 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529018 |
43 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529043 |
48 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529001 |
53 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bihari |
20030528079 |
55 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528080 |
60 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528122 |
63 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528123 |
66 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527020 |
72 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527021 |
73 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100822001 |
73 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Indian- Bengali |
20030528124 |
74 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030529044 |
76 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529045 |
77 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529046 |
79 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528022 |
81 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529047 |
81 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528023 |
85 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529010 |
88 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528127 |
91 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030528024 |
94 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529036 |
96 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528069 |
97 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528070 |
98 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528128 |
102 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030528129 |
103 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030528130 |
104 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529019 |
105 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529037 |
108 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528025 |
109 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528131 |
114 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529011 |
119 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529048 |
121 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528132 |
122 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030528151 |
124 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527003 |
125 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528133 |
125 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030527022 |
131 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528026 |
131 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528027 |
135 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529038 |
136 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528134 |
142 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529039 |
143 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528135 |
144 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030527005 |
150 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528030 |
151 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528028 |
152 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528031 |
152 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527025 |
154 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529040 |
155 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529029 |
157 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian India |
20030529020 |
159 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529030 |
162 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528154 |
164 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529004 |
164 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bihari |
20030528029 |
165 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528136 |
172 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529032 |
173 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528118 |
174 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Malayali |
20030527035 |
178 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528119 |
178 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Malayali |
20030529013 |
180 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529023 |
186 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528033 |
193 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528054 |
195 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527006 |
204 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527027 |
204 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527007 |
206 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527008 |
209 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527010 |
224 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528056 |
226 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527037 |
227 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527038 |
228 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528057 |
229 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528058 |
231 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528035 |
237 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527039 |
238 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528036 |
238 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527040 |
239 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528037 |
257 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528085 |
260 |
G-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528001 |
263 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528086 |
263 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20101227001 |
263 |
A-G |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20030528002 |
264 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528003 |
265 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528004 |
268 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528005 |
271 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528087 |
271 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528006 |
273 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528007 |
283 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528008 |
284 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528009 |
287 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528010 |
288 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20101227002 |
489 |
T-C |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20041220011 |
1700 |
T-C |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20041220007 |
1713 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220008 |
1713 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220009 |
1715 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220005 |
1719 |
G-A |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Muslim |
20041220002 |
1780 |
T-C |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20041220004 |
1811 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Muslim |
20041220013 |
1811 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Gujarati |
20041220014 |
2361 |
G-A |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220016 |
2396 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20041220003 |
2644 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220001 |
2706 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian - Gujarati |
20041220006 |
2715 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Gujarati |
20041220015 |
3116 |
C-T |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian-Marathi |
20041220012 |
3197 |
T-C |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20041220017 |
3220 |
A-G |
rRNA |
MT-RNR2 |
Oral Cancer |
Asian Indian |
20040713001 |
3571 |
C-T |
L-F |
MT-ND1 |
Oral Cancer |
Asian |
20040713002 |
4510 |
T-G |
F-C |
MT-ND2 |
Oral Cancer |
Asian |
20040713003 |
7142 |
T-C |
syn |
MT-CO1 |
Oral Cancer |
Asian |
20041210003 |
7702 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20041210013 |
7762 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20041210007 |
7837 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20041210004 |
7843 |
A-G |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20041210006 |
7954 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20040713004 |
7961 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian |
20041210014 |
7961 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20041210012 |
7993 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20041210008 |
7999 |
T-C |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Marathi |
20041210005 |
8137 |
C-T |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Muslim |
20041210001 |
8158 |
A-G |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Bengali |
20041210010 |
8206 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian |
20041210009 |
8212 |
C-T |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Malayali |
20041210002 |
8251 |
G-A |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Bengali |
20041210011 |
8266 |
A-T |
syn |
MT-CO2 |
Oral Cancer |
Asian Indian-Gujarati |
20040209024 |
10811 |
T-C |
S-P |
MT-ND4 |
Oral Cancer |
SINDHI |
20040209025 |
10812 |
C-T |
S-F |
MT-ND4 |
Oral Cancer |
SINDHI |
20040209026 |
10814 |
A-C |
K-Q |
MT-ND4 |
Oral Cancer |
SINDHI |
20040209001 |
10817 |
A-T |
K-Term |
MT-ND4 |
Oral Cancer |
GUJARATI |
20040209011 |
10826 |
A-G |
I-V |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209028 |
10845 |
C-T |
T-I |
MT-ND4 |
Oral Cancer |
SINDHI |
20040209014 |
10850 |
A-C |
S-R |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209002 |
10873 |
T-C |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209036 |
10969 |
C-T |
syn |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209003 |
11016 |
G-A |
S-N |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209030 |
11023 |
A-G |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209016 |
11047 |
C-A |
syn |
MT-ND4 |
Oral Cancer |
MUSLIM |
20040209037 |
11054 |
C-A |
L-M |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209038 |
11067 |
A-T |
Q-L |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209039 |
11070 |
T-A |
I-N |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209040 |
11073 |
C-T |
S-F |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209041 |
11074 |
C-T |
syn |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209012 |
11075 |
T-C |
syn |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209004 |
11083 |
A-G |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209015 |
11140 |
C-G |
I-M |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209031 |
11215 |
C-T |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209033 |
11332 |
C-T |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209032 |
11339 |
T-C |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040713005 |
11407 |
C-T |
syn |
MT-ND4 |
Oral Cancer |
Asian |
20040209018 |
11467 |
A-G |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209017 |
11506 |
T-C |
syn |
MT-ND4 |
Oral Cancer |
MUSLIM |
20040209023 |
11518 |
G-A |
syn |
MT-ND4 |
Oral Cancer |
MALAYALI |
20040209042 |
11530 |
A-G |
M-Term |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209005 |
11719 |
G-A |
syn |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209006 |
11855 |
A-C |
N-H |
MT-ND4 |
Oral Cancer |
Asian Indian |
20040209021 |
11914 |
G-A |
syn |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209022 |
11969 |
G-A |
A-T |
MT-ND4 |
Oral Cancer |
MARATHI |
20040209007 |
12007 |
G-A |
syn |
MT-ND4 |
Oral Cancer |
Bengali |
20040713006 |
12284 |
C-T |
tRNA |
MT-TL2 |
Oral Cancer |
Asian |
20040713007 |
15481 |
C-T |
syn |
MT-CYB |
Oral Cancer |
Asian |
20030527028 |
16024 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528038 |
16025 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527029 |
16033 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030527030 |
16034 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528039 |
16035 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528137 |
16040 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527001 |
16051 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528088 |
16051 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030527002 |
16052 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030215001 |
16054 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528073 |
16057 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528074 |
16061 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528041 |
16067 |
C-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528102 |
16069 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528013 |
16086 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529016 |
16092 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528108 |
16093 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528126 |
16098 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Sindhi |
20030529024 |
16099 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529007 |
16100 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529033 |
16102 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529034 |
16103 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527011 |
16110 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528043 |
16111 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528060 |
16113 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528081 |
16126 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528044 |
16129 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528156 |
16134 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529041 |
16138 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528103 |
16145 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20101227005 |
16145 |
G-A |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20030529008 |
16147 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527012 |
16172 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528082 |
16181 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030529025 |
16187 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100908008 |
16189 |
T-C |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20030528075 |
16192 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529009 |
16201 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528083 |
16209 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030529014 |
16213 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528104 |
16222 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527013 |
16223 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100908006 |
16223 |
C-T |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20030528045 |
16224 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529015 |
16231 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528090 |
16234 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528105 |
16235 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527032 |
16239 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528014 |
16242 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528138 |
16256 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528106 |
16261 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100908005 |
16261 |
C-T |
non-coding |
Control Region |
Oral cancer |
Indian- Bengali |
20030528046 |
16266 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527014 |
16270 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527015 |
16274 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528076 |
16274 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528120 |
16275 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528077 |
16278 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527033 |
16289 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Bengali |
20030528015 |
16292 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528107 |
16294 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528109 |
16298 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030215002 |
16304 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528061 |
16309 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030215003 |
16311 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100908003 |
16311 |
T-C |
non-coding |
Control Region |
Oral cancer |
Asian-Bengali |
20030528047 |
16318 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528062 |
16318 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528117 |
16318 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Malayali |
20030527016 |
16319 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528048 |
16320 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528148 |
16324 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100908001 |
16325 |
T-C |
non-coding |
Control Region |
Oral cancer |
Indian-Bengali |
20030528110 |
16327 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030527017 |
16352 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528149 |
16355 |
C-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528157 |
16356 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529042 |
16359 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528049 |
16362 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528063 |
16362 |
T-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528064 |
16363 |
C-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Muslim |
20030528150 |
16390 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030529035 |
16391 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20100908002 |
16391 |
G-T |
non-coding |
Control Region |
Oral cancer |
Indian-Bengali |
20030528139 |
16399 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528091 |
16417 |
A-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528092 |
16418 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528121 |
16438 |
G-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Gujarati |
20030528016 |
16497 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528017 |
16497 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030529026 |
16518 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527018 |
16519 |
T-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030527019 |
16524 |
A-C |
non-coding |
Control Region |
Oral Cancer |
Asian Indian |
20030528018 |
16567 |
A-G |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528019 |
16568 |
T-A |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20030528020 |
16569 |
G-T |
non-coding |
Control Region |
Oral Cancer |
Asian Indian- Marathi |
20050928002 |
10230 |
G-C |
V-L |
MT-ND3 |
Optic Neuropathy, visual loss |
Caucasian |
19990323002 |
9293 |
C-T |
syn |
MT-CO3 |
Ophthalmoplegia,Deafness |
Caucasian |
20080520002 |
5558 |
A-G |
noncod |
MT-TW |
Ophthalmoparesis, single eye ptosis |
Asian |
20080520003 |
5585 |
G-A |
noncod |
MT-NC3 |
Ophthalmoparesis, single eye ptosis |
Asian |
20080520004 |
12705 |
C-T |
syn |
MT-ND5 |
Ophthalmoparesis, single eye ptosis |
Asian |
19990324003 |
15115 |
T-C |
syn |
MT-CYB |
Ocular Myopathy |
Caucasian |
19990507001 |
15244 |
A-G |
syn |
MT-CYB |
Ocular Myopathy |
Caucasian |
20091228001 |
10649 |
T-C |
syn |
MT-ND4L |
NSHL |
Caucasian |
20110105001 |
13077 |
C-T |
Leu247Leu |
MT-ND5 |
NSHL |
Caucasian |
20030428001 |
47 |
G-A |
non-coding |
Control Region |
Normal |
Kazhakh |
20030428002 |
75 |
G-A |
non-coding |
Control Region |
Normal |
Kazhakh |
20021231006 |
126 |
T-C |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20091019002 |
129 |
T-C |
noncod |
D-Loop |
Normal |
Malay |
20021231007 |
163 |
A-G |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20021231008 |
186 |
C-T |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20091019001 |
188 |
A-G |
noncod |
D-Loop |
Normal |
Malay |
20021231009 |
189 |
T-C |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20050106002 |
262 |
C-T |
non-coding |
Control Region |
Normal |
Caucasian |
20060605005 |
267 |
T-C |
non-coding |
Control Region |
Normal |
Indigenous Jehai |
20050106003 |
269 |
C-T |
non-coding |
Control Region |
Normal |
Caucasian |
20021231010 |
294 |
T-C |
noncod |
D-Loop |
Normal |
Madia Gond tribe |
20050106004 |
295 |
C-A |
non-coding |
Control Region |
Normal |
Caucasian |
20050106005 |
324 |
C-T |
non-coding |
Control Region |
Normal |
Caucasian |
20091006002 |
447 |
C-G |
noncod |
D-Loop |
Normal |
Kedah Malays |
20050106007 |
489 |
T-G |
non-coding |
Control Region |
Normal |
Caucasian |
20120119001 |
650 |
T-C |
Noncod |
MT-TF |
normal |
Indonesian |
20071219001 |
689 |
T-C |
rRNA |
MT-RNR1 |
Normal |
Caucasian |
20050919001 |
722 |
C-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050919002 |
723 |
A-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050308003 |
742 |
T-C |
rRNA |
MT-RNR1 |
Normal |
Africain |
20071219002 |
751 |
A-G |
rRNA |
MT-RNR1 |
Normal |
Caucasian |
20140721003 |
780 |
G-A |
rRNA |
MT-RNR1 |
Normal |
African |
20050919003 |
827 |
A-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050308002 |
868 |
C-T |
rRNA |
MT-RNR1 |
Normal |
Africain |
20081112001 |
930 |
G-C |
noncod |
MT-RNR1 |
Normal |
Yakut |
20050308001 |
954 |
C-T |
rRNA |
MT-RNR1 |
Normal |
Africain |
20050919004 |
1018 |
G-A |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050919005 |
1189 |
T-C |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20050919006 |
1245 |
T-G |
rRNA |
MT-RNR1 |
Normal |
Arabs |
20071219004 |
1556 |
C-T |
rRNA |
MT-RNR1 |
Normal |
Caucasian |
20050919007 |
1721 |
C-T |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919008 |
1811 |
A-G |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919009 |
1837 |
C-A |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919010 |
1845 |
C-A |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919011 |
2355 |
A-G |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919012 |
2442 |
T-C |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919013 |
2451 |
A-C |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919014 |
2505 |
A-C |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20050919015 |
2706 |
A-G |
rRNA |
MT-RNR2 |
Normal |
Arabs |
20111212002 |
3298 |
C-G |
tRNA |
MT-TL1 |
normal |
Africain |
20050919032 |
3527 |
C-A |
A-D |
MT-ND1 |
Normal |
Arabs |
20040317012 |
3597 |
C-T |
syn |
MT-ND1 |
Normal |
Saudi Arab |
20050919016 |
3847 |
T-C |
syn |
MT-ND1 |
Normal |
Arabs |
20050809001 |
3866 |
T-C |
I-T |
MT-ND1 |
Normal |
Arabs |
20120124001 |
3873 |
A-G |
syn |
MT-ND1 |
Normal |
Indonesian |
20040912001 |
3993 |
A-G |
syn |
MT-ND1 |
Normal |
Arabs |
20050813001 |
4012 |
A-G |
T-A |
MT-ND1 |
Normal |
Arabs |
20040912002 |
4013 |
C-G |
T-S |
MT-ND1 |
Normal |
Arabs |
20040317003 |
4203 |
A-G |
syn |
MT-ND1 |
Normal |
Saudi Arab |
20040317011 |
4204 |
T-C |
syn |
MT-ND1 |
Normal |
Saudi Arab |
20050813014 |
4216 |
T-C |
Y-H |
MT-ND1 |
Normal |
Arabs |
20070612001 |
4363 |
T-C |
tRNA |
MT-TQ |
Normal |
Saudi Arabs |
20110801005 |
4730 |
C-T |
syn |
MT-ND2 |
NORMAL |
ASIAN |
20050813002 |
4734 |
A-G |
T-A |
MT-ND2 |
Normal |
Arabs |
20050813003 |
4767 |
A-G |
M-V |
MT-ND2 |
Normal |
Arabs |
20050919017 |
4769 |
A-G |
syn |
MT-ND2 |
Normal |
Arabs |
20050809002 |
4904 |
C-A |
I-M |
MT-ND2 |
Normal |
Arabs |
20050809003 |
4917 |
A-G |
N-D |
MT-ND2 |
Normal |
Arabs |
20120124002 |
5213 |
|
|
|
Normal |
Indonesian |
20120124003 |
5213 |
C-G |
syn |
MT-ND2 |
Normal |
Indonesian |
20050809004 |
5263 |
C-T |
A-V |
MT-ND2 |
Normal |
Arabs |
20040317001 |
5360 |
C-T |
syn |
MT-ND2 |
Normal |
Saudi Arab |
20050813016 |
5460 |
G-A |
A-T |
MT-ND2 |
Normal |
Arabs |
20050919018 |
5836 |
A-G |
non-coding |
MT-TY |
Normal |
Arabs |
20070612002 |
5843 |
A-G |
non-coding |
MT-TY |
Normal |
Saudi Arabs |
20050919019 |
5913 |
G-A |
D-N |
MT-CO1 |
Normal |
Arabs |
20050919020 |
5981 |
T-C |
syn |
MT-CO1 |
Normal |
Arabs |
20050809005 |
6040 |
A-G |
N-S |
MT-CO1 |
Normal |
Arabs |
20110801003 |
6290 |
C-T |
syn |
MT-CO1 |
NORMAL |
ASIAN |
20070612003 |
6546 |
C-T |
L-F |
MT-CO1 |
Normal |
Saudi Arabs |
20120124004 |
6863 |
A-G |
syn |
MT-CO1 |
Normal |
Indonesian |
20050813004 |
7278 |
T-C |
F-L |
MT-CO1 |
Normal |
Arabs |
20040317010 |
7322 |
A-G |
syn |
MT-CO1 |
Normal |
Saudi Arab |
20040317002 |
7364 |
A-G |
syn |
MT-CO1 |
Normal |
Saudi Arab |
20050809006 |
7521 |
G-T |
tRNA |
MT-TD |
Normal |
Arabs |
20050809007 |
7646 |
A-C |
I-L |
MT-CO2 |
Normal |
Arabs |
20130303001 |
7762 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721001 |
7771 |
A-G |
syn |
MT-CO2 |
Normal |
African |
20140721002 |
7775 |
A-G |
syn |
MT-CO2 |
Normal |
African |
20140721006 |
7805 |
G-A |
V-I |
MT-CO2 |
Normal |
African |
20140721004 |
7819 |
C-A |
syn |
MT-CO2 |
Normal |
African |
20140721005 |
7837 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20140721007 |
7853 |
G-A |
V-I |
MT-CO2 |
Normal |
African |
20140721008 |
7861 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20110801008 |
7885 |
T-C |
syn |
MT-CO2 |
NORMAL |
ASIAN |
20120124005 |
7894 |
A-G |
syn |
MT-CO2 |
Normal |
Indonesian |
20140721009 |
7912 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721010 |
7972 |
A-G |
syn |
MT-CO2 |
Normal |
African |
20140721011 |
7984 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721012 |
8007 |
G-A |
A-G |
MT-CO2 |
Normal |
African |
20140721013 |
8014 |
A-G |
syn |
MT-CO2 |
Normal |
African |
20140721014 |
8017 |
C-A |
syn |
MT-CO2 |
Normal |
African |
20140721015 |
8020 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721016 |
8027 |
G-A |
A-T |
MT-CO2 |
Normal |
African |
20140721017 |
8047 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20140721018 |
8104 |
T-C |
syn |
MT-CO2 |
Normal |
African |
20140721019 |
8152 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721020 |
8155 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20140721021 |
8188 |
G-A |
syn |
MT-CO2 |
Normal |
African |
20050813005 |
8271 |
A-G |
non-coding |
MT-NC7 |
Normal |
Arabs |
20110801009 |
8394 |
C-T |
P-L |
MT-ATP8 |
NORMAL |
ASIAN |
20050809008 |
8566 |
A-G |
syn |
MT-ATP8 |
Normal |
Arabs |
20050809009 |
8566 |
A-G |
I-V |
MT-ATP6 |
Normal |
Arabs |
20050809010 |
8587 |
G-A |
V-M |
MT-ATP6 |
Normal |
Arabs |
20120124006 |
8652 |
A-G |
syn |
MT-ATP6 |
Normal |
Indonesian |
20120124007 |
8653 |
A-G |
syn |
MT-ATP6 |
Normal |
Indonesian |
20050809011 |
8684 |
C-T |
T-I |
MT-ATP6 |
Normal |
Arabs |
20050809012 |
8701 |
A-G |
T-A |
MT-ATP6 |
Normal |
Arabs |
20070327001 |
8741 |
T-G |
L-R |
MT-ATP6 |
Normal |
Arabs |
20070327002 |
8795 |
A-G |
H-R |
MT-ATP6 |
Normal |
Arabs |
20110801011 |
8855 |
C-T |
A-V |
MT-ATP6 |
NORMAL |
ASIAN |
20050919033 |
8877 |
T-A |
F-L |
MT-ATP6 |
Normal |
Arabs |
20070327003 |
9024 |
A-G |
syn |
MT-ATP6 |
Normal |
Arabs |
19990511001 |
9053 |
G-A |
syn |
MT-ATP6 |
Normal |
Chinese |
20080729001 |
9058 |
A-G |
T-A |
MT-ATP6 |
Normal |
Caucasian |
20070612004 |
9103 |
T-C |
F-L |
MT-ATP6 |
Normal |
Saudi Arabs |
20050809013 |
9337 |
T-C |
M-T |
MT-CO3 |
Normal |
Arabs |
20070612005 |
9438 |
G-A |
G-S |
MT-CO3 |
Normal |
Saudi Arabs |
20050919034 |
9477 |
G-A |
V-I |
MT-CO3 |
Normal |
Arabs |
20050809014 |
9539 |
A-T |
Q-H |
MT-CO3 |
Normal |
Arabs |
20110801012 |
9635 |
A-G |
syn |
MT-CO3 |
NORMAL |
ASIAN |
20050813018 |
9675 |
A-C |
N-H |
MT-CO3 |
Normal |
Arabs |
20040912003 |
9822 |
C-T |
L-F |
MT-CO3 |
Normal |
Arabs |
20050813019 |
10031 |
T-C |
tRNA |
MT-TG |
Normal |
Arabs |
20050813006 |
10034 |
T-C |
tRNA |
MT-TG |
Normal |
Arabs |
20050919035 |
10079 |
A-C |
L-F |
MT-ND3 |
Normal |
Arabs |
20050809015 |
10143 |
G-A |
G-S |
MT-ND3 |
Normal |
Arabs |
20050813007 |
10159 |
C-G |
S-C |
MT-ND3 |
Normal |
Arabs |
20050919021 |
10238 |
T-C |
syn |
MT-ND3 |
Normal |
Arabs |
20050919022 |
10262 |
A-G |
syn |
MT-ND3 |
Normal |
Arabs |
20040317004 |
10289 |
A-G |
syn |
MT-ND3 |
Normal |
Saudi Arab |
20120124008 |
10373 |
G-C |
syn |
MT-ND3 |
Normal |
Indonesian |
20050919036 |
10398 |
A-G |
T-A |
MT-ND3 |
Normal |
Arabs |
20110801004 |
10577 |
A-G |
syn |
MT-ND4L |
NORMAL |
ASIAN |
20050809016 |
10668 |
G-A |
A-T |
MT-ND4L |
Normal |
Arabs |
20040209044 |
10823 |
A-G |
M-V |
MT-ND4 |
Normal |
MARATHI |
20050813008 |
10883 |
T-A |
F-I |
MT-ND4 |
Normal |
Arabs |
20050813009 |
10885 |
T-A |
F-L |
MT-ND4 |
Normal |
Arabs |
20040209054 |
11050 |
T-C |
syn |
MT-ND4 |
Normal |
GUJARATI |
20040209051 |
11083 |
A-G |
syn |
MT-ND4 |
Normal |
MARATHI |
20040209047 |
11314 |
A-C |
E-D |
MT-ND4 |
Normal |
GUJARATI |
20070612006 |
11337 |
A-G |
N-S |
MT-ND4 |
Normal |
Saudi Arabs |
20040317005 |
11399 |
T-C |
syn |
MT-ND4 |
Normal |
Saudi Arab |
20040317006 |
11440 |
G-A |
syn |
MT-ND4 |
Normal |
Saudi Arab |
20040209050 |
11467 |
A-G |
syn |
MT-ND4 |
Normal |
MARATHI |
20040317015 |
11620 |
A-G |
syn |
MT-ND4 |
Normal |
Saudi Arab |
20040209055 |
11808 |
C-A |
T-N |
MT-ND4 |
Normal |
GUJARATI |
20040209046 |
11818 |
A-C |
syn |
MT-ND4 |
Normal |
MARATHI |
20040209048 |
11827 |
T-C |
syn |
MT-ND4 |
Normal |
GUJARATI |
20050813010 |
11830 |
T-G |
F-L |
MT-ND4 |
Normal |
Arabs |
20040317009 |
11887 |
G-A |
syn |
MT-ND4 |
Normal |
Saudi Arab |
20110801015 |
11965 |
C-G |
syn |
MT-ND4 |
NORMAL |
ASIAN |
20040209045 |
12052 |
A-G |
syn |
MT-ND4 |
Normal |
MARATHI |
20070612007 |
12841 |
A-G |
I-V |
MT-ND5 |
Normal |
Saudi Arabs |
20110801013 |
13005 |
A-G |
syn |
MT-ND5 |
NORMAL |
ASIAN |
20110801010 |
13476 |
A-G |
syn |
MT-ND5 |
NORMAL |
ASIAN |
20040317008 |
13500 |
T-C |
syn |
MT-ND5 |
Normal |
Saudi Arab |
20050919024 |
13617 |
T-C |
syn |
MT-ND5 |
Normal |
Arabs |
20050919037 |
13637 |
A-G |
Q-R |
MT-ND5 |
Normal |
Arabs |
20110801014 |
13659 |
T-C |
syn |
MT-ND5 |
NORMAL |
ASIAN |
20040317013 |
13680 |
C-T |
syn |
MT-ND5 |
Normal |
Saudi Arab |
20050813021 |
13708 |
G-A |
A-T |
MT-ND5 |
Normal |
Arabs |
20040317014 |
13752 |
T-C |
syn |
MT-ND5 |
Normal |
Saudi Arab |
20050813011 |
13780 |
A-G |
I-V |
MT-ND5 |
Normal |
Arabs |
20040912004 |
13811 |
C-G |
A-G |
MT-ND5 |
Normal |
Arabs |
20070612008 |
13813 |
G-A |
V-I |
MT-ND5 |
Normal |
Saudi Arabs |
20040912005 |
13817 |
C-T |
T-I |
MT-ND5 |
Normal |
Arabs |
20050809017 |
13934 |
C-T |
T-M |
MT-ND5 |
Normal |
Arabs |
20040317007 |
14058 |
C-T |
syn |
MT-ND5 |
Normal |
Saudi Arab |
20050919025 |
14281 |
C-A |
syn |
MT-ND6 |
Normal |
Arabs |
20111213002 |
14788 |
T-G |
I-M |
MT-CYB |
normal |
Africain |
20111213005 |
14828 |
T-G |
S-A |
MT-CYB |
normal |
Africain |
20050813022 |
14831 |
G-A |
A-T |
MT-CYB |
Normal |
Arabs |
20111213004 |
14880 |
T-G |
I-S |
MT-CYB |
normal |
Africain |
20111213003 |
14886 |
C-G |
T-Ter |
MT-CYB |
normal |
Africain |
20111213006 |
14949 |
A-C |
H-P |
MT-CYB |
normal |
Africain |
20111213007 |
14954 |
A-G |
T-A |
MT-CYB |
normal |
Africain |
20120124009 |
15211 |
C-T |
syn |
MT-CYB |
Normal |
Indonesian |
20050813012 |
15218 |
A-G |
T-A |
MT-CYB |
Normal |
Arabs |
20040317016 |
15235 |
A-G |
syn |
MT-CYB |
Normal |
Saudi Arab |
20050813023 |
15257 |
G-A |
D-N |
MT-CYB |
Normal |
Arabs |
20050813024 |
15267 |
C-A |
T-N |
MT-CYB |
Normal |
Arabs |
20050813025 |
15617 |
G-A |
V-I |
MT-CYB |
Normal |
Arabs |
20050919026 |
15904 |
C-T |
tRNA |
MT-TT |
Normal |
Arabs |
20050813013 |
15928 |
G-A |
tRNA |
MT-TT |
Normal |
Arabs |
20060605001 |
16017 |
T-C |
tRNA |
MT-TP |
Normal |
Indigenous group-Temuan |
20050809018 |
16069 |
C-T |
non-coding |
Control Region |
Normal |
Arabs |
20050809019 |
16092 |
T-C |
non-coding |
Control Region |
Normal |
Arabs |
20050809020 |
16093 |
T-C |
non-coding |
Control Region |
Normal |
Arabs |
20040701009 |
16098 |
A-G |
non-coding |
Control Region |
Normal |
Mestizo |
20091005001 |
16111 |
C-G |
noncod |
D-Loop |
Normal |
Bugis Malays |
20091005007 |
16111 |
C-A |
noncod |
D-Loop |
Normal |
Kelantan Malays |
20050919027 |
16126 |
T-C |
non-coding |
Control Region |
Normal |
Arabs |
20040701011 |
16175 |
A-G |
non-coding |
Control Region |
Normal |
Mestizo |
20091005006 |
16176 |
C-G |
noncod |
D-Loop |
Normal |
Riau Malays |
20040701010 |
16189 |
T-A |
non-coding |
Control Region |
Normal |
Mestizo |
20050106001 |
16190 |
C-A |
non-coding |
Control Region |
Normal |
Caucasian |
20091005004 |
16194 |
A-C |
noncod |
D-Loop |
Normal |
Minangkabau and Banjar Malays |
20091006001 |
16207 |
A-G |
noncod |
D-Loop |
Normal |
Malay |
20091005002 |
16246 |
A-T |
noncod |
D-Loop |
Normal |
Banjar Malays |
20081212001 |
16292 |
C-T |
noncod |
D-Loop |
normal |
Veddah |
20091005005 |
16301 |
C-T |
noncod |
D-Loop |
Normal |
Banjar Malays |
20050919028 |
16304 |
T-C |
non-coding |
Control Region |
Normal |
Arabs |
20091005003 |
16312 |
A-G |
noncod |
D-Loop |
Normal |
Kedah Malays |
20030428003 |
16318 |
A-C |
non-coding |
Control Region |
Normal |
Kazhakh |
20060605004 |
16327 |
C-A |
non-coding |
Control Region |
Normal |
Indigenous group-Bidayuh |
20050919029 |
16335 |
A-G |
non-coding |
Control Region |
Normal |
Arabs |
20050919030 |
16355 |
C-T |
non-coding |
Control Region |
Normal |
Arabs |
20050919031 |
16362 |
T-C |
non-coding |
Control Region |
Normal |
Arabs |
20101129003 |
1406 |
T-C |
rRNA |
MT-RNR1 |
Nonsyndromic Hearing Loss |
Turkish |
20101129001 |
1556 |
C-T |
rRNA |
MT-RNR1 |
Nonsyndromic Hearing Loss |
Turkish |
20101129004 |
3316 |
G-A |
A-T |
MT-ND1 |
Nonsyndromic Hearing Loss |
FARS |
20111230003 |
3213 |
A-G |
rRNA |
MT-RNR2 |
non-syndromic hearing loss |
|
20111230005 |
7792 |
C-T |
syn |
MT-CO2 |
non-syndromic hearing loss |
Caucasian |
20100212002 |
16079 |
C-T |
non-coding |
Control Region |
Non-syndromic hearing loss |
Caucasian |
20081105001 |
1453 |
A-G |
noncod |
MT-RNR1 |
Non-Syndromic Hearing Impairment (NSHI) |
Hindu |
20081106001 |
1462 |
G-A |
noncod |
MT-RNR1 |
Non-Syndromic Hearing Impairment (NSHI) |
Hindu |
20081106002 |
1508 |
C-T |
noncod |
MT-RNR1 |
Non-Syndromic Hearing Impairment (NSHI) |
Hindu |
20111230001 |
712 |
C-A |
rRNA |
MT-RNR1 |
non-syndromic hearing impairment |
Caucasian |
20111230006 |
7746 |
A-G |
N-S |
MT-CO2 |
non-syndromic hearing impairment |
Caucasian |
20110704001 |
3388 |
C-A |
L-M |
MT-ND1 |
non-syndromic deafness |
|
20110704002 |
4295 |
A-G |
tRNA |
MT-TI |
non-syndromic deafness |
|
20110704003 |
8078 |
G-A |
V-I |
MT-CO2 |
non-syndromic deafness |
|
20110704004 |
12236 |
G-A |
tRNA |
MT-TS2 |
non-syndromic deafness |
|
20110704005 |
15077 |
G-A |
E-K |
MT-CYB |
non-syndromic deafness |
|
20111230004 |
7471 |
C-T |
tRNA |
MT-TS1 |
non syndromic hearing loss |
caucasian |
20140407001 |
120 |
C-A |
non-coding |
Control Region |
NON CODING |
ASIAN |
20040210001 |
3531 |
G-A |
syn |
MT-ND1 |
NAION |
Arabs |
20040210002 |
3594 |
C-T |
syn |
MT-ND1 |
NAION |
Arabs |
20040210003 |
3768 |
A-G |
syn |
MT-ND1 |
NAION |
Arabs |
20040210004 |
3834 |
G-A |
syn |
MT-ND1 |
NAION |
Arabs |
20040210005 |
3847 |
T-C |
syn |
MT-ND1 |
NAION |
Arabs |
20040210006 |
3921 |
C-A |
syn |
MT-ND1 |
NAION |
Arabs |
20040210007 |
4092 |
G-A |
syn |
MT-ND1 |
NAION |
Arabs |
20040210008 |
4104 |
A-G |
syn |
MT-ND1 |
NAION |
Arabs |
20040210009 |
4257 |
A-G |
syn |
MT-ND1 |
NAION |
Arabs |
20040210010 |
6386 |
C-T |
syn |
MT-CO1 |
NAION |
Arabs |
20040210011 |
8386 |
C-T |
syn |
MT-ATP8 |
NAION |
Arabs |
20040210012 |
8559 |
C-T |
syn |
MT-ATP6 |
NAION |
Arabs |
20040210026 |
8559 |
C-T |
P-L |
MT-ATP8 |
NAION |
Arabs |
20040210013 |
8577 |
A-G |
syn |
MT-ATP6 |
NAION |
Arabs |
20040210014 |
8865 |
G-A |
syn |
MT-ATP6 |
NAION |
Arabs |
20040210022 |
11362 |
A-G |
syn |
MT-ND4 |
NAION |
Arabs |
20040210023 |
11422 |
C-T |
syn |
MT-ND4 |
NAION |
Arabs |
20040210024 |
11761 |
C-T |
syn |
MT-ND4 |
NAION |
Arabs |
20040210025 |
11935 |
T-C |
syn |
MT-ND4 |
NAION |
Arabs |
20040210015 |
12822 |
A-G |
syn |
MT-ND5 |
NAION |
Arabs |
20040210016 |
13188 |
C-T |
syn |
MT-ND5 |
NAION |
Arabs |
20040210017 |
14094 |
T-C |
syn |
MT-ND5 |
NAION |
Arabs |
20040210018 |
14662 |
A-G |
syn |
MT-ND6 |
NAION |
Arabs |
20040210019 |
14905 |
G-A |
syn |
MT-CYB |
NAION |
Arabs |
20040210020 |
15265 |
C-T |
syn |
MT-CYB |
NAION |
Arabs |
20040210021 |
15679 |
A-G |
syn |
MT-CYB |
NAION |
Arabs |
20010822001 |
12813 |
C-T |
syn |
MT-ND5 |
Myopathy, Tremor |
Caucasian |
20050309001 |
16239 |
C-A |
non-coding |
Control Region |
Myopathy, tremor |
Caucasian |
20021231002 |
13020 |
T-C |
syn |
MT-ND5 |
Myopathy, Diabetes, CPEO, Deafness |
Caucasian |
20020410002 |
15034 |
A-G |
syn |
MT-CYB |
Myopathy (unknown), Bilateral Ptosis |
Caucasian |
20020410003 |
15310 |
T-C |
syn |
MT-CYB |
Myopathy (unknown), Bilateral Ptosis |
Caucasian |
20011206002 |
15016 |
C-T |
syn |
MT-CYB |
Myopathy (unknown) |
Caucasian |
20100429001 |
3355 |
A-G |
M-V |
MT-ND1 |
myopathy |
Caucasian |
20040809001 |
3528 |
C-T |
syn |
MT-ND1 |
Myopathy |
Chinese-China |
20060130006 |
8538 |
T-C |
syn |
MT-ATP6 |
Myopathy |
Caucasian |
20060130007 |
8538 |
T-C |
I-T |
MT-ATP8 |
Myopathy |
Caucasian |
20050609001 |
8705 |
T-C |
M-T |
MT-ATP6 |
Myopathy |
Caucasian |
20051007007 |
8750 |
T-C |
L-S |
MT-ATP6 |
Myopathy |
Caucasian |
19990323003 |
9254 |
A-G |
syn |
MT-CO3 |
Myopathy |
Caucasian |
20030925001 |
9300 |
G-A |
A-T |
MT-CO3 |
Myopathy |
Caucasian |
20060518003 |
9338 |
A-G |
syn |
MT-CO3 |
Myopathy |
Caucasian |
19990323001 |
9380 |
G-A |
syn |
MT-CO3 |
Myopathy |
Caucasian |
20021231011 |
9410 |
A-G |
syn |
MT-CO3 |
Myopathy |
Caucasian |
20001016001 |
14872 |
C-T |
syn |
MT-CYB |
Myopathy |
Caucasian |
19990323004 |
15088 |
C-T |
syn |
MT-CYB |
Myopathy |
Caucasian |
19990721003 |
15772 |
A-G |
syn |
MT-CYB |
Myopathy |
Caucasian |
20050916001 |
8867 |
T-C |
I-T |
MT-ATP6 |
Myoclonic Epilepsy, bilateral ptosis |
Caucasian |
20060518001 |
8084 |
A-T |
T-A |
MT-CO2 |
Myoclonic Epilepsy |
Caucasian |
20050917001 |
8598 |
T-C |
syn |
MT-ATP6 |
Myoclonic Epilepsy |
Caucasian |
20030912001 |
3242 |
G-A |
tRNA |
MT-TL1 |
Myelodysplastic Syndrome (MDS) |
Caucasian |
20140214008 |
9769 |
T-C |
I-T (Ile188Thr) |
MT-CO3 |
myasthenia gravis |
Caucasian |
20140214009 |
10866 |
T-C |
I-T (Ile36Thr) |
MT-ND4 |
myasthenia gravis |
Caucasian |
20060227001 |
12207 |
G-A |
tRNA |
MT-TS2 |
Mixed MELAS/MERRF |
Chinese mother and Caucasian father |
20100729001 |
8682 |
A-G |
syn |
MT-ATP6 |
mitochondrial myopathy |
caucasienne |
20060122001 |
11260 |
T-A |
syn |
MT-ND4 |
Mitochondrial Myopathy |
Caucasian |
20110801016 |
9581 |
T-C |
syn |
MT-CO3 |
Mild Hearing loss |
Asian |
20021231004 |
8414 |
C-T |
L-F |
MT-ATP8 |
MERRF |
Caucasian |
20021231005 |
8431 |
C-T |
S-L |
MT-ATP8 |
MERRF |
Caucasian |
20060130005 |
1703 |
C-T |
rRNA |
MT-RNR2 |
Mental Retardation |
Caucasian |
20060130002 |
11674 |
C-T |
syn |
MT-ND4 |
Mental Retardation |
Caucasian |
20010927001 |
13239 |
C-T |
syn |
MT-ND5 |
Mental Retardation |
Italian |
20140214013 |
7453 |
G-A |
tRNA |
MT-TS1 |
Melas-like |
|
19990721002 |
9007 |
A-G |
T-A |
MT-ATP6 |
MELAS-like |
Caucasian |
19990324002 |
14470 |
T-C |
syn |
MT-ND6 |
MELAS(3243) |
Caucasian |
19990308001 |
8519 |
G-A |
E-K |
MT-ATP8 |
MELAS plus other symptoms |
- |
20101005001 |
1640 |
A-G |
tRNA |
MT-TV |
MELAS , mitochondrial diabetes, bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, |
Africain |
20021231003 |
3206 |
C-T |
noncod |
MT-RNR2 |
MELAS |
Caucasian |
20140214020 |
3243 |
A-G |
tRNA |
MT-TL1 |
Melas |
|
20020409001 |
3741 |
C-T |
syn |
MT-ND1 |
MELAS |
Caucasian |
20020410001 |
3741 |
C-T |
syn |
MT-ND1 |
MELAS |
Caucasian |
20080416001 |
12133 |
C-T |
syn |
MT-ND4 |
MELAS |
Caucasian |
20001017011 |
10115 |
T-C |
syn |
MT-ND3 |
Lung Cancer |
Caucasian |
20001017010 |
10667 |
T-C |
syn |
MT-ND4L |
Lung Cancer |
African/American |
20001017003 |
10688 |
G-A |
syn |
MT-ND4L |
Lung Cancer |
African/American |
20001017002 |
10810 |
T-C |
syn |
MT-ND4 |
Lung Cancer |
African/American |
20001017009 |
10816 |
A-G |
syn |
MT-ND4 |
Lung Cancer |
African/American |
20001017008 |
11152 |
T-C |
syn |
MT-ND4 |
Lung Cancer |
Arabs |
20001017006 |
11176 |
G-A |
syn |
MT-ND4 |
Lung Cancer |
African/American |
20001017004 |
11302 |
C-T |
syn |
MT-ND4 |
Lung Cancer |
African/American |
20001017007 |
11641 |
A-G |
syn |
MT-ND4 |
Lung Cancer |
African/American |
20001017005 |
12020 |
C-T |
syn |
MT-ND4 |
Lung Cancer |
African/American |
20001017001 |
16170 |
A-G |
noncod |
D-Loop |
Lung Cancer |
Caucasian |
20030916001 |
146 |
T-A |
non-coding |
Control Region |
Liver Cancer |
Asian |
20030916002 |
259 |
A-G |
non-coding |
Control Region |
Liver Cancer |
Asian |
20030916003 |
504 |
T-C |
non-coding |
Control Region |
Liver Cancer |
Asian |
20030918001 |
6338 |
A-G |
syn |
MT-CO1 |
Liver Cancer |
Asian |
20030918002 |
9254 |
A-G |
syn |
MT-CO3 |
Liver Cancer |
Asian |
20030918003 |
9530 |
T-C |
syn |
MT-CO3 |
Liver Cancer |
Asian |
20030918004 |
10153 |
A-C |
E-A |
MT-ND3 |
Liver Cancer |
Asian |
20030918005 |
11015 |
A-G |
S-G |
MT-ND4 |
Liver Cancer |
Asian |
20030918006 |
14388 |
A-G |
syn |
MT-ND6 |
Liver Cancer |
Asian |
20030918008 |
15323 |
G-A |
A-T |
MT-CYB |
Liver Cancer |
Asian |
20030918009 |
15859 |
A-G |
syn |
MT-CYB |
Liver Cancer |
Asian |
20050419001 |
480 |
T-C |
non-coding |
Control Region |
LHON |
Caucasian |
20110314001 |
3197 |
T-C |
rRNA |
MT-RNR2 |
LHON |
Caucasion |
19990218007 |
3552 |
T-A |
syn |
MT-ND1 |
LHON |
Hispanic |
20031029001 |
3645 |
T-C |
syn |
MT-ND1 |
LHON |
Arabs |
20120618005 |
3893 |
C-G |
T-S |
MT-ND1 |
LHON |
Iranian |
20120618004 |
4539 |
T-A |
S-T |
MT-ND2 |
LHON |
Iranian |
20120618015 |
4596 |
G-A |
V-I |
MT-ND2 |
LHON |
Iranian |
20120618006 |
4932 |
C-A |
L-I |
MT-ND2 |
LHON |
Iranian |
20120618002 |
4941 |
T-A |
S-T |
MT-ND2 |
LHON |
Iranian |
20031029002 |
9509 |
T-C |
syn |
MT-CO3 |
LHON |
Arabs |
19990218008 |
9545 |
A-G |
syn |
MT-CO3 |
LHON |
Hispanic |
20031029003 |
9794 |
A-G |
syn |
MT-CO3 |
LHON |
Arabs |
20110224001 |
10158 |
T-G |
S-A |
MT-ND3 |
LHON |
South Indian |
20120618003 |
10399 |
C-T |
A-T |
MT-ND3 |
LHON |
Iranian |
20120618007 |
10557 |
C-A |
L-I |
MT-ND4L |
LHON |
Iranian |
20081022001 |
10680 |
G-A |
A-T |
MT-ND4L |
LHON |
Han Chinese |
20051225001 |
11260 |
T-A |
syn |
MT-ND4 |
LHON |
Caucasian |
20120618008 |
12012 |
C-A |
S-STOP |
MT-ND4 |
LHON |
Iranian |
20120618001 |
12851 |
T-A |
V-I |
MT-ND5 |
LHON |
Iranian |
20120618016 |
13255 |
|
|
|
LHON |
Iranian |
20120618017 |
13255 |
T-A |
S-T |
MT-ND5 |
LHON |
Iranian |
20041212001 |
13539 |
A-G |
syn |
MT-ND5 |
LHON |
Arabs |
20120618014 |
13663 |
A-G |
I-V |
MT-ND5 |
LHON |
Iranian |
20120618009 |
13934 |
C-T |
T-I |
MT-ND5 |
LHON |
Iranian |
20120618010 |
14020 |
A-G |
SYN |
MT-ND5 |
LHON |
Iranian |
20040726001 |
14207 |
G-A |
T-I |
MT-ND6 |
LHON |
Caucasian |
20040803003 |
14249 |
G-A |
A-V |
MT-ND6 |
LHON |
- |
20110314002 |
14258 |
G-A |
P-L |
MT-ND6 |
LHON |
Caucasion |
20040803002 |
14284 |
C-T |
syn |
MT-ND6 |
LHON |
- |
20120618012 |
14353 |
T-C |
SYN |
MT-ND6 |
LHON |
Iranian |
20040803001 |
14634 |
T-C |
M-V |
MT-ND6 |
LHON |
- |
19990324001 |
15721 |
T-C |
syn |
MT-CYB |
LHON |
Caucasian |
20050419002 |
16174 |
C-A |
non-coding |
Control Region |
LHON |
Caucasian |
20050419003 |
16176 |
C-A |
non-coding |
Control Region |
LHON |
Caucasian |
20050419004 |
16219 |
A-T |
non-coding |
Control Region |
LHON |
Caucasian |
20050419005 |
16242 |
C-A |
non-coding |
Control Region |
LHON |
Caucasian |
20021231013 |
3360 |
A-G |
syn |
MT-ND1 |
Leucodystrophy |
Caucasian |
20060130001 |
14552 |
A-G |
V-A |
MT-ND6 |
Leucodystrophy |
Caucasian |
20070609001 |
16041 |
A-G |
non-coding |
Control Region |
Leucodystrophy |
Africain |
20080120004 |
8682 |
A-G |
syn |
MT-ATP6 |
Leigh-like syndrome |
Caucasian/Africain |
20021231001 |
512 |
A-G |
noncod |
D-Loop |
Leigh Syndrome |
Caucasian |
20100519001 |
3861 |
A-G |
syn |
MT-ND1 |
Leigh Syndrome |
Caucasian/Africain |
20070724001 |
4842 |
A-G |
T-A |
MT-ND2 |
Leigh Syndrome |
Caucasian/Africain |
20070724003 |
4859 |
T-C |
syn |
MT-ND2 |
Leigh Syndrome |
Caucasian/Africain |
20070724004 |
5453 |
A-G |
syn |
MT-ND2 |
Leigh Syndrome |
Caucasian/Africain |
20070724005 |
5523 |
T-G |
non-coding |
MT-TW |
Leigh Syndrome |
Caucasian/Africain |
20070724006 |
5556 |
G-A |
non-coding |
MT-TW |
Leigh Syndrome |
Caucasian/Africain |
20070724007 |
5559 |
A-G |
non-coding |
MT-TW |
Leigh Syndrome |
Caucasian/Africain |
20070724008 |
5618 |
T-G |
tRNA |
MT-TA |
Leigh Syndrome |
Caucasian/Africain |
20070724009 |
5855 |
A-G |
non-coding |
MT-TY |
Leigh Syndrome |
Caucasian/Africain |
20000402001 |
7058 |
T-C |
syn |
MT-CO1 |
Leigh Syndrome |
Caucasian |
20070724010 |
8227 |
T-C |
syn |
MT-CO2 |
Leigh Syndrome |
Caucasian/Africain |
20080110006 |
8227 |
T-C |
syn |
MT-CO2 |
Leigh syndrome |
Caucasian |
20070724011 |
8248 |
A-G |
syn |
MT-CO2 |
Leigh Syndrome |
Caucasian/Africain |
20070724012 |
8380 |
T-C |
syn |
MT-ATP8 |
Leigh Syndrome |
Caucasian/Africain |
20070724013 |
8411 |
A-G |
M-V |
MT-ATP8 |
Leigh Syndrome |
Caucasian/Africain |
20070327004 |
8816 |
A-G |
Q-R |
MT-ATP6 |
Leigh Syndrome |
Arabs |
20070327005 |
9012 |
T-G |
syn |
MT-ATP6 |
Leigh Syndrome |
Arabs |
20070327006 |
9111 |
T-C |
syn |
MT-ATP6 |
Leigh Syndrome |
Arabs |
20120110002 |
9404 |
|
|
|
Leigh Syndrome |
Caucasian/Africain |
20070327008 |
10265 |
T-C |
syn |
MT-ND3 |
Leigh Syndrome |
Arabs |
20070327009 |
11875 |
T-C |
syn |
MT-ND4 |
Leigh Syndrome |
Arabs |
20070327010 |
12609 |
T-C |
syn |
MT-ND5 |
Leigh Syndrome |
Arabs |
20061011001 |
12622 |
G-A |
V-I |
MT-ND5 |
Leigh Syndrome |
Caucasian |
20070327011 |
12714 |
T-C |
syn |
MT-ND5 |
Leigh Syndrome |
Arabs |
20080811002 |
13474 |
T-C |
syn |
MT-ND5 |
Leigh Syndrome |
Caucasian, Jew |
20061011002 |
13511 |
A-T |
K-M |
MT-ND5 |
Leigh Syndrome |
Caucasian |
20140214017 |
13513 |
G-A |
D-N (Asp393Asn) |
MT-ND5 |
Leigh syndrome |
|
20070327012 |
14179 |
A-G |
syn |
MT-ND6 |
Leigh Syndrome |
Arabs |
20070609002 |
16287 |
C-A |
non-coding |
Control Region |
Leigh Syndrome |
Africain |
20070609003 |
16293 |
A-T |
non-coding |
Control Region |
Leigh Syndrome |
Africain |
20080120001 |
9335 |
C-T |
syn |
MT-CO3 |
KSS |
Caucasian/Africain |
20080120002 |
11362 |
A-G |
syn |
MT-ND4 |
KSS |
Caucasian/Africain |
20140218001 |
5800 |
A-G |
tRNA |
MT-TC |
Kallmann Syndrome |
Han Chinese |
20140214005 |
189 |
A-G |
non-coding |
Control Region |
isolated complex IV deficiency |
Caucasian |
20140214011 |
189 |
A-G |
non-coding |
Control Region |
isolated complex IV deficiency |
Caucasian |
20140127001 |
14721 |
G-A |
tRNA |
MT-TE |
isolated complex IV deficiency |
Causacian |
20140214006 |
16428 |
G-A |
non-coding |
Control Region |
isolated complex IV deficiency |
Caucasian |
20140127002 |
15453 |
T-C |
L-P |
MT-CYB |
isolated complex III deficiency |
Causacian |
20090529003 |
6146 |
A-G |
syn |
MT-CO1 |
Infertility |
Africain/caucasian |
20110504004 |
6188 |
C-A |
syn |
MT-CO1 |
INFERTILITY |
Africain |
20090529002 |
6216 |
T-C |
L1-L2 |
MT-CO1 |
Infertility |
Africain/caucasian |
20100930001 |
6221 |
T-A |
syn |
MT-CO1 |
infertility |
African |
20101004003 |
6614 |
T-C |
syn |
MT-CO1 |
INFERTILITY |
Africain |
20101004004 |
6806 |
A-G |
syn |
MT-CO1 |
INFERTILITY |
Africain |
20110504001 |
7572 |
T-C |
tRNA |
MT-TD |
INFERTILITY |
Africain |
20110504002 |
8312 |
A-G |
tRNA |
MT-TK |
INFERTILITY |
Africain |
20110504003 |
8413 |
A-G |
syn |
MT-ATP8 |
INFERTILITY |
Africain |
20090710001 |
8820 |
A-G |
syn |
MT-ATP6 |
Infertility |
Caucasian |
20090529005 |
9007 |
A-T |
T-S |
MT-ATP6 |
Infertility |
Africain/caucasian |
20090529001 |
15220 |
A-T |
no |
MT-CYB |
Infertility |
Africain/caucasian |
20090529004 |
15283 |
T-C |
syn |
MT-CYB |
Infertility |
Africain/caucasian |
20101004002 |
6164 |
C-T |
syn |
MT-CO1 |
INFERTILE |
Africain |
20140520003 |
6164 |
C-T |
Syn |
MT-CO1 |
infertile |
|
20140520001 |
6221 |
T-A |
Syn |
MT-CO1 |
infertile |
|
20140520002 |
6296 |
C-A |
Syn |
MT-CO1 |
infertile |
|
20140520004 |
6614 |
T-C |
Syn |
MT-CO1 |
infertile |
|
20040217004 |
15519 |
T-C |
L-P |
MT-CYB |
Infarct Cerebri Multiplex, more |
Caucasian |
20080414003 |
4017 |
C-T |
syn |
MT-ND1 |
Hypertrophic Cardiomyopathy |
Caucasian |
20080414004 |
9425 |
A-G |
syn |
MT-CO3 |
Hypertrophic Cardiomyopathy |
Caucasian |
20061030002 |
4232 |
T-C |
I-T |
MT-ND1 |
Huntington Disease-Like 2 |
south African Mixed Ancestry |
20061030003 |
4505 |
C-T |
syn |
MT-ND2 |
Huntington Disease-Like 2 |
south African Mixed Ancestry |
20120312001 |
6498 |
|
|
|
Hearing loss and optic atrophy |
Caucasian/Africain |
20141116001 |
12350 |
C-A |
T 5 N |
MT-ND5 |
hearing loss + psychomotor delay |
Causasian / Africain |
19990218005 |
216 |
T-C |
noncod |
D-Loop |
Hearing Loss |
Caucasian |
19990218006 |
340 |
C-T |
noncod |
D-Loop |
Hearing Loss |
Caucasian |
20161022001 |
1147 |
G-A |
noncod |
RNR1 |
hearing loss |
Iranian |
20091029001 |
1453 |
A-G |
noncod |
MT-RNR1 |
Hearing loss |
Caucasian |
19990303003 |
6045 |
C-T |
syn |
MT-CO1 |
Hearing Loss |
Caucasian |
20110801002 |
5082 |
T-C |
syn |
MT-ND2 |
Hearing Impairment and Diabetes |
ASIAN |
20110801007 |
5743 |
C-G |
non-coding |
MT-OLR |
Hearing Impairment |
ASIAN |
20110801001 |
12474 |
C-T |
syn |
MT-ND5 |
HEARING IMPAIRED and NORMAL |
ASIAN |
20110722001 |
7455 |
A-G |
tRNA |
MT-TS1 |
HEARING IMPAIRED |
ASIAN |
20140630016 |
72 |
T-A |
non-coding |
Control Region |
Glioma |
|
20140630017 |
16148 |
C-T |
non-coding |
Control Region |
Glioma |
|
20140630013 |
16234 |
C-T |
non-coding |
Control Region |
Glioma |
|
20041130001 |
16176 |
C- A |
non-coding |
Control Region |
Friedreich's Ataxia |
- |
20080810001 |
16525 |
A-G |
noncod |
D-Loop |
FAP |
Chinese |
20020529001 |
15487 |
A-T |
syn |
MT-CYB |
Exercise Intolerance |
- |
20040713010 |
251 |
G-A |
non-coding |
Control Region |
Esophageal Cancer |
Asian |
20040713011 |
481 |
C-T |
non-coding |
Control Region |
Esophageal Cancer |
Asian |
20040713008 |
7711 |
T-C |
syn |
MT-CO2 |
Esophageal Cancer |
Asian |
20040713009 |
7910 |
G-C |
E-Q |
MT-CO2 |
Esophageal Cancer |
Asian |
20040713012 |
7912 |
G-C |
E-D |
MT-CO2 |
Esophageal Cancer |
Asian |
20040713013 |
9182 |
G-A |
S-N |
MT-ATP6 |
Esophageal Cancer |
Asian |
20040713014 |
10282 |
T-A |
L-Q |
MT-ND3 |
Esophageal Cancer |
Asian |
20040713015 |
11976 |
A-C |
Y-S |
MT-ND4 |
Esophageal Cancer |
Asian |
20040713016 |
12957 |
T-C |
syn |
MT-ND5 |
Esophageal Cancer |
Asian |
20060518007 |
7864 |
C-T |
syn |
MT-CO2 |
Epilepsy |
- |
20090609002 |
8862 |
A-G |
syn |
MT-ATP6 |
Epilepsy |
Iranian |
20060125001 |
15713 |
T-G |
S-A |
MT-CYB |
Epilepsy |
Russian |
20040217002 |
9632 |
A-G |
syn |
MT-CO3 |
Encephalopathy, LHON |
Caucasian |
19990308003 |
3197 |
T-C |
noncod |
MT-RNR2 |
Encephalopathy Cardiomyopathy |
Mennonite |
20060130003 |
7774 |
C-T |
syn |
MT-CO2 |
Encephalopathy |
Caucasian |
20060130004 |
8573 |
G-A |
G-D |
MT-ATP6 |
Encephalopathy |
Caucasian |
20051007001 |
12621 |
C-A |
F-L |
MT-ND5 |
Encephalopathy |
Caucasian |
20030723002 |
8527 |
A-G |
M-V |
MT-ATP6 |
Encephalomyopathy plus other symptoms |
Caucasian |
20030723003 |
8527 |
A-G |
syn |
MT-ATP8 |
Encephalomyopathy plus other symptoms |
Caucasian |
20030723001 |
8932 |
C-T |
P-S |
MT-ATP6 |
Encephalomyopathy plus other symptoms |
Caucasian |
20051031001 |
3579 |
A-G |
syn |
MT-ND1 |
Encephalomyopathy |
Caucasian |
20051007002 |
5315 |
A-G |
syn |
MT-ND2 |
Encephalomyopathy |
Caucasian |
20050928001 |
7861 |
T-C |
syn |
MT-CO2 |
Encephalomyopathy |
Caucasian |
20051007003 |
8901 |
A-G |
syn |
MT-ATP6 |
Encephalomyopathy |
Caucasian |
20050803001 |
12557 |
C-T |
T-I |
MT-ND5 |
Encephalomyopathy |
Caucasian |
20040217003 |
15763 |
A-G |
syn |
MT-CYB |
Encephalomyopathy |
Caucasian |
20060803001 |
8463 |
A-G |
Y-C |
MT-ATP8 |
Down's syndrome |
Belarusian |
20120404001 |
8399 |
A-G |
T-A |
MT-ATP8 |
disregulation of the metabolism of fatty acids |
Caucasian |
19990308004 |
8584 |
G-A |
A-T |
MT-ATP6 |
DIDMOAD |
Asian |
20100125002 |
16230 |
A-T |
non-coding |
Control Region |
diabetes;bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy |
Tunisian |
20100204001 |
16328 |
C-G |
non-coding |
Control Region |
diabetes;bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy |
Tunisian |
19990308002 |
1462 |
G-A |
noncod |
MT-RNR1 |
Diabetes/Deafness |
- |
20111212001 |
14705 |
G-C |
tRNA |
MT-TE |
Diabetes, Myopathy,Hearing impairment |
|
20111214001 |
14835 |
G-C |
W-S |
MT-CYB |
Diabetes, Myopathy, hearing impairment |
Africain |
20111213001 |
14836 |
A-G |
syn |
MT-CYB |
Diabetes, Myopathy, hearing impairment |
Africain |
20120125001 |
14935 |
no AA change |
|
|
diabetes myopathy and hearing impairement |
africain |
20120125002 |
14936 |
|
S-A |
|
diabetes myopathy and hearing impairement |
africain |
20141101003 |
14458 |
C-G |
syn |
MT-ND6 |
Diabetes ,Myopathy |
|
20090604001 |
581 |
A-C |
noncod |
MT-TF |
DIABETES |
Africain/caucasian |
20100125001 |
4611 |
A-G |
M-V |
MT-ND2 |
diabetes |
Tunisian |
20090604002 |
6527 |
A-T |
M-I |
MT-CO1 |
DIABETES |
Africain/caucasian |
20131120001 |
8241 |
T-G |
F-C |
MT-CO2 |
DIABETES |
Caucasian/Africain |
20050308004 |
735 |
A-G |
rRNA |
MT-RNR1 |
Deafness |
Africain |
20050308005 |
794 |
T-A |
rRNA |
MT-RNR1 |
Deafness |
Africain |
20050313001 |
813 |
A-G |
rRNA |
MT-RNR1 |
Deafness |
Africain |
20060913001 |
961 |
T-A |
rRNA |
MT-RNR1 |
Deafness |
Russian |
20070709002 |
1557 |
A-C |
rRNA |
MT-RNR1 |
Deafness |
Russian |
20080117001 |
4313 |
T-C |
noncod |
MT-TI |
Deafness |
Caucasian/Africain |
20080117002 |
7372 |
T-C |
M-T |
MT-CO1 |
Deafness |
Caucasian/Africain |
20080117003 |
8649 |
A-G |
syn |
MT-ATP6 |
Deafness |
Caucasian/Africain |
20080117004 |
9329 |
G-A |
syn |
MT-CO3 |
Deafness |
Caucasian/Africain |
20080117005 |
9467 |
T-C |
syn |
MT-CO3 |
Deafness |
Caucasian/Africain |
20080117006 |
9495 |
T-C |
F-L |
MT-CO3 |
Deafness |
Caucasian/Africain |
20080117007 |
9617 |
A-G |
syn |
MT-CO3 |
Deafness |
Caucasian/Africain |
20070327007 |
10098 |
G-A |
A-T |
MT-ND3 |
Deafness |
Arabs |
20080117008 |
10308 |
C-T |
syn |
MT-ND3 |
Deafness |
Caucasian/Africain |
20080117010 |
11743 |
C-T |
syn |
MT-ND4 |
Deafness |
Caucasian/Africain |
20080117009 |
11926 |
A-G |
syn |
MT-ND4 |
Deafness |
Caucasian/Africain |
20140214021 |
3242 |
G-A |
tRNA |
MT-TL1 |
CPEO |
Caucasian |
20140214022 |
3244 |
G-A |
tRNA |
MT-TL1 |
CPEO |
Caucasian |
20090129001 |
6060 |
A-G |
I-V |
MT-CO1 |
COPD |
Caucasian |
20090129002 |
6140 |
C-G |
syn |
MT-CO1 |
COPD |
Caucasian |
20090129003 |
6179 |
G-A |
syn |
MT-CO1 |
COPD |
Caucasian |
20090129004 |
6299 |
A-G |
syn |
MT-CO1 |
COPD |
Caucasian |
20090129005 |
6383 |
G-A |
syn |
MT-CO1 |
COPD |
Caucasian |
20090129006 |
6410 |
C-T |
syn |
MT-CO1 |
COPD |
Caucasian |
20090129007 |
8137 |
C-T |
syn |
MT-CO2 |
COPD |
Caucasian |
20090129008 |
9242 |
A-G |
syn |
MT-CO3 |
COPD |
Caucasian |
20090129009 |
9590 |
A-G |
syn |
MT-CO3 |
COPD |
Caucasian |
20090129010 |
9806 |
C-T |
syn |
MT-CO3 |
COPD |
Caucasian |
20090129011 |
9869 |
C-G |
syn |
MT-CO3 |
COPD |
Caucasian |
20090129013 |
9933 |
C-A |
H-N |
MT-CO3 |
COPD |
Caucasian |
20090129014 |
9987 |
T-A |
S-T |
MT-CO3 |
COPD |
Caucasian |
20121022003 |
2170 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20121022004 |
2412 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20121022001 |
6996 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20121022002 |
15246 |
|
|
|
control/normal/healthy |
Caucasian/Middle European |
20140214003 |
93 |
A-G |
non-coding |
Control Region |
Control |
Caucasian |
20070709001 |
1027 |
A-G |
rRNA |
MT-RNR1 |
Control |
Altaian |
20061030001 |
4206 |
A-G |
syn |
MT-ND1 |
Control |
south African Mixed Ancestry |
20140214002 |
7989 |
T-C |
L-P (Leu135Pro) |
MT-CO2 |
control |
Caucasian |
19991118002 |
8860 |
A-G |
T-A |
MT-ATP6 |
Control |
Unknown |
19991118003 |
8860 |
A-G |
T-A |
MT-ATP6 |
Control |
Unknown |
19991118004 |
9150 |
G-A |
syn |
MT-ATP6 |
Control |
Unknown |
19991118013 |
9150 |
A-G |
syn |
MT-ATP6 |
Control |
Unknown |
19991118006 |
9477 |
G-A |
V-I |
MT-CO3 |
Control |
unknown |
19991118011 |
9899 |
T-C |
syn |
MT-CO3 |
Control |
Unknown |
20140214001 |
12071 |
T-C |
Phe438Pro |
MT-ND4 |
control |
Caucasian |
20110503001 |
720 |
T-C |
rRNA |
MT-RNR1 |
Congenital Non-syndromic Deafness |
|
20110503002 |
960 |
C-A |
rRNA |
MT-RNR1 |
Congenital Non-syndromic Deafness |
|
20110503003 |
1462 |
G-T |
rRNA |
MT-RNR1 |
Congenital Non-syndromic Deafness |
|
20110503004 |
1978 |
A-C |
rRNA |
MT-RNR2 |
Congenital Non-syndromic Deafness |
|
20110503005 |
3387 |
T-C |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503006 |
3438 |
G-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503007 |
3444 |
A-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503008 |
3456 |
T-G |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503009 |
3486 |
C-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503010 |
3652 |
A-G |
I-V |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503011 |
3783 |
C-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503012 |
3894 |
C-T |
syn |
MT-ND1 |
Congenital Non-syndromic Deafness |
|
20110503013 |
5117 |
C-T |
syn |
MT-ND2 |
Congenital Non-syndromic Deafness |
|
20110503014 |
5225 |
A-G |
syn |
MT-ND2 |
Congenital Non-syndromic Deafness |
|
20110503015 |
6140 |
C-A |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20110503016 |
6188 |
C-T |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20110503017 |
7280 |
C-T |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20110503018 |
7379 |
G-A |
syn |
MT-CO1 |
Congenital Non-syndromic Deafness |
|
20110503019 |
7763 |
G-A |
E-K |
MT-CO2 |
Congenital Non-syndromic Deafness |
|
20110503020 |
8115 |
G-A |
G-E |
MT-CO2 |
Congenital Non-syndromic Deafness |
|
20110503021 |
8985 |
A-G |
syn |
MT-ATP6 |
Congenital Non-syndromic Deafness |
|
20110503022 |
9061 |
C-T |
syn |
MT-ATP6 |
Congenital Non-syndromic Deafness |
|
20110503023 |
10348 |
T-C |
I-T |
MT-ND3 |
Congenital Non-syndromic Deafness |
|
20110503024 |
10751 |
C-A |
N-K |
MT-ND4L |
Congenital Non-syndromic Deafness |
|
20110503025 |
11698 |
C-T |
syn |
MT-ND4 |
Congenital Non-syndromic Deafness |
|
20110503026 |
12057 |
A-G |
E-G |
MT-ND4 |
Congenital Non-syndromic Deafness |
|
20110503027 |
12721 |
C-T |
syn |
MT-ND5 |
Congenital Non-syndromic Deafness |
|
20110503028 |
14752 |
C-T |
syn |
MT-CYB |
Congenital Non-syndromic Deafness |
|
20110503029 |
14820 |
C-T |
S-F |
MT-CYB |
Congenital Non-syndromic Deafness |
|
20110503030 |
15542 |
C-T |
P-S |
MT-CYB |
Congenital Non-syndromic Deafness |
|
20110503031 |
16206 |
A-G |
non-coding |
Control Region |
Congenital Non-syndromic Deafness |
|
20110503032 |
16565 |
C-T |
non-coding |
Control Region |
Congenital Non-syndromic Deafness |
|
20110302001 |
571 |
C-A |
non-coding |
Control Region |
complex I deficiency |
|
20110302021 |
1607 |
T-C |
tRNA |
MT-TV |
complex I deficiency |
|
20110302022 |
1767 |
G-A |
rRNA |
MT-RNR2 |
complex I deficiency |
|
20110302007 |
1943 |
A-G |
rRNA |
MT-RNR2 |
complex I deficiency |
|
20110302009 |
2358 |
A-G |
rRNA |
MT-RNR2 |
complex I deficiency |
|
20110302010 |
2755 |
A-G |
rRNA |
MT-RNR2 |
complex I deficiency |
|
20110302013 |
5839 |
C-T |
non-coding |
MT-TY |
complex I deficiency |
|
20110302023 |
7570 |
A-G |
tRNA |
MT-TD |
complex I deficiency |
|
20110302004 |
739 |
C-T |
rRNA |
MT-RNR1 |
combined complex I+IV defiency |
|
20110302002 |
634 |
T-C |
tRNA |
MT-TF |
combined complex I+IV deficiency, epilepsia, muscle hypotonia, mental retardation |
|
20110302005 |
1009 |
C-T |
rRNA |
MT-RNR1 |
combined complex I + IV defiency |
|
20110302018 |
1886 |
G-A |
rRNA |
MT-RNR2 |
combined complex I + IV deficiency, Mitochondrial Myopathy |
|
20110302017 |
12256 |
G-A |
tRNA |
MT-TS2 |
combined complex I + IV deficiency, Mitochondrial Myopathy |
|
20110302003 |
719 |
G-A |
rRNA |
MT-RNR1 |
combined complex I + IV deficiency |
|
20110302015 |
1011 |
C-A |
rRNA |
MT-RNR1 |
combined complex I + IV deficiency |
|
20110302016 |
1386 |
T-C |
rRNA |
MT-RNR1 |
combined complex I + IV deficiency |
|
20110302006 |
1692 |
A-T |
rRNA |
MT-RNR2 |
combined complex I + IV deficiency |
|
20110302019 |
2239 |
A-G |
rRNA |
MT-RNR2 |
combined complex I + IV deficiency |
|
20110302008 |
2294 |
A-G |
rRNA |
MT-RNR2 |
combined complex I + IV deficiency |
|
20110302011 |
5743 |
C-del |
non-coding |
MT-OLR |
combined complex I + IV deficiency |
|
20110302012 |
5747 |
A-G |
non-coding |
MT-OLR |
combined complex I + IV deficiency |
|
20070207001 |
1843 |
T-C |
rRNA |
MT-RNR2 |
Centenarian |
Caucasian |
20070207002 |
1940 |
A-G |
rRNA |
MT-RNR2 |
Centenarian |
Caucasian |
20070207003 |
2623 |
A-G |
rRNA |
MT-RNR2 |
Centenarian |
Caucasian |
20100920002 |
3395 |
A-G |
Y-C |
MT-ND1 |
Cardiomyopathy and hearing-loss |
Caucasian/Africain |
20100921001 |
4316 |
A-G |
tRNA |
MT-TI |
Cardiomyopathy and hearing-loss |
Caucasian/Africain |
20120110001 |
3321 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20101209002 |
4032 |
C-T |
syn |
MT-ND1 |
Cardiomyopathy |
|
20080414002 |
4080 |
T-C |
syn |
MT-ND1 |
Cardiomyopathy |
Caucasian/Africain |
20081202001 |
4395 |
A-G |
noncod |
MT-TQ |
cardiomyopathy |
Afrique |
20120110004 |
7498 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20120110003 |
7502 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20120110006 |
8047 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20120110005 |
9605 |
|
|
|
Cardiomyopathy |
Caucasian/Africain |
20140318001 |
10394 |
C-A |
D-E |
MT-ND3 |
Cardiomyopathy |
caucasian |
20080406002 |
14757 |
T-C |
M-T |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080406001 |
14935 |
T-C |
syn |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080414001 |
15064 |
A-G |
syn |
MT-CYB |
Cardiomyopathy |
Caucasian |
20080406004 |
15220 |
A-G |
syn |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080406005 |
15344 |
T-C |
syn |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080406003 |
15434 |
C-A |
L-I |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080406006 |
15632 |
C-T |
syn |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080406007 |
15679 |
A-G |
syn |
MT-CYB |
Cardiomyopathy |
Tunisian |
20080406008 |
15799 |
A-G |
syn |
MT-CYB |
Cardiomyopathy |
Tunisian |
20140729001 |
50 |
T-C |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20140729002 |
120 |
C-A |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20140724002 |
170 |
C-A |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20140729003 |
369 |
C-T |
non-coding |
Control Region |
CAD+T2DM |
Asian Indian |
20140729004 |
1597 |
C-A |
rRNA |
MT-RNR1 |
CAD+T2DM |
Asian Indian |
20140729007 |
2435 |
G-T |
rRNA |
MT-RNR2 |
CAD+T2DM |
Asian Indian |
20140729009 |
3444 |
A-T |
syn |
MT-ND1 |
CAD+T2DM |
Asian Indian |
20140729010 |
3900 |
C-G |
F-L |
MT-ND1 |
CAD+T2DM |
Asian Indian |
20140729011 |
3959 |
G-A |
G-D |
MT-ND1 |
CAD+T2DM |
Asian Indian |
20140729012 |
4573 |
T-A |
M-K |
MT-ND2 |
CAD+T2DM |
Asian Indian |
20140730001 |
4771 |
C-G |
A-G |
MT-ND2 |
CAD+T2DM |
Asian Indian |
20140730003 |
6576 |
G-A |
G-Term |
MT-CO1 |
CAD+T2DM |
Asian Indian |
20140730004 |
6677 |
A-G |
syn |
MT-CO1 |
CAD+T2DM |
Asian Indian |
20140730005 |
10236 |
A-G |
I-V |
MT-ND3 |
CAD+T2DM |
Asian Indian |
20140730006 |
10331 |
C-T |
syn |
MT-ND3 |
CAD+T2DM |
Asian Indian |
20140730007 |
10668 |
G-A |
A-T |
MT-ND4L |
CAD+T2DM |
Asian Indian |
20140730008 |
10888 |
C-A |
N-K |
MT-ND4 |
CAD+T2DM |
Asian Indian |
20140730009 |
11081 |
A-G |
M-V |
MT-ND4 |
CAD+T2DM |
Asian Indian |
20140730010 |
11336 |
A-C |
N-H |
MT-ND4 |
CAD+T2DM |
Asian Indian |
20140730012 |
11528 |
A-C |
M-L |
MT-ND4 |
CAD+T2DM |
Asian Indian |
20140731004 |
12437 |
A-C |
H-P |
MT-ND5 |
CAD+T2DM |
Asian Indian |
20140731005 |
12578 |
A-C |
K-T |
MT-ND5 |
CAD+T2DM |
Asian Indian |
20140731006 |
12581 |
T-C |
L-P |
MT-ND5 |
CAD+T2DM |
Asian Indian |
20140731007 |
12611 |
T-C |
V-A |
MT-ND5 |
CAD+T2DM |
Asian Indian |
20140731009 |
15054 |
A-G |
Y-C |
MT-CYB |
CAD+T2DM |
Asian Indian |
20140731010 |
15480 |
T-G |
F-C |
MT-CYB |
CAD+T2DM |
Asian Indian |
20140731011 |
15585 |
T-G |
I-S |
MT-CYB |
CAD+T2DM |
Asian Indian |
20140731012 |
15609 |
T-G |
L-R |
MT-CYB |
CAD+T2DM |
Asian Indian |
20140731013 |
15785 |
T-A |
F-I |
MT-CYB |
CAD+T2DM |
Asian Indian |
20140731015 |
15869 |
A-T |
K-Term |
MT-CYB |
CAD+T2DM |
Asian Indian |
20121022005 |
1760 |
|
|
|
CAD patient |
Caucasian/Middle European |
20140731001 |
4927 |
T-C |
L-P |
MT-ND2 |
CAD |
Asian Indian |
20140731002 |
5015 |
C-T |
syn |
MT-ND2 |
CAD |
Asian Indian |
20140731003 |
10592 |
C-T |
syn |
MT-ND4L |
CAD |
Asian Indian |
20020507001 |
16147 |
C-A |
noncod |
D-Loop |
Breast Tumor |
- |
20140513001 |
146 |
T-C |
non-coding |
Control Region |
Breast cancer |
Senegalese |
20010303003 |
147 |
C-T |
noncod |
D-Loop |
Breast Cancer |
Caucasian |
20070527004 |
220 |
T-A |
non-coding |
Control Region |
Breast Cancer |
Caucasian |
20040720001 |
251 |
G-A |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720002 |
260 |
G-A |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720003 |
481 |
C-T |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720004 |
530 |
C-T |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720005 |
556 |
A-T |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720006 |
570 |
C-A |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720007 |
574 |
A-C |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720008 |
576 |
A-C |
non-coding |
Control Region |
Breast Cancer |
Asian |
20040720009 |
593 |
T-C |
tRNA |
MT-TF |
Breast Cancer |
Asian |
20010301006 |
1703 |
C-T |
noncod |
MT-RNR2 |
Breast Cancer |
Caucasian |
20091229001 |
3710 |
C-T |
A-V |
MT-ND1 |
Breast Cancer |
Caucasian |
20091229002 |
3756 |
A-G |
syn |
MT-ND1 |
Breast Cancer |
Africain |
20091229003 |
3803 |
T-C |
I-T |
MT-ND1 |
Breast Cancer |
Caucasian |
20091229004 |
3846 |
C-T |
syn |
MT-ND1 |
Breast Cancer |
Amerindian |
20010301007 |
3921 |
C-A |
syn |
MT-ND1 |
Breast Cancer |
Caucasian |
20010303006 |
4021 |
A-G |
T-A |
MT-ND1 |
Breast Cancer |
Caucasian |
20070527005 |
4246 |
A-G |
I-V |
MT-ND1 |
Breast Cancer |
Caucasian |
20091229005 |
4512 |
G-A |
A-T |
MT-ND2 |
Breast Cancer |
Caucasian |
20040720010 |
4562 |
A-G |
syn |
MT-ND2 |
Breast Cancer |
Asian |
20091229006 |
4598 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
African, Amerindian |
20091229007 |
4755 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20040720014 |
4973 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Caucasian |
20091229008 |
5069 |
A-T |
M-I |
MT-ND2 |
Breast Cancer |
Africain |
20091229009 |
5087 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229010 |
5096 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229011 |
5134 |
A-G |
N-S |
MT-ND2 |
Breast Cancer |
Caucasian |
20091229012 |
5141 |
C-T |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229013 |
5144 |
C-T |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20040720015 |
5285 |
A-G |
syn |
MT-ND2 |
Breast Cancer |
Caucasian |
20091229014 |
5300 |
C-T |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229015 |
5372 |
A-G |
syn |
MT-ND2 |
Breast Cancer |
Africain |
20091229016 |
5420 |
T-C |
syn |
MT-ND2 |
Breast Cancer |
Amerindian |
20100906001 |
7717 |
A-G |
syn |
MT-CO2 |
Breast cancer |
|
20100906002 |
7799 |
A-G |
I-V |
MT-CO2 |
Breast cancer |
|
20100906003 |
7806 |
T-A |
V-D |
MT-CO2 |
Breast cancer |
|
20100906004 |
7813 |
C-T |
syn |
MT-CO2 |
Breast cancer |
|
20100906005 |
7972 |
A-G |
syn |
MT-CO2 |
Breast cancer |
|
20100906006 |
8017 |
C-T |
syn |
MT-CO2 |
Breast cancer |
|
20070527003 |
9621 |
G-A |
A-T |
MT-CO3 |
Breast Cancer |
Caucasian |
20010303007 |
10707 |
T-G |
S-A |
MT-ND4L |
Breast Cancer |
Caucasian |
20091229017 |
10816 |
A-G |
syn |
MT-ND4 |
Breast Cancer |
Africain |
20091229018 |
10837 |
C-T |
syn |
MT-ND4 |
Breast Cancer |
Africain |
20091229019 |
11287 |
T-C |
syn |
MT-ND4 |
Breast Cancer |
Africain |
20091229020 |
11329 |
A-G |
syn |
MT-ND4 |
Breast Cancer |
Africain |
20070527008 |
11503 |
C-G |
syn |
MT-ND4 |
Breast Cancer |
Caucasian |
20070527006 |
11567 |
A-G |
I-V |
MT-ND4 |
Breast Cancer |
Caucasian |
20010303008 |
11696 |
G-A |
V-I |
MT-ND4 |
Breast Cancer |
Caucasian |
20010303004 |
11723 |
A-G |
T-A |
MT-ND4 |
Breast Cancer |
Caucasian |
20010303001 |
11734 |
A-G |
syn |
MT-ND4 |
Breast Cancer |
Caucasian |
20040720011 |
11878 |
T-C |
syn |
MT-ND4 |
Breast Cancer |
Asian |
20010301008 |
12237 |
C-T |
noncod |
MT-TS2 |
Breast Cancer |
Caucasian |
20010303002 |
12251 |
A-G |
noncod |
MT-TS2 |
Breast Cancer |
Caucasian |
20070527001 |
12251 |
A-G |
tRNA |
MT-TS2 |
Breast Cancer |
Caucasian |
20091229021 |
12400 |
A-G |
T-A |
MT-ND5 |
Breast Cancer |
Africain |
20040720012 |
12438 |
T-C |
syn |
MT-ND5 |
Breast Cancer |
Asian |
20091229022 |
12542 |
C-T |
A-V |
MT-ND5 |
Breast Cancer |
Africain |
20040720013 |
12630 |
G-A |
syn |
MT-ND5 |
Breast Cancer |
Asian |
20040720016 |
14207 |
G-A |
T-I |
MT-ND6 |
Breast Cancer |
Caucasian |
20010303005 |
14783 |
T-C |
L-I |
MT-CYB |
Breast Cancer |
Caucasian |
20010301005 |
15257 |
G-A |
D-N |
MT-CYB |
Breast Cancer |
Caucasian |
20140422002 |
15556 |
C-G |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422004 |
15580 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422005 |
15581 |
A-G |
T-A |
MT-CYB |
Breast cancer |
Senegalese |
20140422008 |
15590 |
C-A |
R-TERM |
MT-CYB |
Breast cancer |
Senegalese |
20140422010 |
15595 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422011 |
15596 |
G-A |
V-I |
MT-CYB |
Breast cancer |
Senegalese |
20140422013 |
15614 |
G-A |
G-S |
MT-CYB |
Breast cancer |
Senegalese |
20140422014 |
15619 |
G-A |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422015 |
15622 |
T-G |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422016 |
15628 |
A-C |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422017 |
15629 |
T-C |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422018 |
15631 |
A-G |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422019 |
15637 |
C-G |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422020 |
15637 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422021 |
15640 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422022 |
15641 |
C-T |
L-F |
MT-CYB |
Breast cancer |
Senegalese |
20140422023 |
15643 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422024 |
15646 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140422025 |
15653 |
A-G |
M-V |
MT-CYB |
Breast cancer |
Senegalese |
20140422026 |
15654 |
T-C |
M-T |
MT-CYB |
Breast cancer |
Senegalese |
20140422027 |
15655 |
A-C |
M-I |
MT-CYB |
Breast cancer |
Senegalese |
20140422028 |
15664 |
C-A |
I-M |
MT-CYB |
Breast cancer |
Senegalese |
20140423001 |
15667 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140423002 |
15689 |
A-T |
M-L |
MT-CYB |
Breast cancer |
Senegalese |
20140423003 |
15700 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140423004 |
15704 |
C-A |
L-M |
MT-CYB |
Breast cancer |
Senegalese |
20140423005 |
15704 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140423006 |
15732 |
C-T |
A-V |
MT-CYB |
Breast cancer |
Senegalese |
20140423007 |
15749 |
C-T |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140423008 |
15754 |
C-A |
Syn |
MT-CYB |
Breast cancer |
Senegalese |
20140423009 |
15767 |
C-A |
Q-K |
MT-CYB |
Breast cancer |
Senegalese |
20140423010 |
15787 |
T-G |
F-L |
MT-CYB |
Breast cancer |
Senegalese |
20140423011 |
15792 |
T-C |
I-T |
MT-CYB |
Breast cancer |
Senegalese |
20070527002 |
16504 |
G-A |
non-coding |
Control Region |
Breast Cancer |
Caucasian |
20070527007 |
16527 |
C-T |
non-coding |
Control Region |
Breast Cancer |
Caucasian |
20100125003 |
6527 |
A-T |
M-I |
MT-CO1 |
bilateral sensorineural hearing loss, mental and language disorder, bilateral cataract, retinitis pigmentosa, pyramidal syndrome with calcification of basal ganglia and epilepsy |
Tunisian |
20071014001 |
8529 |
G-A |
W-Ter |
MT-ATP8 |
Apical HCM |
. |
20090714006 |
3609 |
C-T |
no |
MT-ND1 |
Aminoglycoside-induced hearing loss |
Caucasian |
20090714007 |
9186 |
C-A |
syn |
MT-ATP6 |
Aminoglycoside-induced hearing loss |
Caucasian |
20090910001 |
13468 |
C-A |
L-M |
MT-ND5 |
Aminoglycoside-induced hearing loss |
Caucasian |
20080111001 |
8860 |
A-G |
T-A |
MT-ATP6 |
Abdominal Aortic Aneurysm |
Caucasian |
20071014002 |
8529 |
G-A |
syn |
MT-ATP6 |
. |
. |
20000211004 |
125 |
T-G |
noncod |
D-Loop |
- |
Chinese |
20000211002 |
195 |
T-A |
noncod |
D-Loop |
- |
Indian |
20000211003 |
246 |
T-C |
noncod |
D-Loop |
- |
Indian |
20000211005 |
329 |
G-A |
noncod |
D-Loop |
- |
Malay |
20000915002 |
447 |
C-G |
noncod |
D-Loop |
- |
Punjabi |
20000914001 |
463 |
C-T |
noncod |
D-Loop |
- |
- |
20000211009 |
469 |
C-A |
noncod |
D-Loop |
- |
Punjabi |
20000211001 |
482 |
T-C |
noncod |
D-Loop |
- |
Indian |
20000914002 |
485 |
T-C |
noncod |
D-Loop |
- |
Indian |
20000914003 |
560 |
C-T |
noncod |
D-Loop |
- |
Kadazan-Dusun |
19990316006 |
711 |
T-C |
noncod |
MT-RNR1 |
- |
- |
19990316007 |
3116 |
C-T |
noncod |
MT-RNR2 |
- |
- |
19990316008 |
3184 |
C-T |
noncod |
MT-RNR2 |
- |
- |
20051007006 |
3221 |
A-G |
rRNA |
MT-RNR2 |
- |
Caucasian |
20060518004 |
3342 |
C-T |
syn |
MT-ND1 |
- |
Caucasian |
20040217001 |
3507 |
C-T |
syn |
MT-ND1 |
- |
Caucasian |
19990316009 |
3594 |
C-T |
syn |
MT-ND1 |
- |
- |
19990316010 |
3666 |
G-A |
syn |
MT-ND1 |
- |
- |
19990316011 |
3693 |
G-A |
syn |
MT-ND1 |
- |
- |
20060518005 |
3943 |
A-G |
I-V |
MT-ND1 |
- |
Caucasian |
20060518006 |
4065 |
A-G |
syn |
MT-ND1 |
- |
Caucasian |
19990316012 |
4104 |
A-G |
syn |
MT-ND1 |
- |
- |
20050318001 |
4310 |
A-G |
tRNA |
MT-TI |
- |
Caucasian |
20010301003 |
4917 |
A-G |
N-D |
MT-ND2 |
- |
Caucasian |
19990316013 |
5036 |
A-G |
syn |
MT-ND2 |
- |
- |
19990316014 |
5046 |
G-A |
V-I |
MT-ND2 |
- |
- |
19990316015 |
5054 |
G-A |
syn |
MT-ND2 |
- |
- |
20010301002 |
5198 |
A-G |
syn |
MT-ND2 |
- |
Caucasian |
19990316016 |
5390 |
A-G |
syn |
MT-ND2 |
- |
- |
19990316017 |
5393 |
T-C |
syn |
MT-ND2 |
- |
- |
20010301004 |
5471 |
G-A |
syn |
MT-ND2 |
- |
Caucasian |
19990316018 |
5485 |
T-C |
I-T |
MT-ND2 |
- |
- |
19990316019 |
5655 |
T-C |
noncod |
MT-TA |
- |
- |
19990316020 |
6152 |
T-C |
syn |
MT-CO1 |
- |
- |
19990316021 |
6548 |
C-T |
syn |
MT-CO1 |
- |
- |
19990316022 |
6663 |
A-G |
I-V |
MT-CO1 |
- |
- |
19990316023 |
6827 |
T-C |
syn |
MT-CO1 |
- |
- |
19990316024 |
6989 |
A-G |
syn |
MT-CO1 |
- |
- |
19990316025 |
7146 |
A-G |
T-A |
MT-CO1 |
- |
- |
19990316026 |
7158 |
A-G |
I-V |
MT-CO1 |
- |
- |
19990316027 |
7175 |
T-C |
syn |
MT-CO1 |
- |
- |
19990316028 |
7256 |
C-T |
syn |
MT-CO1 |
- |
- |
19990316029 |
7274 |
C-T |
syn |
MT-CO1 |
- |
- |
19990316030 |
7389 |
T-C |
Y-H |
MT-CO1 |
- |
- |
19990316031 |
7819 |
C-A |
syn |
MT-CO2 |
- |
- |
19990316032 |
8205 |
T-A |
M-K |
MT-CO2 |
- |
- |
20040608003 |
8350 |
A-G |
tRNA |
MT-TK |
- |
Caucasian |
20040608004 |
8388 |
T-C |
V-A |
MT-ATP8 |
- |
Caucasian |
20060518002 |
8389 |
A-G |
syn |
MT-ATP8 |
- |
Caucasian |
19990316033 |
8857 |
G-T |
G-C |
MT-ATP6 |
- |
- |
19990316034 |
8932 |
C-T |
P-S |
MT-ATP6 |
- |
- |
20040811001 |
9152 |
T-C |
I-T |
MT-ATP6 |
- |
- |
20040811002 |
9163 |
G-A |
V-I |
MT-ATP6 |
- |
- |
19990316035 |
10873 |
T-C |
syn |
MT-ND4 |
- |
- |
19990316036 |
10876 |
A-G |
syn |
MT-ND4 |
- |
- |
19990316037 |
10978 |
A-G |
syn |
MT-ND4 |
- |
- |
19990316038 |
11016 |
G-A |
S-N |
MT-ND4 |
- |
- |
20010301001 |
11087 |
T-C |
F-L |
MT-ND4 |
- |
Caucasian |
19990316039 |
11167 |
A-G |
syn |
MT-ND4 |
- |
- |
19990316040 |
11470 |
A-G |
syn |
MT-ND4 |
- |
- |
19990316041 |
11732 |
T-C |
syn |
MT-ND4 |
- |
- |
20051007005 |
11776 |
T-G |
S-Ter |
MT-ND4 |
- |
Caucasian |
19990906001 |
12573 |
C-T |
syn |
MT-ND5 |
- |
- |
19990316043 |
13789 |
T-C |
T-H |
MT-ND5 |
- |
- |
19990316044 |
13880 |
C-A |
S-Y |
MT-ND5 |
- |
- |
19990316045 |
14007 |
A-G |
syn |
MT-ND5 |
- |
- |
19990316046 |
14037 |
A-G |
syn |
MT-ND5 |
- |
- |
19990316047 |
14142 |
C-T |
syn |
MT-ND5 |
- |
- |
19990316048 |
14169 |
C-T |
E-N |
MT-ND6 |
- |
- |
19990316049 |
14178 |
T-C |
I-V |
MT-ND6 |
- |
- |
19990316050 |
14203 |
A-G |
syn |
MT-ND6 |
- |
- |
19990316051 |
14757 |
T-C |
M-T |
MT-CYB |
- |
- |
19990316052 |
14768 |
A-G |
N-D |
MT-CYB |
- |
- |
19990316053 |
14793 |
A-G |
H-R |
MT-CYB |
- |
- |
19990316055 |
16051 |
A-G |
noncod |
D-Loop |
- |
- |
20000211006 |
16157 |
T-C |
noncod |
D-Loop |
- |
Rungus |
20000915003 |
16157 |
T-A |
noncod |
D-Loop |
- |
Murut |
20080730001 |
16183 |
A-G |
noncod |
D-Loop |
- |
Chinese Tu ethnic group |
20080730002 |
16184 |
C-G |
noncod |
D-Loop |
- |
Chinese Tu ethnic group |
20000224001 |
16187 |
C-G |
noncod |
D-Loop |
- |
Bisaya |
20080730003 |
16189 |
T-A |
noncod |
D-Loop |
- |
Chinese Han ethnic group |
20000211007 |
16192 |
C-A |
noncod |
D-Loop |
- |
Murut |
20000914004 |
16259 |
C-A |
noncod |
D-Loop |
- |
Murut |
20000914005 |
16309 |
A-C |
noncod |
D-Loop |
- |
Punjabi |
20000211008 |
16317 |
A-C |
noncod |
D-Loop |
- |
Malay |
20000914006 |
16318 |
A-C |
noncod |
D-Loop |
- |
Punjabi |
20000915001 |
16337 |
C-T |
noncod |
D-Loop |
- |
Murut |
20120907009 |
67 |
G-C |
noncod |
D-Loop |
|
European |
20120907006 |
74 |
T-G |
noncod |
D-Loop |
|
European |
20160806004 |
96 |
C-A |
|
CR:HVS2 |
|
Iranian |
20140214019 |
183 |
A-G |
non-coding |
Control Region |
|
|
20140214014 |
189 |
A-G |
non-coding |
Control Region |
|
Caucasian |
20140214018 |
203 |
G-A |
non-coding |
Control Region |
|
Caucasian |
20120907005 |
377 |
|
|
|
|
European |
20140214007 |
496 |
C-T |
non-coding |
Control Region |
|
Caucasian |
20130520002 |
522 |
C-T |
non-coding |
Control Region |
|
S\xE3o Paulo |
20130520003 |
526 |
G-A |
non-coding |
Control Region |
|
|
20100804001 |
596 |
T-C |
tRNA |
MT-TF |
|
|
20100804002 |
629 |
T-C |
tRNA |
MT-TF |
|
|
20100804003 |
648 |
A-G |
tRNA |
MT-TF |
|
|
20100804004 |
669 |
T-C |
tRNA |
MT-TF |
|
|
|