Variant | Locus | Aa Change | MitoMap Associated Disease(s) | Wellderly | n = 200 | GB | n = 32,059 | 1000G |
---|---|---|---|---|---|---|---|---|
 |  |  |  | AC | AF | AC | AF | AF |
961C | MT-RNR1 | Â | DEAF possibly LVNC-associated | 2 | 0.010 | 317 | 0.010 | 0.0066 |
961G | MT-RNR1 | Â | Possibly DEAF-associated | 2 | 0.010 | 123 | 0.004 | 0.0008 |
2352C | MT-RNR2 | Â | Possibly LVNC-associated | 1 | 0.005 | 839 | 0.026 | 0.0737 |
2361A | MT-RNR2 | Â | Possibly LVNC-associated | 1 | 0.005 | 107 | 0.003 | 0.0058 |
3010A | MT-RNR2 | Â | Cyclic Vomiting Syndrome with Migraine | 1 | 0.005 | 5046 | 0.157 | 0.1043 |
3796G | MT-ND1 | T164A | Adult-Onset Dystonia | 1 | 0.005 | 174 | 0.005 | 0.0029 |
4454C | MT-TM | Â | Possible contributor to mito dysfunction / HTA | 1 | 0.005 | 185 | 0.006 | 0.0041 |
5913A | MT-CO1 | D4N | Prostate Cancer/hypertension | 2 | 0.010 | 241 | 0.008 | 0.0029 |
6253C | MT-CO1 | M117T | Prostate Cancer | 2 | 0.010 | 355 | 0.011 | 0.0103 |
6261A | MT-CO1 | A120T | Prostate Cancer / LHON | 1 | 0.005 | 176 | 0.005 | 0.0054 |
6489A | MT-CO1 | L196I | Therapy-Resistant Epilepsy | 2 | 0.010 | 67 | 0.002 | 0.0008 |
7041A | MT-CO1 | V380I | Prostate Cancer | 1 | 0.005 | 5 | 0.000 | 0.0004 |
8393T | MT-ATP8 | P10S | Reversible brain pseudoatrophy | 3 | 0.015 | 127 | 0.004 | 0.0021 |
9055A | MT-ATP6 | A177T | PD protective factor | 2 | 0.010 | 1581 | 0.049 | 0.0189 |
10454C | MT-TR | Â | DEAF helper mut | 1 | 0.005 | 118 | 0.004 | 0.0033 |
11467G | MT-ND4 | syn | Altered brain pH | 1 | 0.005 | 4213 | 0.131 | 0.0717 |
12372A | MT-ND5 | syn | Altered brain pH | 1 | 0.005 | 4519 | 0.141 | 0.0829 |
14687G | MT-TE | Â | Mito myopathy w respiratory failure | 4 | 0.020 | 211 | 0.007 | 0.0074 |
15927A | MT-TT |  | Multiple Sclerosis / DEAF1555 inc. penetrance | 3 | 0.015 | 317 | 0.010 | 0.007 |
16093C | MT-DLOOP | Â | Cyclic Vomiting Syndrome | 14 | 0.070 | 3982 | 0.124 | 0.0567 |
16176T | MT-DLOOP | Â | Cyclic Vomiting Syndrome with Migraine | 2 | 0.010 | 523 | 0.016 | 0.0029 |
16183C | MT-DLOOP | Â | Melanoma patients | 12 | 0.060 | 9632 | 0.300 | 0.0869 |
16192T | MT-DLOOP | Â | Melanoma patients | 11 | 0.055 | 3087 | 0.096 | 0.0488 |
16270T | MT-DLOOP | Â | Melanoma patients | 8 | 0.040 | 3111 | 0.097 | 0.0562 |