Index | ID | Position | Refna | Regna | AlleleType | NAChange | AAChange | Locus | Phenotype | Ethnicity |
---|---|---|---|---|---|---|---|---|---|---|
1 | 20100804015 | 896 | A | G | polymorphism | A-G | rRNA | MT-RNR1 | ||
2 | 20110503002 | 960 | C | A | polymorphism | C-A | rRNA | MT-RNR1 | Congenital Non-syndromic Deafness | |
3 | 20060913001 | 961 | T | A | polymorphism | T-A | rRNA | MT-RNR1 | Deafness | Russian |
4 | 20110302015 | 1011 | C | A | polymorphism | C-A | rRNA | MT-RNR1 | combined complex I + IV deficiency | |
5 | 20110302018 | 1886 | G | A | polymorphism | G-A | rRNA | MT-RNR2 | combined complex I + IV deficiency, Mitochondrial Myopathy | |
6 | 20041220003 | 2644 | A | G | polymorphism | A-G | rRNA | MT-RNR2 | Oral Cancer | Asian Indian-Marathi |
7 | 20010828006 | 3160 | A | T | polymorphism | A-T | noncod | MT-RNR2 | Sporadic Parathyroid Adenoma | - |
8 | 20070709002 | 1557 | A | C | polymorphism | A-C | rRNA | MT-RNR1 | Deafness | Russian |
9 | 20160806001 | 8923 | ACACCT | del | deletion | ACACCT-del | truncation | ATP6 | Iranian | |
10 | 20160806002 | 8539 | C | A | polymorphism | C-A | ATP6: L-M, ATP8: I-M | ATP8, ATP6 | presbycusis | Iranian |
11 | 20160806003 | 8682 | A | G | polymorphism | A-G | sym | ATP6 | presbycusis | Iranian |
12 | 20160806004 | 96 | C | A | polymorphism | C-A | CR:HVS2 | Iranian | ||
13 | 20160806005 | 15864 | A | G | polymorphism | A-G | E-G | CYB | Iranian | |
14 | 20160806006 | 15906 | A | T | polymorphism | A-T | tRNA.T | Iranian | ||
15 | 20160806007 | 16046 | T | G | polymorphism | T-G | CR:HVS1/HV1 | Iranian | ||
16 | 20161022001 | 1147 | G | A | polymorphism | G-A | RNR1 | hearing loss | Iranian |