rs1061517(A;A)
From SNPedia
| common in clinvar |
| Is a | genotype |
| of | rs1061517 |
| Gene | CCDC127, SDHA |
| Chromosome | 5 |
| Position | 218,356 |
| mentioned | by |
| Magnitude | 0 |
| Repute | Good |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a mitochondrial complex deficiency mutation |
| (A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
| (A;T) | 6.2 | Hereditary PGL/PCC Syndrome |
| (G;G) | 0 | Observed in a family trio, seems harmless (but has been published as associated with Leigh syndrome) |
