rs113994094(C;T)
From SNPedia
| Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear |
| Is a | genotype |
| of | rs113994094 |
| Gene | POLG |
| Chromosome | 15 |
| Position | 89,330,184 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a possible mutation for a mitochondrial syndrome, but significance unclear |
Pathogenicity of the minor allele is in question; and, as a recessively inherited condition, a carrier would be unaffected in the absence of another POLG gene mutation
