rs121907966(C;T)
From SNPedia
| Carrier of a Tay-Sachs mutation |
| Is a | genotype |
| of | rs121907966 |
| Gene | HEXA |
| Chromosome | 15 |
| Position | 72,345,477 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Tay-Sachs mutation |
| (T;T) | 8.8 | Tay-Sachs disease (predicted) |
Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease.
