rs1057519464(A;C)
From SNPedia
| Carrier of a Tay-Sachs mutation |
| Is a | genotype |
| of | rs1057519464 |
| Gene | HEXA |
| Chromosome | 15 |
| Position | 72,347,711 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a Tay-Sachs mutation |
| (C;C) | 8.8 | Tay-Sachs disease (predicted) |
Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease.
