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.