rs387906309(-;TATC)
From SNPedia
Carrier for a Tay-Sachs mutation |
Is a | genotype |
of | rs387906309 |
Gene | HEXA |
Chromosome | 15 |
Position | 72,346,579 |
mentioned | by |
Magnitude | 3 |
Repute | Bad |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TATC) | 3 | Carrier for a Tay-Sachs mutation |
(TATC;TATC) | 8.8 | Tay-Sachs disease (predicted) |
Unaffected in absence of a second HEXA gene mutation; see discussion at rs387906309 and at Tay-Sachs disease