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
