rs28940871(C;G)
From SNPedia
| Carrier of a Tay-Sachs mutation |
| Is a | genotype |
| of | rs28940871 |
| Gene | HEXA |
| Chromosome | 15 |
| Position | 72,346,305 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a Tay-Sachs mutation |
| (G;G) | 5 | 23andMe = Tay-Sachs disease likely, but on other platforms this may be the normal form |
Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease.
