rs121907954(A;G)
From SNPedia
| Carrier for a Tay-Sachs mutation |
| Is a | genotype |
| of | rs121907954 |
| Gene | HEXA |
| Chromosome | 15 |
| Position | 72,350,518 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 8.8 | Tay-Sachs disease (predicted) |
| (A;G) | 3 | Carrier for a Tay-Sachs mutation |
| (C;C) | 2 | If from Ancestry, this is a miscall and you are normal for this SNP; if from another company, please contact us. |
| (C;G) | 3 | Carrier of a Tay-Sachs mutation |
| (G;G) | 0 | common in clinvar |
Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease
