rs121907982(A;C)
From SNPedia
| Carrier of a Sandhoff disease mutation |
| Is a | genotype |
| of | rs121907982 |
| Gene | HEXB |
| Chromosome | 5 |
| Position | 74,718,921 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Carrier of a Sandhoff disease mutation |
Presumably unaffected in absence of a second HEXB gene mutation; see links via main rs-page.
