rs397518433(-;C)
From SNPedia
| Carrier of a Gaucher disease mutation |
| Is a | genotype |
| of | rs397518433 |
| Gene | GBA |
| Chromosome | 1 |
| Position | 155,240,673 |
| mentioned | by |
| Magnitude | 3 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (-;C) | 3 | Carrier of a Gaucher disease mutation |
| (C;C) | 0 | common in clinvar |
Unaffected in absence of a second GBA gene mutation; see text and links via main rs-page
