i4000419
From SNPedia
| 23andMe data | I4000419 |
| 23andMe search | I4000419 |
| opensnp | I4000419 |
| Gene (via rs) | GBA |
| Gene | GBA |
| Chromosome | 1 |
| Position | 155205563 |
| iGeno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Gaucher's disease |
| (A;C) | 3.5 | carrier for Gaucher's disease; increased risk for Parkinsons |
| (C;C) | 0 | normal |
| alias | rs80356769 |
| Rs_StabilizedOrientation | minus |
| RsGeno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Carrier of a Gaucher disease mutation |
| (T;T) | 5 | Gaucher disease |
i4000419, also known as V394L (risk genotype AA)
Possibly associated with Gaucher's disease.
