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i4000419

From SNPedia

23andMe dataI4000419
23andMe searchI4000419
opensnpI4000419
Gene (via rs)GBA
GeneGBA
Chromosome1
Position155205563
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

aliasrs80356769
Rs_StabilizedOrientationminus
RsGeno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of Gaucher disease allele
(T;T) 5 Gaucher disease

i4000419, also known as V394L (risk genotype AA)

Possibly associated with Gaucher's disease.

Gaucher Disease

rs80356769