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i4000386

From SNPedia

23andMe dataI4000386
23andMe searchI4000386
opensnpI4000386
Gene (via rs)GBA
GeneGBA
Chromosome1
Position155204793
iGeno Mag Summary
(A;A) 1
(C;C) 0 normal
(C;T) 3.5 carrier for Gaucher's disease; increased risk for Parkinsons
(T;T) 5 Gaucher's disease

aliasrs80356773
Rs_StabilizedOrientationminus
RsGeno Mag Summary
(G;G) 0 common in clinvar

i4000386, also known as R496H (risk genotype AA)

Possibly associated with Gaucher's disease.

Gaucher Disease

rs80356773