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i4000415

From SNPedia

23andMe dataI4000415
23andMe searchI4000415
opensnpI4000415
Gene (via rs)GBA
GeneGBA
Chromosome1
Position155205634
iGeno Mag Summary
(C;C) 6 Gaucher's disease
(C;T) 3.5 carrier for Gaucher's disease; increased risk for Parkinsons disease
(T;T) 0 normal

aliasrs76763715
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(C;C) 6 Gaucher's disease, type 1
(C;T) 3 carrier of Gaucher disease allele; increased Parkinson's risk?
(T;T) 0 common in clinvar

i400415, also known as N370S (risk genotype CC)

Possibly associated with Gaucher's disease.

  • Type I (N370S homozygote), the most common, also called the "non-neuropathic" type occurs mainly in Ashkenazi Jews, at 100 times the occurrence in the general populace. The median age at diagnosis is 28 years of age, and life expectancy is mildly decreased. There are no neurological symptoms.

rs76763715 Parkinson's disease Gaucher Disease