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i4000415(C;C)

From SNPedia

Gaucher's disease
is agenotype
ofI4000415
mentionedby
Magnitude6
ReputeBad
Geno 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

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.

http://en.wikipedia.org/wiki/Gaucher%27s_disease#Genetics

i4000415, also known as N370S (risk genotype CC)