| 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
|
| Rs_StabilizedOrientation | plus |
| 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
