i4000415
A SNP in the GBA gene on chromosome 1. Its most notable genotype is C;C: Gaucher's disease
- Gene
- GBA
- Location
- Chr 1155,205,634 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadGaucher's disease
- C;TBadcarrier for Gaucher's disease; increased risk for Parkinsons disease
- T;TGoodnormal
On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other GBA SNPs
- rs1064651G;Gpossibly Gaucher's disease, but more likely a mis-oriented interpretationVery important
- rs387906315C;CGaucher diseaseVery important
- rs104886460A;AGaucher diseaseVery important
- i4000417G;GGaucher's diseaseVery important
- i4000419A;AGaucher's diseaseVery important
- rs381737T;TGaucher disease (predicted if orientation is correct)Very important
- rs76763715C;CGaucher's disease, type 1Very important
- i4000386T;TGaucher's diseaseVery important
Notes
From SNPedia
Show notes, about 140 words
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
C;C
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)
Source and license
Adapted from i4000415 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.