rs76763715
A SNP in the GBA gene on chromosome 1. Its most notable genotype is C;C: Gaucher's disease, type 1
- Gene
- GBA
- Location
- Chr 1155,235,843 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadGaucher's disease, type 1
- C;TBadcarrier of Gaucher disease allele; increased Parkinson's risk?
- T;TGoodcommon in clinvar
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
- i4000415C;CGaucher's diseaseVery important
- i4000417G;GGaucher's diseaseVery important
- i4000419A;AGaucher's diseaseVery important
- rs381737T;TGaucher disease (predicted if orientation is correct)Very important
- i4000386T;TGaucher's diseaseVery important
Notes
From SNPedia
Show notes, about 130 words
rs76763715, also known as N370S or Asn370Ser, is a SNP in the GBA gene associated with Gaucher disease. As reported by 23andMe, who use the term i4000415 for this SNP, the N370S mutation is associated only with type 1 Gaucher disease, which usually lacks neurological symptoms. People with either one or two copies of this mutation may have such mild symptoms that their physician never even detects them. 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. Wikipedia
C;C
see discussion at rs76763715
C;T
see discussion at rs76763715
Source and license
Adapted from rs76763715 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.