rs80356769
A SNP in the GBA gene on chromosome 1. Its most notable genotype is A;A: Gaucher disease
- Gene
- GBA
- Location
- Chr 1155,235,772 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- A;CBadCarrier of a Gaucher disease mutation
- A;AMost notableBadGaucher disease
SNPedia records rs80356769 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
- rs76763715C;CGaucher's disease, type 1Very important
Notes
From SNPedia
Notes
rs80356769, also known as V394L or Val394Leu, is a SNP in the GBA gene associated with Gaucher disease. As reported by 23andMe, who use the term i4000419 for this SNP, the V394L mutation is found in about 1 out of 1,000 Ashkenazi Jews. Complex alleles of the acid beta-glucosidase gene in Gaucher disease. Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene.
A;C
Unaffected in absence of a second GBA gene mutation; see text and links via main rs-page
Source and license
Adapted from rs80356769 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.