i4000386
A SNP in the GBA gene on chromosome 1. Its most notable genotype is T;T: Gaucher's disease
- Gene
- GBA
- Location
- Chr 1155,204,793 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;ANot ratedNo summary available.
- C;CGoodnormal
- C;TBadcarrier for Gaucher's disease; increased risk for Parkinsons
- T;TMost notableBadGaucher's disease
On SNPedia: (A;A), (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
- rs76763715C;CGaucher's disease, type 1Very important
Notes
From SNPedia
Notes
i4000386, also known as R496H (risk genotype AA) Possibly associated with Gaucher's disease. Gaucher Disease rs80356773
A;A
Previously considered to be a predictor of Gaucher's disease, 23andMe has since removed this as unreliable.
Source and license
Adapted from i4000386 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.