i4000417
A SNP in the GBA gene on chromosome 1. Its most notable genotype is G;G: Gaucher's disease
- Gene
- GBA
- Location
- Chr 1155,210,452 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- D;DGoodNo summary available.
- D;IBadcarrier for Gaucher disease allele; increased risk for Parkinsons
- G;GMost notableBadGaucher's disease
On SNPedia: (D;D), (D;I), (G;G). 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
- 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
Notes
i4000417, also known as 84GG (risk genotype GG) Associated with Gaucher's disease. Outside of 23andMe, the rest of the world calls this SNP rs387906315. Gaucher Disease rs387906315
Source and license
Adapted from i4000417 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.