rs387906315
A SNP in the GBA gene on chromosome 1. Its most notable genotype is C;C: Gaucher disease
- Gene
- GBA
- Location
- Chr 1155,240,660 (GRCh38)
- Highest magnitude
- 8.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;CBadCarrier of a Gaucher disease mutation
- C;CMost notableBadGaucher disease
SNPedia records rs387906315 on the minus strand: (-;-), (-;G), (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
- 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
- i4000386T;TGaucher's diseaseVery important
Notes
From SNPedia
Notes
rs387906315, also known as c.84dupG, p.Leu29Alafs*18 or 84GG, is a causal mutation for Gaucher's disease. 23andMe chooses to use their own name, i4000417, for this SNP.
-;C
Unaffected in absence of a second GBA gene mutation
C;C
Known as the 84GG GBA mutation, this is a causal genotype for Gaucher's disease.
Source and license
Adapted from rs387906315 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.