rs397518433
A SNP in the GBA gene on chromosome 1. Its most notable genotype is -;G: Carrier of a Gaucher disease mutation
- Gene
- GBA
- Location
- Chr 1155,240,673 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- -;GMost notableBadCarrier of a Gaucher disease mutation
- G;GGoodcommon in clinvar
SNPedia records rs397518433 on the minus strand: (-;C), (C;C). 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
-;G
Unaffected in absence of a second GBA gene mutation; see text and links via main rs-page
Source and license
Adapted from rs397518433 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.