i4000419
A SNP in the GBA gene on chromosome 1. Its most notable genotype is A;A: Gaucher's disease
- Gene
- GBA
- Location
- Chr 1155,205,563 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadGaucher's disease
- A;CBadcarrier for Gaucher's disease; increased risk for Parkinsons
- C;CGoodnormal
On SNPedia: (A;A), (A;C), (C;C). 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
- 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
i4000419, also known as V394L (risk genotype AA) Possibly associated with Gaucher's disease. Gaucher Disease rs80356769
Source and license
Adapted from i4000419 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.