rs104886460
A SNP in the GBA gene on chromosome 1. Its most notable genotype is A;A: Gaucher disease
- Gene
- GBA
- Location
- Chr 1155,240,629 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CGoodcommon in complete genomics
- A;CBadUnaffected carrier of Gaucher disease variant
- A;AMost notableBadGaucher disease
SNPedia records rs104886460 on the minus strand: (G;G), (G;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
- 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
Show notes, about 130 words
rs104886460 represents a rare variation in the acid beta-glucocerebrosidase (GBA) gene. Gaucher's disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase, and over 200 mutations have been described in the GBA gene, many of which lead to Gaucher Type I or Type II disease. The mutation encoded by rs104886460 is one of the top 5 or so Gaucher-related variations found in Ashkenazi Jews, and is known as "IVS2+1G-A". It is most commonly associated with Gaucher Type I disease but has also been seen associated with Type II disease, apparently depending on the nature of the "other" GBA mutation found in an individual (since it's a recessive condition requiring both alleles to be affected). See also: OMIM 606463.0015
A;C
see rs104886460
A;A
see rs104886460
Source and license
Adapted from rs104886460 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.