rs2230288
A SNP in the GBA gene on chromosome 1. Its most notable genotype is T;T: Homozygous for E326K variant of GBA gene
- Gene
- GBA
- Location
- Chr 1155,236,376 (GRCh38)
- Highest magnitude
- 1.0Minor
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableNot ratedHomozygous for E326K variant of GBA gene
- C;TNot ratedE326K variant in GBA gene
- C;CGoodcommon in clinvar
SNPedia records rs2230288 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 5 HapMap populations.
- AverageT;T 0% C;T 2% C;C 98%
- European ancestry (Utah)T;T 0% C;T 4% C;C 96%
- Han Chinese (Beijing)T;T 0% C;T <1% C;C 99%
- Japanese (Tokyo)T;T 0% C;T 0% C;C 100%
- Yoruba (Nigeria)T;T 0% C;T 0% C;C 100%
- TuscanT;T 0% C;T 3% C;C 97%
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
- 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
rs2230288, also known as E326K or E365K, is a variation in the GBA gene which appears to be well tolerated; in other words, it is not associated with Gaucher disease. However, there is some evidence suggesting it is not a neutral polymorphism; instead, it appears to be a "modifier" variant. A news item from 2016 links rs2230288 to increased risk for rapid eye movement sleep behavior disorder (RBD), which often precedes synucleinopathies such as Parkinson's disease. Note that this research is not published as yet.
Source and license
Adapted from rs2230288 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.