rs137852619
A SNP in the SLC1A3 gene on chromosome 5. Its most notable genotype is C;G: Episodic ataxia, type 6
- Gene
- SLC1A3
- Location
- Chr 536,679,635 (GRCh38)
- Highest magnitude
- 5.8Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GMost notableBadEpisodic ataxia, type 6
On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Notes
From SNPedia
Notes
aka c.869C>G (p.Pro290Arg or P290R) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 6 See also OMIM 600111.0001
C;G
see text and links via main rs-page
Source and license
Adapted from rs137852619 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.