rs104894353

A SNP in the KCNA1 gene on chromosome 12. Its most notable genotype is C;G: Episodic ataxia, type 1

Gene
KCNA1
Location
Chr 124,912,353 (GRCh38)
Highest magnitude
5.8Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;GMost notableBadEpisodic ataxia, type 1Very important · 5.8
  2. G;GGoodcommon in clinvarTypical · 0.0

On SNPedia: (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other KCNA1 SNPs

All KCNA1 SNPs

Notes

From SNPedia

Notes

aka c.975G>C (p.Glu325Asp or E325D) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 1 See also OMIM 176260.0006

C;G

see text and links via main rs-page

Source and license

Adapted from rs104894353 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.