rs28933383

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

Gene
KCNA1
Location
Chr 124,912,055 (GRCh38)
Highest magnitude
5.8Very important
Tested on
23andMe

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in complete genomicsTypical · 0.0
  2. C;GMost notableBadEpisodic ataxia, type 1Very important · 5.8

On SNPedia: (C;C), (C;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.677C>T (p.Thr226Met or T226M) Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 1 Modifier effects between regulatory and protein-coding variation.

C;C

appears common on the 23andMe microarray

C;G

see text and links via main rs-page

Source and license

Adapted from rs28933383 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.