rs80338794

A SNP in the SLC17A5 gene on chromosome 6. Its most notable genotype is A;A: Salla disease

Gene
SLC17A5
Location
Chr 673,644,583 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. A;GBadFinnish major Salla disease mutation carrierImportant · 3.0
  3. A;AMost notableBadSalla diseaseVery important · 5.0

SNPedia records rs80338794 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs80338794, also known as c.115C>T, R39C or Arg39Cys, is a rare mutation in the sialin protein SLC17A5 gene leading to Salla disease, a neurodegenerative disease primarily associated with Finland and Sweden. 23andMe name: i5012634

A;A

This genotype results in Salla disease, as a homozygous carrier of the Salla disease mutation most prevalent in Finland.

Source and license

Adapted from rs80338794 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.