rs80356702

A SNP in the CLCN1 gene on chromosome 7. Its most notable genotype is A;A: Myotonia congenita; quite variable in degree

Gene
CLCN1
Location
Chr 7143,330,868 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadMyotonia congenita; quite variable in degreeVery important · 6.0
  2. A;GBadMyotonia congenita; quite variable in degreeImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other CLCN1 SNPs

All CLCN1 SNPs

Notes

From SNPedia

Notes

rs80356702, also known as c.950G>A or p.Arg317Gln, is a mutation in the CLCN1 gene on chromosome 7. Acting in either an autosomal dominant or recessive manner, the rs80356702(A) allele is considered to cause myotonia congenita; see also OMIM 118425.0011 Note that 23andMe refers to this SNP as i5003257.

A;A

See discussion at myotonia congenita

A;G

see discussion at myotonia congenita

Source and license

Adapted from rs80356702 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.