Rs80356702

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.