rs730880031

A SNP in the CHCHD10 gene on chromosome 22. Its most notable genotype is A;C: Spinal muscular atrophy, Jokela type

Gene
CHCHD10
Location
Chr 2223,767,438 (GRCh38)
Highest magnitude
6.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. A;CMost notableBadSpinal muscular atrophy, Jokela typeVery important · 6.0

SNPedia records rs730880031 on the minus strand: (G;G), (G;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

rs730880031, also known as c.197G>T, p.Gly66Val and G66V, is a rare mutation in the CHCHD10 gene on chromosome 22. As an autosomal dominant, one copy of the rs730880031(T) allele is reported to be sufficient to lead to the Jokela type of spinal muscular atrophy, which is also known as Late-onset spinal motor neuronopathy (LOSMoN). See also OMIM 615903.0003

A;C

see discussion at rs730880031

Source and license

Adapted from rs730880031 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.