rs146599698

A SNP in the ATP5MD gene on chromosome 10. Its most notable genotype is C;G: Carrier of a Leigh syndrome mutation

Gene
ATP5MD
Location
Chr 10103,392,370 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;GMost notableBadCarrier of a Leigh syndrome mutationImportant · 3.0
  2. G;GGoodcommon/normalTypical · 0.0

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

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs146599698, also known as c.87+1G>C, is a variant in the ATP5MD gene located on chromosome 10; the gene is also known as the USMG5 gene. Acting as an autosomal recessive mutation, the rare rs146599698(C) allele is reported to be a founder mutation in Ashkenazi Jewish populations leading to Leigh syndrome.

C;G

Unaffected in absence of a second mutation in the ATP5MD gene; see text and links via main rs-page.

Source and license

Adapted from rs146599698 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.