rs199476112

A SNP in the ND4 gene on chromosome MT. Its most notable genotype is A;A: Leber's Optic Atrophy

Gene
ND4
Location
Chr MT11,778 (GRCh38)
Highest magnitude
4.0Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableBadLeber's Optic AtrophyVery important · 4.0
  2. G;GGoodcommon in clinvarTypical · 0.0

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

Conditions, medicines and genes

Other ND4 SNPs

All ND4 SNPs

Notes

From SNPedia

Notes

rs199476112, also known as m.11778G>A, Arg340His and R340H, is a mutation in the mitochondrial ND4 MT-ND4 gene. This is considered to be the most common mutation in patients with Leber's optic atrophy; about 69% of all such patients carry the rs199476112(A) mutation. The penetrance is estimated to be 33-60% among relatives, and 82% in males.MitoMap See also OMIM 516003.0001 rs199476112 is at the location named i5000099 by 23andMe. http://LHON.org http://UMDF.org

A;A

see discussion at rs199476112 http://LHON.org http://UMDF.org

Source and license

Adapted from rs199476112 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.