rs199476118
A SNP in the ND1 gene on chromosome MT. Its most notable genotype is A;A: Leber's Optic Atrophy
- Gene
- ND1
- Location
- Chr MT3,460 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadLeber's Optic Atrophy
- G;GGoodcommon in clinvar
On SNPedia: (A;A), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
rs199476118, also known as m.3460G>A, Ala52Thr and A52T, is a mutation in the mitochondrial ND1 MT-ND1 gene. This is considered to be one of the three most common mutations in patients with Leber's optic atrophy; about 13% of all such patients carry the rs199476118(A) mutation. The penetrance is estimated to be 14-75% among relatives, and 40-80% in males.MitoMap See also OMIM 516000.0001
A;A
see discussion at rs199476118
Source and license
Adapted from rs199476118 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.