rs199476104
A SNP in the ND6 gene on chromosome MT. Its most notable genotype is C;C: Leber's Optic Atrophy
- Gene
- ND6
- Location
- Chr MT14,484 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 150 words
rs199476104, also known as m.14484T>C, Met64Val and M64V, is a mutation in the mitochondrial ND6 MT-ND6 gene. This is considered to be one of the three most common mutations in patients with Leber's optic atrophy; about 14% of all such patients carry the rs199476104(C) mutation. The penetrance is estimated to be 27-80% among relatives, and 68% in males.MitoMap See also OMIM 516006.0001 23andMe makes up their own name for this SNP: i4000834. Note: Old 23andMe data (pre-~2016; v3 chip data and earlier) may be problematic for certain mitochondrial SNPs, including this one, due to numbering differences in the major databases that have taken place since then.
C;C
see discussion at rs199476104; note that older 23andMe data files use a now out-of-date reference number for this SNP, resulting in a false report of this genotype; this does not affect files more recent than at least 2015.
Source and license
Adapted from rs199476104 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.