rs386829069
A SNP in the ATP6 gene on chromosome MT. Its most notable genotype is C;C: Likely miscall if from Ancestry data; otherwise, Leigh syndrome mutation
- Gene
- ATP6
- Location
- Chr MT9,191 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CMost notableBadLikely miscall if from Ancestry data; otherwise, Leigh syndrome mutation
- T;TGoodcommon in clinvar
On SNPedia: (C;C), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Notes
From SNPedia
Notes
Known as T9191C in most publications, the original report of pathogenicity for rs386829069(C) is . A functional study published in 2014 of this mutation reported a nearly complete block in yeast Atp6p assembly and an >95% drop in the rate of ATP synthesis for this variant in a yeast assay. This position appears to be prone to being miscalled on some DNA chips as well as in certain sequencing pipelines; the reason for this is unclear.
C;C
Seen too often in Ancestry v2 data compared to reported frequency worldwide, so likely to be a miscall in data from Ancestry. If your data is not from Ancestry, let us know.
Source and license
Adapted from rs386829069 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.