Talk:Rs386829069
From SNPedia
As I mentioned, the variant is present in 11% of the population. If it were a significant contributor, we would see far more cases of Leigh Syndrome. However, Leigh syndrome is only present in 1 in 40,000 births. I don't think the findings in those papers are reflected in the epidemiology of the disease.
- No, the variant is actually very rare, at least if you look in databases that specialize in calling mitochondrial sequence. For example, the variant has been seen exactly 0 times out of the 45,000+ full length mitochondrial genomes in GenBank as analyzed by MitoMaster. Greg (talk) 18:11, 12 May 2018 (UTC)
