Summary of significant mtSNPs.

Genomic position in base pairs (bp), alleles, rs_number, and point mutation are based on the NCBI dbSNP GRCh38 human genome assembly (rCRS, GeneBank ID J01415.2). Alleles are given in terms of major→minor allele. The population minor allele frequency “maf” is based on 2,704 individuals provided by mitomap (http://www.mitomap.org). Note that these allele frequency estimates do not account for the presence of heteroplasmy. An estimated effect size (βSNP) Summary of significant mtSNPs.