mitomap-polymorphisms

MITOMAP Disease - Cataloging Human mtDNA Diseases

MITOMAP Disease, part of the MITOMAP human mitochondrial genome database, compiles an extensive, hand-curated list of mitochondrial DNA (mtDNA) variants—19,811 single nucleotide variants (SNVs) as of January 15, 2025—drawn from 61,883 full-length GenBank sequences (hg38-aligned) and updated every 4-6 months. Detailed in Lott et al. (2013) in Current Protocols in Bioinformatics, this resource tracks population-level polymorphisms alongside disease-associated mutations, accessible at https://www.mitomap.org/MITOMAP/resources (disease.cgi feed).

Mind, that gbfreq in mitomap is represented as percent. We divide it by 100 in gbfreq_frac column.

Building instructions

https://github.com/genebe-net/annotation-builder-scripts/tree/main/mitomap-polymorphisms