High-resolution map of the non-coding region of mtDNA (d-loop) showing allele frequencies in 7,729 control subjects and the position of alleles associated with eight common human diseases; where: AS = ankylosing spondylitis, IS = ischaemic stroke, MS = multiple sclerosis, PD = Parkinson's disease, PBC = primary biliary cirrhosis, UC = ulcerative colitis and SP = schizophrenia.
posted on 2014-05-22, 03:05authored byGavin Hudson, Aurora Gomez-Duran, Ian J. Wilson, Patrick F. Chinnery
Alleles associated with multiple diseases are shown in Table 2. Alleles associated with single diseases are shown in Table S1. Y-axis: minor allele frequency (MAF) in 7,729 control subjects. X-axis: position on the mitochondrial genome based on the revised Cambridge Reference Sequence (rCRS, NC_012920) with corresponding regions annotated below.