Extended Data Fig. 5: Fine-mapping and RVAS of UKB mtCNadj.
From: Nuclear genetic control of mtDNA copy number and heteroplasmy in humans
a. Upper panel shows UKB mtCNadj GWAS meta-analysis p-values at the chromosome 14 locus, visualized in GRCh38. Middle panel shows variants in the two 95% credible sets identified at this locus, with large diamonds corresponding to the highest PIP variants in each credible set. Bottom panel shows protein-coding gene annotations at this locus. Variant overlapping APEX1 is a missense variant in APEX1. b. Distribution of sizes of credible sets identified via fine-mapping for mtCNadj. Numbers atop shaded region correspond to size of CS; numbers within shaded region corresponds to the count of credible sets of that size. RVAS gene-based Manhattan plot showing SKAT-O p-values using missense + LoF variation restricted to variants with MAF c. < 0.0001 and d. < 0.01. Red line is genome-wide significant at 0.05/number of genes tested.
