Human genome-wide association loci and rare germline and somatic variation
Genome-wide associations in or near Human ABC genes were queried in the GWAS Catalog (https://www.ebi.ac.uk/gwas). The gene, phenotype, associated SNP, P value, allele frequency and reference were recorded.
Rare human variants were obtained from the gnomAD database (https://gnomad.broadinstitute.org/). The gene, number of synonymous, non-synonymous, loss-of-function variants were recorded and adjusted for the length of the gene in amino acids.
Variation observed in tumor samples was obtained from the COSMIC database (https://cancer.sanger.ac.uk/cosmic). The number of synonymous, non-synonymous, loss-of-function variants were recorded as well as the tissue type that is most frequently mutated.