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.