CFTR and cystic fibrosis: CAV2 is located ~1 Mb from CFTR and higher than expected frequencies of CAV2 rs8940 alternate alleles were found in individuals with various CFTR mutations that cause CF, including F508del-CFTR, N1303K, G542X and W1282X (S3 Table), resulting in an association between CFTR mutation and CAV2 rs8940.