CFTR and cystic fibrosis: The most common carrier allele observed in cystic fibrosis, NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe), also known as the ΔF508 allele, has an AIRD score of 7.3; the third most common carrier allele for Niemann-Pick disease type A, NM_000543.5(SMPD1):c.996del (p.Phe333fs), has an AIRD score of 2; a well-known founder mutation observed in ~10% of patients of Ashkenazi Jewish descent with Tay-Sachs disease, NM_000520.6(HEXA):c.1421+1G>C, has an AIRD score of −0.15, due to its lower allele frequency of 1.97 × 10−5 in the general population according to gnomAD v3.1.