Three SNPs among the 119 genome-wide significant SNPs for FEV1/FVC are non-synonymous (missense) polymorphisms: rs11155242 (Lys to Gln) in GPR126, rs1422795 (Ser to Gly) in ADAM19, and rs2070600 (Gly to Ser) in AGER. The Polymorphism Phenotyping (PolyPhen) program17 predicts that the amino acid substitutions resulting from rs11155242 and rs1422795 cause benign changes but predicts that rs2070600 has a possibly damaging impact on the structure and function of AGER.
