Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74503330
rs74503330
CFTR
0.820 GeneticVariation BEFREE The potentiator VX-770 (ivacaftor/KALYDECO™) targets defective gating of CFTR and has been approved for treatment of cystic fibrosis (CF) subjects carrying G551D, S1251N or one of 8 other mutations. 27160424

2016
dbSNP: rs74503330
rs74503330
CFTR
0.820 GeneticVariation BEFREE Both patients with the complex allele F508C-S1251N are carrying delta F508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease. 1284535

1992
dbSNP: rs74503330
rs74503330
CFTR
A 0.820 CausalMutation CLINVAR

dbSNP: rs74503330
rs74503330
CFTR
0.820 GeneticVariation UNIPROT