Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
0.720 GeneticVariation BEFREE To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia. 21976147

2011

dbSNP: rs80034486
rs80034486
0.720 GeneticVariation BEFREE The CFTR genotype N1303K/IVS8-5T can cause very mild cystic fibrosis (CF) and congenital bilateral absence of the vas deferens (CBAVD). 17127107

2007

dbSNP: rs80034486
rs80034486
G 0.720 CausalMutation CLINVAR