Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908752
rs121908752
0.800 GeneticVariation UNIPROT Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263

2007

dbSNP: rs121908752
rs121908752
0.800 GeneticVariation UNIPROT A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient. Mutations in brief no. 175. Online. 10651488

1998

dbSNP: rs121908752
rs121908752
0.800 GeneticVariation UNIPROT Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778

1998

dbSNP: rs121908752
rs121908752
0.800 GeneticVariation UNIPROT Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD). 9067761

1997

dbSNP: rs121908752
rs121908752
0.800 GeneticVariation UNIPROT Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 7539342

1995

dbSNP: rs121908752
rs121908752
0.800 GeneticVariation UNIPROT Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962

1995

dbSNP: rs121908752
rs121908752
G 0.800 CausalMutation CLINVAR