Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here. 19810821

2009
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 17413420

2007
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493

2006
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. 10875853

2000
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. 9305991

1997
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962

1995
dbSNP: rs191456345
rs191456345
CFTR
0.800 GeneticVariation UNIPROT