CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital bilateral aplasia of vas deferens ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508463
rs397508463
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337 2011
dbSNP: rs397508463
rs397508463
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? 20059485 2010
dbSNP: rs397508463
rs397508463
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. 10923036 2000
dbSNP: rs397508463
rs397508463
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997
dbSNP: rs397508463
rs397508463
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR A novel missense mutation in exon 16 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in CBAVD patients. 8829643 1996
dbSNP: rs397508463
rs397508463
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype relationships in a cohort of adult cystic fibrosis patients. 8947061 1996