Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. 23276700

2013
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337

2011
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. 20100616

2010
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 20021716

2009
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. 17975025

2007
dbSNP: rs151048781
rs151048781
CFTR
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: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR 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: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. 16980811

2006
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? 15287992

2004
dbSNP: rs151048781
rs151048781
CFTR
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: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). 9521595

1998
dbSNP: rs151048781
rs151048781
CFTR
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: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online. 10200050

1998
dbSNP: rs151048781
rs151048781
CFTR
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: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. 9254864

1997
dbSNP: rs151048781
rs151048781
CFTR
0.800 GeneticVariation UNIPROT Structural analysis of CFTR gene in congenital bilateral absence of vas deferens. 7539342

1995
dbSNP: rs151048781
rs151048781
CFTR
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