Gene: CFTR ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
0.880 GeneticVariation UNIPROT

dbSNP: rs121908752
rs121908752
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: rs121908759
rs121908759
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: rs121909011
rs121909011
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: rs145449046
rs145449046
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
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: rs397508759
rs397508759
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: rs397508783
rs397508783
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: rs121908752
rs121908752
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: rs121908752
rs121908752
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: rs121908759
rs121908759
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: rs121908759
rs121908759
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: rs121909011
rs121909011
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: rs121909011
rs121909011
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: rs145449046
rs145449046
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: rs145449046
rs145449046
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
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
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: rs397508759
rs397508759
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: rs397508759
rs397508759
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: rs397508783
rs397508783
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: rs397508783
rs397508783
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: rs121908752
rs121908752
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: rs121908759
rs121908759
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: rs121909011
rs121909011
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