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: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.880 GeneticVariation UNIPROT
dbSNP: rs113993958
rs113993958
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR
dbSNP: rs113993958
rs113993958
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
dbSNP: rs121908752
rs121908752
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121908759
rs121908759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121908759
rs121908759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs121909011
rs121909011
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		T 0.800 CausalMutation CLINVAR
dbSNP: rs145449046
rs145449046
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		T 0.800 CausalMutation CLINVAR
dbSNP: rs147422190
rs147422190
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
dbSNP: rs147422190
rs147422190
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		T 0.800 GeneticVariation CLINVAR
dbSNP: rs1800098
rs1800098
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1800098
rs1800098
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
dbSNP: rs200321110
rs200321110
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.800 CausalMutation CLINVAR
dbSNP: rs200321110
rs200321110
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.800 GeneticVariation UNIPROT
dbSNP: rs397508759
rs397508759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397508783
rs397508783
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs11971167
rs11971167
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.720 GeneticVariation UNIPROT
dbSNP: rs80034486
rs80034486
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		G 0.720 CausalMutation CLINVAR
dbSNP: rs113993959
rs113993959
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		T 0.710 CausalMutation CLINVAR
dbSNP: rs115545701
rs115545701
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.710 GeneticVariation UNIPROT
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.710 CausalMutation CLINVAR
dbSNP: rs75789129
rs75789129
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.710 GeneticVariation UNIPROT
dbSNP: rs77010898
rs77010898
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1057516457
rs1057516457
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 GeneticVariation CLINVAR