CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142394380
rs142394380
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		C 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: rs193922504
rs193922504
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		C 0.800 GeneticVariation CLINVAR
dbSNP: rs193922516
rs193922516
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 GeneticVariation CLINVAR
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: rs201978662
rs201978662
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397508146
rs397508146
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397508223
rs397508223
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397508267
rs397508267
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		C 0.800 CausalMutation CLINVAR
dbSNP: rs397508272
rs397508272
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397508277
rs397508277
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397508378
rs397508378
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR
dbSNP: rs397508480
rs397508480
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR
dbSNP: rs397508616
rs397508616
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		G 0.800 CausalMutation CLINVAR
dbSNP: rs397508759
rs397508759
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR
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: rs75763344
rs75763344
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs75763344
rs75763344
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR