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: 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: rs113993958
rs113993958
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR
dbSNP: rs121908750
rs121908750
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.800 CausalMutation CLINVAR
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: rs121908753
rs121908753
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
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 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: rs121909006
rs121909006
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909006
rs121909006
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909008
rs121909008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909008
rs121909008
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.800 GeneticVariation CLINVAR
dbSNP: rs121909009
rs121909009
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.800 CausalMutation 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: rs121909013
rs121909013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.800 CausalMutation CLINVAR
dbSNP: rs121909015
rs121909015
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909016
rs121909016
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909017
rs121909017
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909028
rs121909028
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909031
rs121909031
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.800 CausalMutation CLINVAR
dbSNP: rs121909033
rs121909033
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909035
rs121909035
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.800 CausalMutation CLINVAR
dbSNP: rs121909037
rs121909037
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR
dbSNP: rs121909042
rs121909042
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR
dbSNP: rs139468767
rs139468767
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.800 CausalMutation CLINVAR