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: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.900 GeneticVariation CLINVAR
dbSNP: rs78655421
rs78655421
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens
0.880 GeneticVariation UNIPROT
dbSNP: rs193922525
rs193922525
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.840 CausalMutation CLINVAR
dbSNP: rs35516286
rs35516286
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.840 GeneticVariation CLINVAR
dbSNP: rs35516286
rs35516286
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.840 CausalMutation CLINVAR
dbSNP: rs77932196
rs77932196
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.840 CausalMutation CLINVAR
dbSNP: rs77932196
rs77932196
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.840 GeneticVariation CLINVAR
dbSNP: rs121908755
rs121908755
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.830 CausalMutation CLINVAR
dbSNP: rs121908758
rs121908758
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.830 CausalMutation CLINVAR
dbSNP: rs75389940
rs75389940
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.830 CausalMutation CLINVAR
dbSNP: rs121909005
rs121909005
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.820 CausalMutation CLINVAR
dbSNP: rs36210737
rs36210737
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.820 CausalMutation CLINVAR
dbSNP: rs397508288
rs397508288
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.820 CausalMutation CLINVAR
dbSNP: rs74503330
rs74503330
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.820 CausalMutation CLINVAR
dbSNP: rs74503330
rs74503330
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.820 GeneticVariation UNIPROT
dbSNP: rs121909019
rs121909019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.810 CausalMutation CLINVAR
dbSNP: rs397508316
rs397508316
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.810 GeneticVariation CLINVAR
dbSNP: rs397508316
rs397508316
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.810 CausalMutation CLINVAR
dbSNP: rs397508316
rs397508316
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.810 CausalMutation CLINVAR
dbSNP: rs397508531
rs397508531
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.810 CausalMutation CLINVAR
dbSNP: rs397508635
rs397508635
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.810 GeneticVariation CLINVAR
dbSNP: rs397508635
rs397508635
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.810 CausalMutation CLINVAR
dbSNP: rs75961395
rs75961395
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.810 CausalMutation CLINVAR
dbSNP: rs77902683
rs77902683
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.810 CausalMutation CLINVAR
dbSNP: rs79282516
rs79282516
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.810 CausalMutation CLINVAR