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: rs10249651
rs10249651
Entrez Id: 1080;136991
Gene Symbol: CFTR;ASZ1
CFTR;ASZ1
CUI: C1956346
Disease:
Coronary Artery Disease
T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs10487372
rs10487372
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.010 GeneticVariation BEFREE Individuals with 'deletion-T' (DeltaF508/rs10487372) haplotype had a 68% reduced risk for lung cancer compared to common haplotype 'no-deletion-C' (OR=0.32; 95% CI=0.15-0.68; p=0.01). 20116881 2010
dbSNP: rs10487372
rs10487372
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.010 GeneticVariation BEFREE Individuals with 'deletion-T' (DeltaF508/rs10487372) haplotype had a 68% reduced risk for lung cancer compared to common haplotype 'no-deletion-C' (OR=0.32; 95% CI=0.15-0.68; p=0.01). 20116881 2010
dbSNP: rs10487372
rs10487372
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0684249
Disease:
Carcinoma of lung
0.010 GeneticVariation BEFREE Individuals with 'deletion-T' (DeltaF508/rs10487372) haplotype had a 68% reduced risk for lung cancer compared to common haplotype 'no-deletion-C' (OR=0.32; 95% CI=0.15-0.68; p=0.01). 20116881 2010
dbSNP: rs1057516216
rs1057516216
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516232
rs1057516232
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.700 GeneticVariation CLINVAR A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. 25910067 2015
dbSNP: rs1057516236
rs1057516236
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516387
rs1057516387
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
ACT 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516415
rs1057516415
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.700 GeneticVariation 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
dbSNP: rs1057516457
rs1057516457
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516609
rs1057516609
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516619
rs1057516619
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
T 0.710 GeneticVariation CLINVAR As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. 26471113 2017
dbSNP: rs1057516619
rs1057516619
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
0.710 GeneticVariation BEFREE As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. 26471113 2017
dbSNP: rs1057516646
rs1057516646
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516970
rs1057516970
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517032
rs1057517032
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 CausalMutation CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505 2013
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 GeneticVariation CLINVAR Assessment of epithelial sodium channel variants in nonwhite cystic fibrosis patients with non-diagnostic CFTR genotypes. 25900089 2016
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 CausalMutation CLINVAR CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent. 16963320 2007
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 GeneticVariation CLINVAR Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California. 23810505 2013
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 CausalMutation CLINVAR Complete screening of the CFTR gene in Argentine cystic fibrosis patients. 12000363 2002
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 CausalMutation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365 2000
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 GeneticVariation CLINVAR Identification and frequencies of cystic fibrosis mutations in central Argentina. 26500004 2016
dbSNP: rs1057517068
rs1057517068
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis
AT 0.700 GeneticVariation CLINVAR Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations. 10794365 2000