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: rs114167782
rs114167782
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C1519383
Disease:
Smoking Behaviors 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs114167782
rs114167782
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0037369
Disease:
Smoking 		0.700 GeneticVariation GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
dbSNP: rs39312
rs39312
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0205682
Disease:
Waist-Hip Ratio 		C 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs39312
rs39312
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0205682
Disease:
Waist-Hip Ratio 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs3779547
rs3779547
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0004352
Disease:
Autistic Disorder 		0.010 GeneticVariation BEFREE In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism. 19895723 2010
dbSNP: rs4727847
rs4727847
Entrez Id: 1080;7472;105375467
Gene Symbol: CFTR;WNT2;LOC105375467
CFTR;WNT2;LOC105375467
CUI: C0004352
Disease:
Autistic Disorder 		0.010 GeneticVariation BEFREE In the case-control study, three SNPs (rs3779547, rs4727847 and rs3729629), two major individual haplotypes (A-T-C and G-G-G, consisting of rs3779547, rs4727847, and rs3729629), and global probability values of the haplotype distributions in the same region (global p=0.0091) showed significant associations with autism. 19895723 2010
dbSNP: rs39315
rs39315
Entrez Id: 1080;7472
Gene Symbol: CFTR;WNT2
CFTR;WNT2
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE The AXIN1 rs1805105 T>C SNP was associated with small tumor size and early tumor stage and the WNT2 rs39315 G allele was associated with advanced tumor stage in HCC. 26968103 2016
dbSNP: rs39315
rs39315
Entrez Id: 1080;7472
Gene Symbol: CFTR;WNT2
CFTR;WNT2
CUI: C2239176
Disease:
Liver carcinoma 		0.010 GeneticVariation BEFREE The AXIN1 rs1805105 T>C SNP was associated with small tumor size and early tumor stage and the WNT2 rs39315 G allele was associated with advanced tumor stage in HCC. 26968103 2016
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. 7683628 1993
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693 1996
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.880 CausalMutation CLINVAR Two cystic fibrosis transmembrane conductance regulator mutations have different effects on both pulmonary phenotype and regulation of outwardly rectified chloride currents. 7542778 1995
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.880 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731 2003
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518 1993
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. 8956039 1996
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. 19914443 2009
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445 2009
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation BEFREE Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM. 8707298 1996
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682 2002
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678 2010
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289 2014
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182 2005
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		0.880 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117 2010
dbSNP: rs74551128
rs74551128
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.880 CausalMutation CLINVAR Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. 2236053 1990