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: rs984281283
rs984281283
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 GeneticVariation CLINVAR The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: Implications for Molecular Diagnostic Testing. 26708955 2016
dbSNP: rs975722
rs975722
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1956346
Disease:
Coronary Artery Disease 		A 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: rs886042527
rs886042527
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		T 0.700 CausalMutation CLINVAR
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678 2010
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952 2001
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 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: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130 2014
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152 2005
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445 2009
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616 2007
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883 2011
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884 2012
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352 2003
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539 2010
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. 9305991 1997
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene. 23381846 2013
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289 2014
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870 2013
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		A 0.800 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578 2008
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758 2015
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0010674
Disease:
Cystic Fibrosis 		0.800 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: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0238339
Disease:
Hereditary pancreatitis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80282562
rs80282562
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C2749757
Disease:
BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs80224560
rs80224560
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0238339
Disease:
Hereditary pancreatitis 		A 0.700 CausalMutation CLINVAR