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: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)]. 17507277 2007
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience. 26003066 2015
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263 2007
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR [Role of deep seminal tract imaging in the diagnosis of unilateral agenesis of the vas deferens. Case report of a patient with CFTR gene mutation]. 17175965 2006
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. 27264265 2016
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis. 15121783 2004
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function. 11118444 2001
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Phenotype and genotype of two Taiwanese cystic fibrosis siblings and a survey of delta F508 in East Asians. 19166122 2008
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157 1997
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR A finger sweat chloride test for the detection of a high-risk group of chronic pancreatitis. 15084988 2004
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR COMMD1-mediated ubiquitination regulates CFTR trafficking. 21483833 2011
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. 15744523 2005
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR The phenotypic consequences of CFTR mutations. 12940920 2003
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. 10376575 1999
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? 24697796 2014
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. 16840743 2006
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. 20932301 2010
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR First study of CF mutations in the CFTR gene of Iranian patients: detection of DeltaF508, G542X, W1282X, A120T, R117H, and R347H mutations. 15537723 2004
dbSNP: rs397508462
rs397508462
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		C 0.700 GeneticVariation CLINVAR Severe cystic fibrosis associated with a deltaF508/R347H + D979A compound heterozygous genotype. 9550362 1998
dbSNP: rs121909043
rs121909043
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C4016791
Disease:
SWEAT CHLORIDE ELEVATION WITHOUT CYSTIC FIBROSIS 		G 0.700 CausalMutation CLINVAR
dbSNP: rs75527207
rs75527207
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0038587
Disease:
Substance Withdrawal Syndrome 		0.010 GeneticVariation BEFREE Ivacaftor withdrawal syndrome in cystic fibrosis patients with the G551D mutation. 29079142 2018
dbSNP: rs113993960
rs113993960
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0238093
Disease:
Stenosis of duodenum 		A 0.700 GeneticVariation CLINVAR
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