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: 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: rs7805063
rs7805063
Entrez Id: 1080;136991
Gene Symbol: CFTR;ASZ1
CFTR;ASZ1
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs113857788
rs113857788
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation 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: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Comparative ex vivo, in vitro and in silico analyses of a CFTR splicing mutation: Importance of functional studies to establish disease liability of mutations. 25735457 2016
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Correction of CFTR function in nasal epithelial cells from cystic fibrosis patients predicts improvement of respiratory function by CFTR modulators. 28785019 2017
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962 1995
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia. 10376575 1999
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Mechanisms of CFTR functional variants that impair regulated bicarbonate permeation and increase risk for pancreatitis but not for cystic fibrosis. 25033378 2014
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 17413420 2007
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Different CFTR mutational spectrum in alcoholic and idiopathic chronic pancreatitis? 15097853 2004
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Independent contribution of common CFTR variants to chronic pancreatitis. 19812525 2010
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. 19810821 2009
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. 7739684 1995
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR. 23687349 2013
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein. 23104983 2013
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 28830496 2017
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493 2006
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. 22483971 2012
dbSNP: rs191456345
rs191456345
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. 9239681 1996
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR CFTR gene mutations and male infertility. 10755189 2000
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene? 20059485 2010
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 28830496 2017
dbSNP: rs193922511
rs193922511
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C1865433
Disease:
VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF 		G 0.700 CausalMutation CLINVAR Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. 18685558 2009