Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs191456345
rs191456345
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
G 0.700 GeneticVariation CLINVAR What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 28830496

2017

dbSNP: rs193922511
rs193922511
G 0.700 CausalMutation CLINVAR What can the CF registry tell us about rare CFTR-mutations? A Belgian study. 28830496

2017

dbSNP: rs191456345
rs191456345
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: rs193922511
rs193922511
G 0.700 CausalMutation CLINVAR Extensive molecular analysis suggested the strong genetic heterogeneity of idiopathic chronic pancreatitis. 27264265

2016

dbSNP: rs193922511
rs193922511
G 0.700 CausalMutation CLINVAR Diagnosing cystic fibrosis in newborn screening in Poland - 15 years of experience. 26003066

2015

dbSNP: rs191456345
rs191456345
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: rs397508462
rs397508462
C 0.700 GeneticVariation CLINVAR Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? 24697796

2014

dbSNP: rs191456345
rs191456345
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
G 0.700 GeneticVariation CLINVAR Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein. 23104983

2013

dbSNP: rs191456345
rs191456345
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: rs397508462
rs397508462
C 0.700 GeneticVariation CLINVAR COMMD1-mediated ubiquitination regulates CFTR trafficking. 21483833

2011

dbSNP: rs191456345
rs191456345
G 0.700 GeneticVariation CLINVAR Independent contribution of common CFTR variants to chronic pancreatitis. 19812525

2010

dbSNP: rs193922511
rs193922511
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: rs397508462
rs397508462
C 0.700 GeneticVariation CLINVAR Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients. 20932301

2010

dbSNP: rs191456345
rs191456345
G 0.700 GeneticVariation CLINVAR The p.Arg258Gly mutation in intracellular loop 2 of CFTR is associated with CFTR-related disorders. 19810821

2009

dbSNP: rs193922511
rs193922511
G 0.700 CausalMutation CLINVAR Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations. 18685558

2009

dbSNP: rs397508462
rs397508462
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: rs191456345
rs191456345
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: rs193922511
rs193922511
G 0.700 CausalMutation CLINVAR [Unilateral partial deferential agenesia and CFTR gene composite heterozygoty (deltaF508/V938G)]. 17507277

2007

dbSNP: rs193922511
rs193922511
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: rs191456345
rs191456345
G 0.700 GeneticVariation CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493

2006

dbSNP: rs193922511
rs193922511
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: rs397508462
rs397508462
C 0.700 GeneticVariation CLINVAR Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. 16840743

2006

dbSNP: rs397508462
rs397508462
C 0.700 GeneticVariation CLINVAR A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype. 15744523

2005