Gene: CFTR ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs186089140
rs186089140
CFTR
0.010 GeneticVariation BEFREE S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein. 29298718

2018
dbSNP: rs397508731
rs397508731
CFTR
0.010 GeneticVariation BEFREE Ten patients were studied, seven had five pathogenic mutations without previous description in Brazil (Q1100P, Y109C, A107P, E1409K and K162E), one of which has not yet been reported in patients with CF (A107P). 30232781

2018
dbSNP: rs75053309
rs75053309
CFTR
0.010 GeneticVariation BEFREE In our cohort, the Q359K/T360K mutation resulted in a severe CF phenotype, although with residual early CFTR function. 30033373

2018
dbSNP: rs1800080
rs1800080
CFTR
0.010 GeneticVariation BEFREE Whereas all have been reported in the dbSNP database, only p.Ala334Thr, p.Val573Ile, and p.Thr663Ala in SCNN1A, p.Gly442Val in SCNN1B and p.Gly183Ser in SCNN1G were previously reported in ENaC genetic studies of CF or CF-like patients. 25900089

2016
dbSNP: rs397508786
rs397508786
CFTR
0.010 GeneticVariation BEFREE The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies. 26911355

2016
dbSNP: rs397508198
rs397508198
CFTR ; CFTR-AS1
0.010 GeneticVariation BEFREE The c.[T(5); 1392G>T] complex allele contributes to the CF phenotype by affecting splicing and inducing a severe misprocessing defect. 25403292

2015
dbSNP: rs758675549
rs758675549
CFTR
0.010 GeneticVariation BEFREE We analyzed CFTR mutations, polymorphisms (GSTM1 and GSTT1 deletions, GSTP1 + 313A > G, GCLC-129C > T, and GCLC-3506A > G) in modifier genes and CF clinical severity as assessed by 28 clinical and laboratory variables. 24593045

2014
dbSNP: rs17140229
rs17140229
CFTR
0.010 GeneticVariation BEFREE Repetitive MAS were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00003) and cystic fibrosis transmembrane conductance receptor-rs17140229 in the pooled analysis (p = 0.00543). 23614351

2013
dbSNP: rs1800100
rs1800100
CFTR
0.010 GeneticVariation BEFREE Overall, the results consistently show the contribution of p.Gly149Arg to the CF phenotype, and suggest that p.[Arg668Cys], p.[Gly576Ala;Arg668Cys], and p.[Asp443Tyr;Gly576Ala;Arg668Cys] are associated with CFTR-related disorders. 22678879

2012
dbSNP: rs144745159
rs144745159
CFTR
0.010 GeneticVariation BEFREE The co-translational rescue of ΔF508 NBD1 misfolding in CFTR by I539T advocates this domain as the most important drug target for cystic fibrosis. 21152102

2010
dbSNP: rs397508185
rs397508185
CFTR ; CFTR-AS1
0.010 GeneticVariation BEFREE The aim of the study was to investigate whether the p.S357N variant in CLCA1, the human orthologue of Clca3, acts as a modifier gene in a cohort of 682 European patients with cystic fibrosis (CF)-99 patients with meconium ileus. 20179644

2010
dbSNP: rs397508188
rs397508188
CFTR ; CFTR-AS1
0.010 GeneticVariation BEFREE The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis. 20052366

2010
dbSNP: rs191456345
rs191456345
CFTR
0.010 GeneticVariation BEFREE Herein we have assessed the phenotype associated with the p.Arg258Gly (R258G) mutation, checking our cohorts of patients (CF and CFTR-RD) and control subjects (CF carriers, fertile males, and general population). 19810821

2009
dbSNP: rs397508599
rs397508599
CFTR
0.010 GeneticVariation BEFREE A novel G1244R disease causing mutation, leading to a CF phenotype with pancreatic sufficiency but early onset of pulmonary involvement, was detected in the subject with an uncertain diagnosis. 16635477

2006
dbSNP: rs142920240
rs142920240
CFTR
0.010 GeneticVariation BEFREE M348K in the CFTR gene is not a mutation causing CF, but a rare polymorphism. 15614862

2004
dbSNP: rs1396707015
rs1396707015
CFTR
0.010 GeneticVariation BEFREE Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508. 12820707

2003
dbSNP: rs397508323
rs397508323
CFTR
0.010 GeneticVariation BEFREE In this study, we have investigated the consequence of two cystic fibrosis (CF) disease-causing mutations, E656X and 2108delA, on the function of a putative exonic splicing enhancer (ESE) in exon 13 of the CFTR gene. 12913074

2003
dbSNP: rs397508725
rs397508725
CFTR
0.010 GeneticVariation BEFREE Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508. 12820707

2003
dbSNP: rs397508369
rs397508369
CFTR
0.010 GeneticVariation BEFREE Four patients (13.8%) were heterozygous for a CFTR mutation, including a new putative severe CF-causing mutation (N782K), and three mild defects (L997F, D1270N, and S1235R). 12127423

2002
dbSNP: rs397508527
rs397508527
CFTR
0.010 GeneticVariation BEFREE Novel Cystic Fibrosis mutation L1093P: functional analysis and possible Native American origin. 10649505

2000
dbSNP: rs200901072
rs200901072
CFTR
0.010 GeneticVariation BEFREE Moreover, three rare CFTR gene DNA polymorphisms (G576A, R668C, and 2736 A-->G), not deemed to be the cause of CF, were found in two patients, one of which was a compound heterozygote with R1066C. 7543317

1995
dbSNP: rs141033578
rs141033578
CFTR
0.020 GeneticVariation BEFREE Finally, compounds heterozygous for the c.[1210-34TG[12];1210-12T[5];2930C>T] and a class I-II mutation had mild CF or CFTR-RD (gating activity: 18.5-19.0%). 27738188

2017
dbSNP: rs141033578
rs141033578
CFTR
0.020 GeneticVariation BEFREE Impaired CFTR function in mild cystic fibrosis associated with the S977F/T5TG12complex allele in trans with F508del mutation. 23361109

2013
dbSNP: rs1800076
rs1800076
CFTR
0.020 GeneticVariation BEFREE Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the risk of ICP. 20977904

2011
dbSNP: rs202179988
rs202179988
CFTR
0.020 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010