Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11971167
rs11971167
CFTR
0.730 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010
dbSNP: rs202179988
rs202179988
CFTR
0.020 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010
dbSNP: rs115545701
rs115545701
CFTR
0.710 GeneticVariation BEFREE [R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis. 20880762

2010
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: rs75541969
rs75541969
CFTR
0.730 GeneticVariation BEFREE We suggest that D1152H likely acts as a mild mutation with a dominant effect on the severe deletion of exon 18, considering that after 3 years of clinical examinations the child shows no classical signs and symptoms of CF. 22310382

2012
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE We report the results of an observational study investigating its effects in CF patients with non-G551D gating mutations. 29685811

2019
dbSNP: rs78194216
rs78194216
CFTR
0.810 GeneticVariation BEFREE We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. 9375855

1997
dbSNP: rs121908752
rs121908752
CFTR
0.820 GeneticVariation BEFREE We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). 8522333

1995
dbSNP: rs121908759
rs121908759
CFTR
0.710 GeneticVariation BEFREE We report molecular and clinical analyses in eleven unrelated patients with CF or CFTR-RD with compound heterozygosity for the p.Gly622Asp mutation. 25443471

2015
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE We randomly assigned 39 adults with cystic fibrosis and at least one G551D-CFTR allele to receive oral VX-770 every 12 hours at a dose of 25, 75, or 150 mg or placebo for 14 days (in part 1 of the study) or VX-770 every 12 hours at a dose of 150 or 250 mg or placebo for 28 days (in part 2 of the study). 21083385

2010
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE We present a non-consanguineous family of three siblings who presented with diabetes mellitus (DM), two of whom had genetically confirmed cystic fibrosis (CF), with one pancreatic-sufficient mutation in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene (ΔF508/R117H;IVS8-5T). 30269055

2019
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
0.100 GeneticVariation BEFREE We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations. 1545831

1992
dbSNP: rs397508462
rs397508462
CFTR
0.730 GeneticVariation BEFREE We investigated the structure-function relationships of a severe cystic fibrosis (CF)-associated double mutant (R347H-D979A) to evaluate the contribution of each mild mutation to the phenotype. 11118444

2001
dbSNP: rs77932196
rs77932196
CFTR
0.840 GeneticVariation BEFREE We investigated the structure-function relationships of a severe cystic fibrosis (CF)-associated double mutant (R347H-D979A) to evaluate the contribution of each mild mutation to the phenotype. 11118444

2001
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation BEFREE We investigate whether the (paternal) M348K mutation is a benign polymorphism or a disease-causing mutation in a patient clinically affected with CF, with the second (maternal) CFTR allele identified as N1303K. 15614862

2004
dbSNP: rs397508638
rs397508638
CFTR
0.100 GeneticVariation BEFREE We investigate whether the (paternal) M348K mutation is a benign polymorphism or a disease-causing mutation in a patient clinically affected with CF, with the second (maternal) CFTR allele identified as N1303K. 15614862

2004
dbSNP: rs77284892
rs77284892
CFTR
0.710 GeneticVariation BEFREE We here analyzed the read-through efficacy of PTC124 and G418 using human cystic fibrosis intestinal organoids (E60X/4015delATTT, E60X/F508del, G542X/F508del, R1162X/F508del, W1282X/F508del and F508del/F508del). 26255232

2016
dbSNP: rs193922525
rs193922525
CFTR
0.840 GeneticVariation BEFREE We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF. 28655774

2017
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation BEFREE We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF. 28655774

2017
dbSNP: rs397508638
rs397508638
CFTR
0.100 GeneticVariation BEFREE We have used this stabilized background to study the effects of NBD2 mutations identified in cystic fibrosis (CF) patients, demonstrating that mutants such as N1303K and G1349D are characterized by lower stability, as shown previously for some NBD1 mutations, suggesting a potential role for NBD2 instability in the pathology of CF. 28655774

2017
dbSNP: rs74597325
rs74597325
CFTR
0.800 GeneticVariation BEFREE We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. 7514569

1994
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE We generated G551D CF mice transgenically expressing the human CFTR gene in two tissue compartments previously demonstrated to mediate a CFTR-dependent inflammatory response: lung epithelium and alveolar macrophages. 11978765

2002
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE We did a 24-week, placebo-controlled, double-blind, randomised clinical trial, which enrolled 69 patients with cystic fibrosis aged 6 years and older with Arg117His-CFTR and percentage of predicted forced expiratory volume in 1 s (% predicted FEV1) of at least 40. 26070913

2015
dbSNP: rs35516286
rs35516286
CFTR
0.840 GeneticVariation BEFREE We developed a 51-mutation extended cystic fibrosis (CF) panel that incorporates the 25 previously recommended CFTR mutations, plus 26 additional mutations including 3199del6, which was associated with I148T. 15371908

2005
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE We detected a new [R117L; L997F] CFTR complex allele in the four subjects with the highest sweat test values and CF. 20706124

2010