Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75961395
rs75961395
CFTR
0.810 GeneticVariation BEFREE To study the severity of mutation G85E, located in the first membrane spanning domain of the CFTR gene, we studied the clinical features of 13 Spanish patients with cystic fibrosis (CF) carrying this mutation. 8933333

1996
dbSNP: rs74597325
rs74597325
CFTR
0.800 GeneticVariation BEFREE A cystic fibrosis patient homozygous for the nonsense mutation R553X. 1682496

1991
dbSNP: rs113993959
rs113993959
CFTR
0.800 GeneticVariation BEFREE A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. 1757966

1991
dbSNP: rs113993959
rs113993959
CFTR
0.800 GeneticVariation BEFREE A G542X cystic fibrosis mouse model for examining nonsense mutation directed therapies. 29924856

2018
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with CF and the G551D mutation.N. Engl.J.Med., 2011.365: 1663-1672.)]. 22914736

2012
dbSNP: rs397508316
rs397508316
CFTR
0.810 GeneticVariation BEFREE A missense mutation, S1235R, was originally reported in a CF patient with a second mutation (G628R) on the same chromosome. 11186891

2000
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: rs386134230
rs386134230
CFTR
0.710 GeneticVariation BEFREE A novel mutation of CFTR, c.753_754delAG, was found in a Chinese CF child. c.2909G>A is the most common mutation among Chinese CF patients. 31423445

2019
dbSNP: rs75541969
rs75541969
CFTR
0.730 GeneticVariation BEFREE A retrospective review of clinical, genetic and biochemical data was performed from individuals homozygous or compound heterozygous for the D1152H mutation followed in 12 Italian cystic fibrosis (CF) centers. 25583415

2015
dbSNP: rs121909005
rs121909005
CFTR
0.820 GeneticVariation BEFREE A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. 26547591

2016
dbSNP: rs121908757
rs121908757
CFTR
0.720 GeneticVariation BEFREE A standard OGTT was performed before and after 16weeks of treatment with ivacaftor in 2 sibling patients with CF carrying the S549R gating mutation. 26547591

2016
dbSNP: rs121908755
rs121908755
CFTR
0.830 GeneticVariation BEFREE A strategy for mutation screening for CF in India must involve testing for p.F508del followed by c.1161delC, c.3849+10 kb C>T and p.S549N. 17716958

2008
dbSNP: rs121908755
rs121908755
CFTR
0.830 GeneticVariation BEFREE Absence of cystic fibrosis mutations in a large Asian population sample and occurrence of a homozygous S549N mutation in an inbred Pakistani family. 7680378

1993
dbSNP: rs213950
rs213950
CFTR ; CFTR-AS1
0.100 GeneticVariation BEFREE Absolute linkage between delta F508 and the KM.19-GATT-TUB9-M470V-T854T haplotype (2-2-1-1-1) predicts a relatively recent appearance of delta F508 in Indian CF patients. 18782298

2009
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Additive improvement in G551D CFTR-mediated Cl<sup>-</sup> secretion suggests that resveratrol could enhance ivacaftor therapy in these patients and improve CF-related rhinosinusitis. 30152192

2019
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE After several successful clinical trials the potentiator, ivacaftor, is now licenced for use in adults and children (>six years), with CF bearing the class III G551D mutation and FDA licence was recently expanded to include 8 additional class III mutations. 24932877

2015
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Alterations in blood leukocytes of G551D-bearing cystic fibrosis patients undergoing treatment with ivacaftor. 25769931

2016
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
0.020 GeneticVariation BEFREE Although frequencies of F508C did not vary significantly between 850 individuals undergoing cystic fibrosis</span> carrier screening and those submitted for diagnostic testing on suspicion of cystic fibrosis, the frequency of F508C in the congenital bilateral absence of the vas deferens population was significantly higher than expected (chi2 = 6.95, corrected P = 0.0486). 19092444

2008
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Although ivacaftor (VX-770) alone and ivacaftor in combination with lumacaftor (VX-809) improve lung function in CF patients with the Gly551Asp and del508Phe mutations, respectively, the effects of these drugs on the function of human CF macrophages are unknown. 29146575

2018
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Although ivacaftor is currently only licensed for use in approximately 5% of the CF population (those who have at least one Gly551Asp mutation), the developmental pathway established by ivacaftor paves the way for other CFTR modulators that may benefit many more patients. 24039402

2013
dbSNP: rs397508462
rs397508462
CFTR
0.730 GeneticVariation BEFREE Although the D979A mutant is very rare, this mutation combination seemed to be responsible for severe CF phenotypes. 9550362

1998
dbSNP: rs368505753
rs368505753
CFTR
0.820 GeneticVariation BEFREE Although the decline of lung function did not differ from ΔF508 homozygotes, the fact that a greater proportion of P67L heterozygotes live to an older age suggests that lung function is not the primary factor determining CF progression for P67L heterozygote patients. 28392015

2017
dbSNP: rs34911792
rs34911792
CFTR
0.720 GeneticVariation BEFREE An exhaustive CFTR gene analysis identified a second mutation in cis of p.Ser1235Arg in all CF patients and in 81.8% CBAVD patients. 20717170

2011
dbSNP: rs74597325
rs74597325
CFTR
0.800 GeneticVariation BEFREE An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine. 19176844

2009
dbSNP: rs121909044
rs121909044
CFTR
0.710 GeneticVariation BEFREE An individual with the CFTR genotype R553X/F508del-R553Q showed the typical symptoms and electrophysiological anomalies of cystic fibrosis in the airways and intestine. 19176844

2009