Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909021
rs121909021
0.710 GeneticVariation BEFREE 3 times greater than in the general population (3.9%; p < 10(-6)), Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. 11168024

2001

dbSNP: rs143486492
rs143486492
0.710 GeneticVariation BEFREE 3 times greater than in the general population (3.9%; p < 10(-6)), Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. 11168024

2001

dbSNP: rs77932196
rs77932196
0.860 GeneticVariation BEFREE 3 times greater than in the general population (3.9%; p < 10(-6)), Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. 11168024

2001

dbSNP: rs762224063
rs762224063
0.010 GeneticVariation BEFREE 3 times greater than in the general population (3.9%; p < 10(-6)), Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. 11168024

2001

dbSNP: rs74597325
rs74597325
0.770 GeneticVariation BEFREE 3 times greater than in the general population (3.9%; p < 10(-6)), Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. 11168024

2001

dbSNP: rs79660178
rs79660178
0.710 GeneticVariation BEFREE Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation. 15463906

2005

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation. 15997883

2005

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx. 25712891

2016

dbSNP: rs146521846
rs146521846
0.010 GeneticVariation BEFREE S1118F-CFTR shows impaired maturation and an individual with S1118F-CFTR paired with DeltaF508-CFTR exhibits atypical CF symptoms with intermediate sweat chloride level and meconium ileus despite documented pancreatic sufficiency. 19774621

2010

dbSNP: rs34911792
rs34911792
0.710 GeneticVariation BEFREE p.Ser1235Arg should no longer be considered as a cystic fibrosis mutation: results from a large collaborative study. 20717170

2011

dbSNP: rs74551128
rs74551128
0.850 GeneticVariation BEFREE A455E is a common mutation causing cystic fibrosis in the Netherlands. 7539891

1995

dbSNP: rs121908752
rs121908752
0.820 GeneticVariation BEFREE L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis. 7545869

1995

dbSNP: rs75961395
rs75961395
0.810 GeneticVariation BEFREE G85E accounts for about 1% of Spanish CF alleles. 8933333

1997

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. 22047557

2011

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

2013

dbSNP: rs75541969
rs75541969
0.820 GeneticVariation BEFREE A large deletion causes apparent homozygosity for the D1152H mutation in the cystic fibrosis transmembrane regulator (CFTR) gene. 22310382

2012

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE A little CFTR goes a long way: CFTR-dependent sweat secretion from G551D and R117H-5T cystic fibrosis subjects taking ivacaftor. 24520399

2014

dbSNP: rs121908751
rs121908751
0.820 GeneticVariation BEFREE A novel exon in the cystic fibrosis transmembrane conductance regulator gene activated by the nonsense mutation E92X in airway epithelial cells of patients with cystic fibrosis. 7512993

1994

dbSNP: rs75527207
rs75527207
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: rs74571530
rs74571530
0.020 GeneticVariation BEFREE Although frequencies of F508C did not vary significantly between 850 individuals undergoing cystic fibrosis 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

2009

dbSNP: rs75527207
rs75527207
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

2014

dbSNP: rs74597325
rs74597325
0.770 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
0.810 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: rs74551128
rs74551128
0.850 GeneticVariation BEFREE Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa. 10764788

2000

dbSNP: rs121908758
rs121908758
0.820 GeneticVariation BEFREE Analysis of cystic fibrosis-associated missense mutations in the first nucleotide binding domain (NBD1), including A455E, S549R, Y563N, and P574H, revealed reduced levels of mature CFTR with elevated levels of carboxyl-terminal polypeptide fragments of 105 and 90 kDa. 10764788

2000