Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909047
rs121909047
0.710 GeneticVariation BEFREE As it is the case for F508del-CFTR (the most common CF mutant), low temperature treatment partially rescues a functional A561E-CFTR channel, suggesting that substitution of glutamic acid for alanine at position 561 does not completely abolish CFTR function. 14623323

2004

dbSNP: rs74551128
rs74551128
0.850 GeneticVariation BEFREE Because most commercial kits and laboratory-developed tests for CF carrier screening involve a short amplicon encompassing this mutation, this finding suggests that individuals with the c.1364C>A (p.A455E) mutation may require further investigation to avoid a false assignment of CF carrier status. 25956447

2016

dbSNP: rs77010898
rs77010898
0.780 GeneticVariation BEFREE Biosensor technology for real-time detection of the cystic fibrosis W1282X mutation in CFTR. 11438995

2001

dbSNP: rs74571530
rs74571530
0.020 GeneticVariation BEFREE Both patients with the complex allele F508C-S1251N are carrying delta F508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease. 1284535

1993

dbSNP: rs74503330
rs74503330
0.810 GeneticVariation BEFREE Both patients with the complex allele F508C-S1251N are carrying delta F508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease. 1284535

1993

dbSNP: rs397508310
rs397508310
0.710 GeneticVariation BEFREE CFTR H609R mutation in Ecuadorian patients with cystic fibrosis. 19457724

2009

dbSNP: rs74551128
rs74551128
0.850 GeneticVariation BEFREE CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype. 22390181

2013

dbSNP: rs74597325
rs74597325
0.770 GeneticVariation BEFREE CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. 7693946

1993

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical mechanism of the cystic fibrosis transmembrane conductance regulator potentiator ivacaftor in G551D-mediated cystic fibrosis. 24927234

2014

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical studies in patients with cystic fibrosis and G551D-CFTR showed that the group treated with ivacaftor had improved clinical outcomes. 25755212

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D leading to the approval of ivacaftor as a novel CF therapy [1]. 25698453

2016

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

2011

dbSNP: rs142540482
rs142540482
0.010 GeneticVariation BEFREE Coinheritance of p.R75Q or CF causing CFTR variants with SPINK1 variants significantly increases the risk of ICP. 20977904

2011

dbSNP: rs121909011
rs121909011
0.830 GeneticVariation BEFREE Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient. 8844211

1996

dbSNP: rs113993959
rs113993959
0.770 GeneticVariation BEFREE Consistent with reports that premature stop codon mutations (class I; e.g., G542X) can be read over by treatment with aminoglycoside antibiotics, exposure of CF cholangiocytes to gentamicin restored activation by cAMP of Cl(-) current and HCO3- secretion. 11786964

2002

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Curcumin cross-linked two CF mutant channels (Delta F508 and G551D) as well as a variety of deletion constructs that lack the major cytoplasmic domains. 19740743

2009

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Data on whether the phenotype of cystic fibrosis (CF) patients with compound heterozygocity for G551D (Gly551Asp) differs from patients with F508del (Phe508del) homozygous mutations is divergent. 19734299

2010

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. 16266832

2006

dbSNP: rs397508276
rs397508276
0.810 GeneticVariation BEFREE Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C). 9482579

1998

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D and G1349D to potentiators of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel. 16311240

2006

dbSNP: rs193922525
rs193922525
0.820 GeneticVariation BEFREE Differential sensitivity of the cystic fibrosis (CF)-associated mutants G551D and G1349D to potentiators of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel. 16311240

2006

dbSNP: rs77932196
rs77932196
0.860 GeneticVariation BEFREE Due to the mild features of the R347P mutation in the CF transmembrane conductance regulator (CFTR) gene and the heterogeneous clinical presentation of the mtDNA disease, the patient was not definitively diagnosed until age 21. 12400067

2003

dbSNP: rs74767530
rs74767530
0.710 GeneticVariation BEFREE Each subject was screened for the 18 CFTR mutations: DF508, DI507, R1162X, 2183AA>G, 21303K, 3849+10KbC>T, G542X, 1717-1G>A, R553X, Q552X, G85E, 711+5G>A, 3132delTG, 2789+5G>A, W1282X, R117H, R347P, R352Q), which cover 72% of cystic fibrosis chromosomes in the Italian population, plus the 5-thymidine allele in intron 8 of the CFTR gene (IVS85T). 12779072

2003

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of ivacaftor in patients with advanced cystic fibrosis and a G551D-CFTR mutation: Safety and efficacy in an expanded access program in the United States. 25682022

2016

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE Effect of ivacaftor treatment in patients with cystic fibrosis and the G551D-CFTR mutation: patient-reported outcomes in the STRIVE randomized, controlled trial. 26135562

2015