Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75549581
rs75549581
CFTR
0.810 GeneticVariation BEFREE An interesting fact is that A559T was so far found mostly in CF patients of African-American origin. 10653145

2000
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.880 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
CFTR
0.830 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: rs213950
rs213950
CFTR ; CFTR-AS1
0.100 GeneticVariation BEFREE Analysis of intron 8 (TG)mTn and M470V polymorphic loci did not permit the characterization of the CFTR dysfunction underlying the CF phenotype in the patients for which no CFTR mutation was identified. 17020467

2006
dbSNP: rs121909047
rs121909047
CFTR
0.810 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

2003
dbSNP: rs1057516619
rs1057516619
CFTR
0.710 GeneticVariation BEFREE As this mutation is consistent with the clinical manifestations of CF and no other mutations were detected after scanning the gene sequence, we suggest that the CF phenotype is caused by compound heterozygosity for c.865A>T and c.3651_3652insAAAT. 26471113

2017
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.880 GeneticVariation BEFREE Because most commercial kits and laboratory-developed tests for CF c</span>arrier 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

2015
dbSNP: rs74571530
rs74571530
CFTR ; CFTR-AS1
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

1992
dbSNP: rs74503330
rs74503330
CFTR
0.820 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

1992
dbSNP: rs74767530
rs74767530
CFTR
0.710 GeneticVariation BEFREE By comparing the data obtained from polyps deriving from non-CF subjects and a CF patient homozygous for dF508 mutation, it is shown that no reduction of CF gene expression is evident in R1162X respiratory tissue. 7504691

1993
dbSNP: rs77010898
rs77010898
CFTR
0.800 GeneticVariation BEFREE By this procedure, it is possible to perform real-time monitoring of hybridization between target single stranded PCR products obtained by using as substrates DNA isolated from normal or heterozygous subjects, and homozygous W1282X CF samples and oligonucleotide probes, therefore enabling a one-step, non-radioactive protocol to perform diagnosis. 11438995

2001
dbSNP: rs121908803
rs121908803
CFTR
0.820 GeneticVariation BEFREE Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D). 25363320

2015
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Case report of 1 patient with long-standing chronic sinus disease and a new diagnosis of CF with a mild mutation (P205S) and a severe mutation (G551D). 25363320

2015
dbSNP: rs397508310
rs397508310
CFTR
0.710 GeneticVariation BEFREE CFTR H609R mutation in Ecuadorian patients with cystic fibrosis. 19457724

2009
dbSNP: rs397508462
rs397508462
CFTR
0.730 GeneticVariation BEFREE CFTR gene analysis in cystic fibrosis patients: detection of 91% of molecular defects and identification of the novel mutation D979V. 9401110

1997
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.880 GeneticVariation BEFREE CFTR molecular testing detected two mutations F508del and A455E corresponding to a cystic fibrosis genotype. 22390181

2012
dbSNP: rs74597325
rs74597325
CFTR
0.800 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
CFTR
0.900 GeneticVariation BEFREE Changes in Airway Microbiome and Inflammation with Ivacaftor Treatment in Patients with Cystic Fibrosis and the G551D Mutation. 31604026

2020
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Changes of CFTR functional measurements and clinical improvements in cystic fibrosis patients with non p.Gly551Asp gating mutations treated with ivacaftor. 27659740

2017
dbSNP: rs397508498
rs397508498
CFTR
0.710 GeneticVariation BEFREE Children carrying Unknown mutations 2215insG with D836Y, and T1036N had early and classical CF phenotype, while others carrying 1525-42G>A, L320V, L967S, R170H, and 296+28A>G had a benign clinical presentation, suggesting that these are non-CF causing. 27214204

2016
dbSNP: rs193922500
rs193922500
CFTR ; CFTR-AS1
0.710 GeneticVariation BEFREE Clinical evidence that V456A is a Cystic Fibrosis causing mutation in South Asians. 22395041

2012
dbSNP: rs75527207
rs75527207
CFTR
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

2015
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Clinical trials have shown an improvement in lung function, weight and CF pulmonary exacerbation in adults with CFTR-G551D</span> leading to the approval of ivacaftor as a novel CF therapy [1]. 25698453

2015
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation BEFREE Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject. 31776420

2019
dbSNP: rs397508638
rs397508638
CFTR
0.100 GeneticVariation BEFREE Co-potentiator efficacy was confirmed in primary human bronchial epithelial cell cultures generated from a N1303K homozygous CF subject. 31776420

2019