Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75389940
rs75389940
CFTR
0.830 GeneticVariation BEFREE Cystic fibrosis mutation I1234V in a Qatari lady. 12630722

2003
dbSNP: rs397508725
rs397508725
CFTR
0.010 GeneticVariation BEFREE Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508. 12820707

2003
dbSNP: rs1396707015
rs1396707015
CFTR
0.010 GeneticVariation BEFREE Cystic fibrosis: S158N (605G --> A) is a rare genetic variant found in coupling with deltaF508. 12820707

2003
dbSNP: rs397508288
rs397508288
CFTR
0.820 GeneticVariation BEFREE Cystic fibrosis presenting as metabolic alkalosis in a boy with the rare D579G mutation. 15463898

2004
dbSNP: rs79660178
rs79660178
CFTR
0.720 GeneticVariation BEFREE Cystic fibrosis at the Reunion Island (France): spectrum of mutations and genotype-phenotype for the Y122X mutation. 15463906

2004
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation. 15997883

2005
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Cystic Fibrosis is due to mutations in the CFTR gene.The missense mutation G551D (approx. 25712891

2015
dbSNP: rs77010898
rs77010898
CFTR
0.800 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691

1993
dbSNP: rs113993959
rs113993959
CFTR
0.800 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691

1993
dbSNP: rs74597325
rs74597325
CFTR
0.800 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691

1993
dbSNP: rs76649725
rs76649725
CFTR
0.710 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691

1993
dbSNP: rs121909010
rs121909010
CFTR
0.720 GeneticVariation BEFREE Cystic fibrosis (CF) patients bearing the premature translation termination mutation (nonsense mutation) W1282X present severe pulmonary and pancreatic disease, whereas patients carrying other nonsense mutations such as G542X, R553X, S1255X, R1162X, and W1316X show a severe pancreatic but mild pulmonary illness. 7504691

1993
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Cystic fibrosis mice carrying the missense mutation G551D replicate human genotype-phenotype correlations. 8605891

1996
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.880 GeneticVariation BEFREE Cystic fibrosis (CF) patients with the A455E mutation, in both the French Canadian and the Dutch population, share a common haplotype over distances of up to 25 cM. 8707298

1996
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation BEFREE N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe. 1372094

1992
dbSNP: rs397508638
rs397508638
CFTR
0.100 GeneticVariation BEFREE N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe. 1372094

1992
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation BEFREE N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. 1380943

1992
dbSNP: rs397508638
rs397508638
CFTR
0.100 GeneticVariation BEFREE N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes. 1380943

1992
dbSNP: rs142920240
rs142920240
CFTR
0.010 GeneticVariation BEFREE M348K in the CFTR gene is not a mutation causing CF, but a rare polymorphism. 15614862

2004
dbSNP: rs146521846
rs146521846
CFTR
0.710 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

2009
dbSNP: rs186089140
rs186089140
CFTR
0.010 GeneticVariation BEFREE S737F is a CFTR mutation associated to hypochloremic alkalosis in childhood, mild CF phenotype in teenage years and a residual function of CFTR protein. 29298718

2018
dbSNP: rs121908751
rs121908751
CFTR
0.820 GeneticVariation BEFREE E92X abolishes correctly spliced CFTR mRNA and leads to severe cystic fibrosis. 7512993

1994
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.880 GeneticVariation BEFREE A455E is a common mutation causing cystic fibrosis in the Netherlands. 7539891

1995
dbSNP: rs121908752
rs121908752
CFTR
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: rs79282516
rs79282516
CFTR ; CFTR-AS1
0.810 GeneticVariation BEFREE G480C was found on one additional CF chromosome and on none of 220 normal chromosomes, including 160 chromosomes from normal African-American individuals. 7757078

1995