Gene: CFTR ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs121908751
rs121908751
CFTR
0.820 GeneticVariation BEFREE Haplotype 16-46-13 is strongly associated with CF mutations E92K and 3601-111G-->C. 7689896

1993
dbSNP: rs36210737
rs36210737
CFTR
0.820 GeneticVariation BEFREE The crossover was located between exons 14a and 17b, an interval of approximately 15 kbp. delta F508 and M1101K accounted for all of the CF mutations in patients from 16 CF families representing the three subdivisions of the Hutterite population. 7680525

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 CFTR transcripts are undetectable in lymphocytes and respiratory epithelial cells of a CF patient homozygous for the nonsense mutation R553X. 7693946

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: 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: 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: 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: 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: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE R1162X and R334W, mutations identified in Spain and Italy, each occurred on 1.6% (2/129) of CF chromosomes. 7509564

1994
dbSNP: rs121908751
rs121908751
CFTR
0.820 GeneticVariation BEFREE E92X abolishes correctly spliced CFTR mRNA and leads to severe cystic fibrosis. 7512993

1994
dbSNP: rs113993959
rs113993959
CFTR
0.800 GeneticVariation BEFREE The G542X mutation was found on 5% (7/129) of CF chromosomes. 7509564

1994
dbSNP: rs74597325
rs74597325
CFTR
0.800 GeneticVariation BEFREE We have studied the effects of the stop mutation R553X in exon 11 of the CFTR gene by analyzing mRNA extracted from nasal epithelial cells harvested from patients with cystic fibrosis. 7514569

1994
dbSNP: rs397508195
rs397508195
CFTR ; CFTR-AS1
0.710 GeneticVariation BEFREE The missense mutation V456F adjacent to Walker motif A was present in a pancreas-sufficient CF patient. 7505767

1994
dbSNP: rs397508336
rs397508336
CFTR
0.710 GeneticVariation BEFREE Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients. 7516305

1994
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation BEFREE Interestingly, three CF samples for which one mutant allele remained undefined (deltaoff8/unknown or G551D/unknown) demonstrated no statistical difference in the level of sulfation as compared with matched non-CF controls (n= 3). 8675672

1995
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation BEFREE Only three CBAVD patients were found with more than one CFTR mutation (delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T), highlighting L206W, R74W/D1270N, and R117H as benign CF mutations. 7532150

1995
dbSNP: rs74551128
rs74551128
CFTR ; CFTR-AS1
0.880 GeneticVariation BEFREE A455E is a common mutation causing cystic fibrosis in the Netherlands. 7539891

1995
dbSNP: rs121909011
rs121909011
CFTR
0.850 GeneticVariation BEFREE The data provided here for mutation R334W demonstrate that this mutation is responsible for a less severe form of CF than delta F508. 7868128

1995
dbSNP: rs121908758
rs121908758
CFTR
0.830 GeneticVariation BEFREE This increased intrinsic activity of individual P574H CFTR-Cl- channels compensates for the lower number of P574H CFTR-Cl- channels reaching the cell surface, and probably explains the milder form of CF associated with the P574H mutation. 7540133

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: rs121908752
rs121908752
CFTR
0.820 GeneticVariation BEFREE We report molecular and clinical analyses in four unrelated patients with cystic fibrosis (CF) with compound heterozygosity for the L206W mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). 8522333

1995
dbSNP: rs80055610
rs80055610
CFTR
0.820 GeneticVariation BEFREE The effects of the mild cystic fibrosis (CF) mutation P574H were analysed and compared with those of three severe ones (delta I507, delta F508 and R560T). 7540133

1995
dbSNP: rs397508531
rs397508531
CFTR
0.810 GeneticVariation BEFREE These mutations, representing three different categories--missense (R31L, W1098R), nonsense (E1104X), and frameshift (441delA, 681delC, 1461ins4)--are located in exons 2, 4, 5, 9, and 17b of the gene and presumed to cause cystic fibrosis (CF) in patients. 7537150

1995