Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
0.890 GeneticVariation BEFREE The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K. 1718974

1991

dbSNP: rs121908755
rs121908755
0.810 GeneticVariation BEFREE The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K. 1718974

1991

dbSNP: rs1800076
rs1800076
0.030 GeneticVariation BEFREE There are two other sequence variations in the CFTR gene; one of them (129G----C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region. 1710599

1991

dbSNP: rs75527207
rs75527207
0.900 GeneticVariation BEFREE The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene. 1376182

1992

dbSNP: rs74597325
rs74597325
0.770 GeneticVariation BEFREE The missense mutation Arg553----Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry. 1376182

1992

dbSNP: rs121909010
rs121909010
0.710 GeneticVariation BEFREE Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis. 1721624

1992

dbSNP: rs397508203
rs397508203
0.040 GeneticVariation BEFREE In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21. 1371263

1992

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993

dbSNP: rs77932196
rs77932196
0.860 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993

dbSNP: rs121909011
rs121909011
0.830 GeneticVariation BEFREE Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis. 7680769

1993

dbSNP: rs121908751
rs121908751
0.820 GeneticVariation BEFREE Haplotype 16-46-13 is strongly associated with CF mutations E92K and 3601-111G-->C. 7689896

1993

dbSNP: rs36210737
rs36210737
0.820 GeneticVariation BEFREE Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population. 7680525

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: rs113993959
rs113993959
0.770 GeneticVariation BEFREE Two adult sisters affected by cystic fibrosis were both shown to carry two different alterations within exon 11 of the CFTR gene, the nonsense mutation G542X and the missense mutation G551D. 7681035

1993

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: 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: 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: rs74597325
rs74597325
0.770 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
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
0.710 GeneticVariation BEFREE Identification of three novel mutations (457 TAT-->G, D192G, Q685X) in the Slovenian CF patients. 7516305

1994

dbSNP: rs78655421
rs78655421
0.900 GeneticVariation BEFREE Except for delta F508, the most frequent mutations (R117H, R1070W) were not observed in the CF group (109 patients) studied in our laboratory. 7539342

1995

dbSNP: rs78655421
rs78655421
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
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: rs121908758
rs121908758
0.820 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