Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993959
rs113993959
0.770 GeneticVariation BEFREE Using a mouse model for cystic fibrosis (CF), we show that s.c. injection or oral administration of PTC124 to Cftr-/- mice expressing a human CFTR-G542X transgene suppressed the G542X nonsense mutation and restored a significant amount of human (h)CFTR protein and function. 18272502

2008

dbSNP: rs113993959
rs113993959
0.770 GeneticVariation BEFREE The three most frequent cystic fibrosis (CF)-causing CFTR mutations in the Dutch population (deltaF508, A455E, and G542X) and the three most frequent CFTR mutations potentially causing congenital bilateral absence of the vas deferens (CBAVD) in the Dutch population (deltaF508, R117H, and IVS8-5T) were analyzed. 9591500

1998

dbSNP: rs113993959
rs113993959
0.770 GeneticVariation BEFREE To evaluate five common cystic fibrosis trans-membrane conductance regulator (CFTR) mutations (ΔF508, G542X, R117H, W1282X and N1303K) in the Iranian infertile men with noncongenital absence of vas deferens (CAVD) obstructive azoospermia. 21976147

2016

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: 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: rs113993959
rs113993959
0.770 GeneticVariation BEFREE Poly-L-aspartic acid enhances and prolongs gentamicin-mediated suppression of the CFTR-G542X mutation in a cystic fibrosis mouse model. 19136563

2009

dbSNP: rs113993959
rs113993959
0.770 GeneticVariation BEFREE Twelve different CFTR mutations accounted for 90% (123/136) of CF alleles, including F508del (47.06%), E1104X (16.18%), N1303K (6.62%), 711 + 1T > G (5.88%), W1282X (4.41%), G542X (3.67%), R1158X (1.47%), 4016insT (0.74%), and R785X (0.74%). 19715466

2010

dbSNP: rs11971167
rs11971167
0.710 GeneticVariation BEFREE Nine variants (CFTR R74Q, R75Q, R117H, R170H, L967S, L997F, D1152H, S1235R, and D1270N) not associated with typical CF were associated with pancreatitis (OR 1.5, p = 0.002). 25033378

2015

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

1993

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: rs121908752
rs121908752
0.820 GeneticVariation BEFREE Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1996

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: rs121908757
rs121908757
0.710 GeneticVariation BEFREE Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G). 10401194

1999

dbSNP: rs121908758
rs121908758
0.820 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
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

dbSNP: rs121908759
rs121908759
0.710 GeneticVariation BEFREE On the basis of the clinical features presented by the eleven patients, we postulate that the p.Gly622Asp might be associated with a wide spectrum of phenotypes including classical cystic fibrosis. 25443471

2016

dbSNP: rs121908761
rs121908761
0.710 GeneticVariation BEFREE Three patients (15.0%) had a cystic fibrosis (CF) mutation on one chromosome (deltaF508, I336K, Y1092X), which is known to cause phenotypical severe cystic fibrosis. 10950058

2000

dbSNP: rs121908803
rs121908803
0.810 GeneticVariation BEFREE These residues are conserved across species, and mutations of two (P99L and P205S) are associated with cystic fibrosis. 8663008

1996

dbSNP: rs121909005
rs121909005
0.810 GeneticVariation BEFREE Radiological analysis of children with cystic fibrosis who are homozygous for cystic fibrosis transmembrane conductance regulator mutation S549R (T-->G). 10401194

1999

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: 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: rs121909011
rs121909011
0.830 GeneticVariation BEFREE Genotype-phenotype relationship in 12 patients carrying cystic fibrosis mutation R334W. 9039981

1997

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: rs121909021
rs121909021
0.710 GeneticVariation BEFREE 3 times greater than in the general population (3.9%; p < 10(-6)), Variability of mutations detected in carriers was greater than in CF children (21 mutations versus 10) and a high proportion of mild mutations or variants (A349V, R297Q, R347H, V317A, G544S, R553G, etc) was observed in carriers. 11168024

2001