Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80034486
rs80034486
0.900 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
0.830 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: rs113993959
rs113993959
0.800 GeneticVariation BEFREE A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1. 1757966

1991

dbSNP: rs74597325
rs74597325
0.800 GeneticVariation BEFREE A cystic fibrosis patient homozygous for the nonsense mutation R553X. 1682496

1991

dbSNP: rs74597325
rs74597325
0.800 GeneticVariation BEFREE The R553X mutation was present on a further 9 out of 86 German non-delta F508 CF chromosomes linked with the XV2c-KM19-Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2. 1715308

1991

dbSNP: rs121909010
rs121909010
0.720 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

1991

dbSNP: rs397508638
rs397508638
0.100 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
0.020 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: rs78655421
rs78655421
0.900 GeneticVariation BEFREE This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992

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

1992

dbSNP: rs80034486
rs80034486
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: rs121908758
rs121908758
0.830 GeneticVariation BEFREE This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992

dbSNP: rs74503330
rs74503330
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: rs80055610
rs80055610
0.820 GeneticVariation BEFREE This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T. 1376016

1992

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

1992

dbSNP: rs77010898
rs77010898
0.800 GeneticVariation BEFREE In conclusion, the W1282X mutation is the most common cystic fibrosis mutation in the Ashkenazi Jewish patient population in Israel. 1370365

1992

dbSNP: rs213950
rs213950
0.100 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: rs213950
rs213950
0.100 GeneticVariation BEFREE We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations. 1545831

1992

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

1992

dbSNP: rs397508638
rs397508638
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: 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

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: rs121909011
rs121909011
0.850 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
0.840 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