Gene: CFTR ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182

2005
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182

2005
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365

2003
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365

2003
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs78655421
rs78655421
CFTR
0.900 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633

1996
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT The three major CF mutations in Northern Ireland are delta F508, G551D, and R117H with respective frequencies of 68.0%, 5.1%, and 4.1%. 8956039

1996
dbSNP: rs75527207
rs75527207
CFTR
0.900 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693

1996
dbSNP: rs80034486
rs80034486
CFTR
0.900 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633

1996