Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia. 12120234

2001
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Six possibly CF-related mutations were detected: L997F and 3878delG were found in two of the subjects already carrying another mutation, S1235R and L997F in one patient carrying the 5T, and L997F and D614G in the two patients with borderline sweat chloride. 11462247

2001
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models. 11504857

2001
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR A conserved region of the R domain of cystic fibrosis transmembrane conductance regulator is important in processing and function. 9822639

1998
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator. 9736778

1998
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 9259197

1997
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Characterization of more than 85% of cystic fibrosis alleles in the Greek population, including five novel mutations. 9003508

1997
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. 8956039

1996
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693

1996
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633

1996
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens. 9239681

1996
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR CFTR gene variant for patients with congenital absence of vas deferens. 7573058

1995
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations. 7472820

1995
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909

1994
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. 7683628

1993
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518

1993
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518

1993
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529

1992