Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508479
rs397508479
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: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs397508479
rs397508479
CFTR
G 0.800 GeneticVariation CLINVAR A classification model relative to splicing for variants of unknown clinical significance: application to the CFTR gene. 23381846

2013
dbSNP: rs397508479
rs397508479
CFTR
G 0.800 GeneticVariation CLINVAR Pancreatitis among patients with cystic fibrosis: correlation with pancreatic status and genotype. 15772171

2005
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518

1993
dbSNP: rs397508479
rs397508479
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: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs397508479
rs397508479
CFTR
G 0.800 GeneticVariation CLINVAR Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. 7525450

1994
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995
dbSNP: rs397508479
rs397508479
CFTR
G 0.800 GeneticVariation CLINVAR Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia. 10922396

2000
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). 1710600

1991
dbSNP: rs397508479
rs397508479
CFTR
G 0.800 GeneticVariation CLINVAR Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France. 10923036

2000
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Structures of a minimal human CFTR first nucleotide-binding domain as a monomer, head-to-tail homodimer, and pathogenic mutant. 20150177

2010
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure. 8829633

1996
dbSNP: rs397508479
rs397508479
CFTR
0.800 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012