Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508139
rs397508139
CFTR
0.810 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: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs397508139
rs397508139
CFTR
0.810 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: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Identification of three novel cystic fibrosis mutations in a sample of Italian cystic fibrosis patients. 8406518

1993
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998
dbSNP: rs397508139
rs397508139
CFTR
0.810 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: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909

1994
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs397508139
rs397508139
CFTR
0.810 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: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs397508139
rs397508139
CFTR
0.810 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: rs397508139
rs397508139
CFTR
0.810 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: rs397508139
rs397508139
CFTR
0.810 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529

1992