Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Three charged amino acids in extracellular loop 1 are involved in maintaining the outer pore architecture of CFTR. 25024266

2014
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Screening for F508del as a first step in the molecular diagnosis of cystic fibrosis. 23857699

2014
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. 23276700

2013
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Combined computational-experimental analyses of CFTR exon strength uncover predictability of exon-skipping level. 23420618

2013
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Comparing the American and European diagnostic guidelines for cystic fibrosis: same disease, different language? 22504961

2012
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Newborn screening for cystic fibrosis in Alberta: Two years of experience. 22043142

2010
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond. 19914443

2009
dbSNP: rs113993958
rs113993958
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: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening. 18373402

2008
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR A haplotype framework for cystic fibrosis mutations in Iran. 16436643

2006
dbSNP: rs113993958
rs113993958
CFTR
0.800 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. 15638824

2005
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study. 15371907

2005