Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis. 25910067

2015
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs267606723
rs267606723
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: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Ivacaftor potentiation of multiple CFTR channels with gating mutations. 22293084

2012
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs267606723
rs267606723
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: rs267606723
rs267606723
CFTR
0.810 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: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation BEFREE In order to further elucidate the contribution of complex alleles to the wide phenotypic variability of cystic fibrosis (CF), we investigated the structure-function relationships of a severe CF-associated complex allele [p.S912L;p.G1244V]. 15744523

2005
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. 15638824

2005
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Mutation spectrum in Jewish cystic fibrosis patients in Israel: implication to carrier screening. 15948195

2005
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs267606723
rs267606723
CFTR
0.810 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. 11242048

2001
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Cystic fibrosis: the 'bicarbonate before chloride' hypothesis. 11448786

2001
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. 10388469

1999
dbSNP: rs267606723
rs267606723
CFTR
A 0.810 CausalMutation CLINVAR Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains. 1382316

1992