Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus. 26014425

2016
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs201124247
rs201124247
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: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs201124247
rs201124247
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: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs201124247
rs201124247
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: rs201124247
rs201124247
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: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Phenotypic discordance in three siblings affected by atypical cystic fibrosis with the F508del/D614G genotype. 16478680

2006
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182

2005
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Characterization of cystic fibrosis conductance transmembrane regulator gene mutations and IVS8 poly(T) variants in Portuguese patients with congenital absence of the vas deferens. 15333598

2004
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy. 15084222

2004
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Mutations in the SPINK1 gene in idiopathic pancreatitis Italian patients. 12825076

2003
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs201124247
rs201124247
CFTR
0.800 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365

2003
dbSNP: rs201124247
rs201124247
CFTR
G 0.800 CausalMutation CLINVAR Genotype and phenotype correlations in patients with cystic fibrosis and pancreatitis. 12454843

2002