Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Modulation of endocytic trafficking and apical stability of CFTR in primary human airway epithelial cultures. 20008117

2010
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		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: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.810 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		G 0.810 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs397508276
rs397508276
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015