Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 GeneticVariation CLINVAR

dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. 11737931

2001
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Cystic fibrosis mutational analysis identified seven patients who had the R117H mutation. 15997883

2005
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR A mutation in CFTR produces different phenotypes depending on chromosomal background. 7506096

1993
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. 7599637

1995
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 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: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Adenosine and its nucleotides activate wild-type and R117H CFTR through an A2B receptor-coupled pathway. 9950763

1999
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Because PPi stimulated wild-type channels, we tested its effect on CFTR containing the cystic fibrosis mutations: delta F508, R117H, and G551S.PPi stimulated all three. 7544788

1995
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR CFTR gene variant for patients with congenital absence of vas deferens. 7573058

1995
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. 19092437

2008
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 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: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8. 16266832

2006
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. 9272157

1997
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Effect of genotype on phenotype and mortality in cystic fibrosis: a retrospective cohort study. 12767731

2003
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry. 8698344

1996
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation BEFREE Generally, p.Arg117His-5T patients had more severe CF disease. 30279124

2019
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 9259197

1997