Source: CURATED

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 CausalMutation CLINVAR The Irish cystic fibrosis database. 8825927

1995
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR In this report, we present an asymptomatic infant, seen for a second opinion, who was given the diagnosis of cystic fibrosis (CF) as a neonate based on the presence of two mutant alleles, DeltaF508 and R117H. 10103316

1999
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors. 24014130

2014
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR Male infertility as the only presenting sign of cystic fibrosis when homozygous for the mild mutation R117H. 7692051

1993
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.900 GeneticVariation UNIPROT Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. 25431289

2014
dbSNP: rs78655421
rs78655421
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		A 0.900 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014
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 Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. 11491164

2001
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
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 		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 		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 UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012
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 		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 		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 		A 0.900 CausalMutation CLINVAR Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. 11168024

2001
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 pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
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 A single-tube multiplex system for the simultaneous detection of 10 common cystic fibrosis mutations. 7599637

1995