Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
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
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
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Since our screening protocol has enabled detection of R117H (ie, in 1995), 360466 newborns have been screened for cystic fibrosis in Brittany, of whom 124 had elevated immunoreactive trypsin and 2 mutations in the CFTR gene. 17015492

2006

dbSNP: rs78655421
rs78655421
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Role of Cftr genotype in the response to chronic Pseudomonas aeruginosa lung infection in mice. 15246977

2004

dbSNP: rs78655421
rs78655421
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
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
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Molecular basis of hereditary pancreatitis. 10909845

2000

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Study of mutant and polyvariant mutant CFTR genes in patients with congenital absence of the vas deferens. 10653141

2000

dbSNP: rs78655421
rs78655421
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Screening for cystic fibrosis transmembrane conductance regulator gene mutations in men included in an intracytoplasmic sperm injection programme. 10341008

1999

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR Heterogeneity in hereditary pancreatitis. 9557894

1998

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies. 9550361

1998

dbSNP: rs78655421
rs78655421
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR In summary, the 5T allele was not found in cis with CF-causing mutations besides R117H, but an elevated 5T allele frequency in variant CF patients suggests 5T may be associated with disease in some situations. 9259194

1997

dbSNP: rs78655421
rs78655421
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
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
A 0.900 CausalMutation CLINVAR The Irish cystic fibrosis database. 8825927

1995

dbSNP: rs78655421
rs78655421
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
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