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
0.900 GeneticVariation UNIPROT Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR. 25981758

2015

dbSNP: rs78655421
rs78655421
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
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
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
0.900 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012

dbSNP: rs78655421
rs78655421
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
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening. 20605539

2010

dbSNP: rs78655421
rs78655421
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
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
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
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
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
0.900 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007

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
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
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
0.900 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003

dbSNP: rs78655421
rs78655421
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
0.900 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

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 '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 Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. 11168024

2001