Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Impact of the deltaF508 mutation in first nucleotide-binding domain of human cystic fibrosis transmembrane conductance regulator on domain folding and structure. 15528182

2005
dbSNP: rs78194216
rs78194216
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: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes. 8956039

1996
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation BEFREE We report the clinical features of 21 unrelated cystic fibrosis (CF) patients from Portugal and Spain, who carry the mutation R1066C in the CFTR gene. 9375855

1997
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis. 9452054

1998
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Standards and guidelines for CFTR mutation testing. 12394352

2003
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs78194216
rs78194216
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
dbSNP: rs78194216
rs78194216
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: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin. 9554753

1998
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.810 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs78194216
rs78194216
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: rs78194216
rs78194216
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: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.810 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 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: rs78194216
rs78194216
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: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Variant cystic fibrosis phenotypes in the absence of CFTR mutations. 12167682

2002
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 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: rs78194216
rs78194216
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: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT). 1710600

1991
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene. 7683628

1993
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. 11280952

2001
dbSNP: rs78194216
rs78194216
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.810 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995