Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene. 9452073

1998
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. 1695717

1990
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. 12529365

2003
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR. 7524909

1994
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin. 8723693

1996
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR A recurrent deep-intronic splicing CF mutation emphasizes the importance of mRNA studies in clinical practice. 21783433

2011
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. 7543567

1995
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Abnormal regulatory interactions of I148T-CFTR and the epithelial Na+ channel in Xenopus oocytes. 16822950

2007
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 486: Update on carrier screening for cystic fibrosis. 21422883

2011
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients. 24586523

2014
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337

2011
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic fibrosis. 19914445

2009
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 15789152

2005
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: chronic medications for maintenance of lung health. 17761616

2007
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Cystic fibrosis pulmonary guidelines: pulmonary complications: hemoptysis and pneumothorax. 20675678

2010
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in pancreatitis. 22658665

2012
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. 23974870

2013
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients. 7525450

1994
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP. 1284529

1992
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 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: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		T 0.800 CausalMutation CLINVAR Eight mutations with a frequency above 1% (DeltaF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G --> T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. 11788090

2001
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype. 8522333

1995
dbSNP: rs77834169
rs77834169
CFTR
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.800 GeneticVariation UNIPROT Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders. 22475884

2012