Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		T 0.710 CausalMutation CLINVAR Combined coagulation factor VIII and factor IX deficiency (CDF8F9) in a patient from Lithuania. 27824213

2016
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		T 0.710 CausalMutation CLINVAR Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321

2015
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		T 0.710 CausalMutation CLINVAR Our comprehensive HB population included five patients with long-lasting FIX inhibitors: three nonsense (p.E35* (novel), p.R75*, p.W240*) and two entire- F9 deletions. 23093250

2013
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		0.710 GeneticVariation BEFREE Our comprehensive HB population included five patients with long-lasting FIX inhibitors: three nonsense (p.E35* (novel), p.R75*, p.W240*) and two entire- F9 deletions. 23093250

2013
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		T 0.710 CausalMutation CLINVAR Identification of mutations in the F9 gene including exon deletion by multiplex ligation-dependent probe amplification in 33 unrelated Korean patients with haemophilia B. 18624698

2008
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		T 0.710 CausalMutation CLINVAR Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs. 1969838

1990
dbSNP: rs137852227
rs137852227
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		T 0.710 CausalMutation CLINVAR Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene. 2198809

1990