Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852249
rs137852249
F9
A 0.810 CausalMutation CLINVAR Results As a model we chose the most frequent HB mutation (p.R294Q, ~100 patients), compared with other recurrent mutations associated with severe/moderate type I HB. 29993188

2018

dbSNP: rs137852249
rs137852249
F9
0.810 GeneticVariation BEFREE Conclusions Altogether, our data detail molecular mechanisms underlying type I HB and candidate NaPBA as affordable 'personalized' therapeutics for patients affected by the highly frequent p.R294Q mutation, and with reduced access to substitutive therapy. 29993188

2018

dbSNP: rs137852237
rs137852237
F9
0.810 GeneticVariation BEFREE Nineteen point mutations were identified, including a novel missense variant (c.520G > C, p.Val174Leu) in a patient with severe HB and a previously unreported homozygous missense mutation (c.571C > T, p.Arg191Cys) in a female patient with mild HB. 27109384

2016

dbSNP: rs137852237
rs137852237
F9
0.810 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852249
rs137852249
F9
0.810 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852237
rs137852237
F9
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia B. 22274582

2012

dbSNP: rs137852249
rs137852249
F9
A 0.810 CausalMutation CLINVAR Spectrum of F9 mutations in Chinese haemophilia B patients: identification of 20 novel mutations. 22544209

2012

dbSNP: rs137852249
rs137852249
F9
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia B. 22274582

2012

dbSNP: rs137852249
rs137852249
F9
A 0.810 CausalMutation CLINVAR Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity. 19699296

2009

dbSNP: rs137852249
rs137852249
F9
A 0.810 CausalMutation CLINVAR Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins. 2472424

1989

dbSNP: rs137852237
rs137852237
F9
T 0.810 CausalMutation CLINVAR

dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321

2015

dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. 25251685

2014

dbSNP: rs137852226
rs137852226
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852228
rs137852228
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852229
rs137852229
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852230
rs137852230
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852231
rs137852231
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852233
rs137852233
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852238
rs137852238
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852240
rs137852240
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852243
rs137852243
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852246
rs137852246
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852251
rs137852251
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs137852258
rs137852258
F9
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013