Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation BEFREE A variant in the F8 gene causing hemophilia A (rs28935203; c.5096A>T; p.Y1699F) was also identified. 27629384

2016
dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation BEFREE In the present retrospective study we analysed the clinical data of 16 haemophiliacs with the T295A missense mutation treated at Bonn Haemophilia Centre. 25382774

2014
dbSNP: rs111033615
rs111033615
F8
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: rs137852358
rs137852358
F8
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: rs137852374
rs137852374
F8
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: rs137852403
rs137852403
F8
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: rs137852406
rs137852406
F8
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: rs137852410
rs137852410
F8
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: rs137852428
rs137852428
F8
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: rs137852431
rs137852431
F8
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: rs137852442
rs137852442
F8
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: rs137852442
rs137852442
F8
0.810 GeneticVariation BEFREE These results indicated that relatively enhanced binding affinity of FVIII R1781H for FX appeared to moderate the severity of the haemophilia A phenotype. 23467620

2013
dbSNP: rs28935203
rs28935203
F8
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: rs28937282
rs28937282
F8
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: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852374
rs137852374
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation BEFREE Hemophilia A patients with R593C missense substitutions and these HLA haplotypes had an increased incidence of inhibitors in our cohorts, supporting a paradigm in which presentation of FVIII epitopes containing the wild-type R593 influences inhibitor risk in this hemophilia A sub-population. 21251204

2011
dbSNP: rs137852431
rs137852431
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852442
rs137852442
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011