Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs28937282
rs28937282
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011

dbSNP: rs28937282
rs28937282
F8
0.810 GeneticVariation BEFREE We have expressed and purified B-domainless FVIII (FVIII(WT)) and B-domainless FVIII containing the hemophilia A-associated mutations Ser558Phe, Val559Ala, Asp560Ala, Gln565Arg, and the activated protein C cleavage site mutant Arg562Ala. 12091341

2002

dbSNP: rs28937282
rs28937282
F8
A 0.810 CausalMutation CLINVAR