Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852374
rs137852374
F8
0.810 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011
dbSNP: rs137852374
rs137852374
F8
0.810 GeneticVariation BEFREE We report a novel rare missense variant (P2311S) in a haemophilia A family that was mistakenly considered as pathogenic leading to amniocentesis, prenatal diagnosis and influenced the peripartal management of the putatively affected child. 19404520

2009
dbSNP: rs137852374
rs137852374
F8
A 0.810 CausalMutation CLINVAR