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 Clinical utility gene card for: haemophilia A. 21654722

2011

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation BEFREE Also, the only female patient with severe HA was found to have heterozygous non-sense mutation (c.6683G>A) of exon 24. 20236351

2010

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: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002

dbSNP: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002

dbSNP: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002

dbSNP: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002

dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002

dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002

dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002

dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002

dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002

dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002

dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002

dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002

dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002

dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002

dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002

dbSNP: rs137852431
rs137852431
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs137852431
rs137852431
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002