Gene: F8 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852431
rs137852431
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 Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs137852442
rs137852442
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs137852442
rs137852442
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs137852442
rs137852442
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
dbSNP: rs137852442
rs137852442
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
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: rs111033615
rs111033615
F8
0.810 GeneticVariation BEFREE Site-directed mutagenesis of B domain-deleted FVIII cDNA (FVIIISQ) was used to introduce two mutations associated with severe cross-reacting material (CRM)-negative (FVIII-C329S) or mild/moderate CRM-reduced (FVIII-G1948D) haemophilia A. Wild-type (FVIIISQ-WT) and variant FVIIISQ proteins were successfully expressed after stable transfection in Chinese hamster ovary (CHO) cells, and partially characterized at the intracellular, molecular and functional levels. 11380445

2001
dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation BEFREE Site-directed mutagenesis of B domain-deleted FVIII cDNA (FVIIISQ) was used to introduce two mutations associated with severe cross-reacting material (CRM)-negative (FVIII-C329S) or mild/moderate CRM-reduced (FVIII-G1948D) haemophilia A. Wild-type (FVIIISQ-WT) and variant FVIIISQ proteins were successfully expressed after stable transfection in Chinese hamster ovary (CHO) cells, and partially characterized at the intracellular, molecular and functional levels. 11380445

2001
dbSNP: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. 10886198

2000
dbSNP: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. 10691849

2000
dbSNP: rs111033615
rs111033615
F8
0.810 GeneticVariation UNIPROT Mutations of the factor VIII gene in thai hemophilia A patients. 10612839

2000
dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. 10691849

2000
dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Mutations of the factor VIII gene in thai hemophilia A patients. 10612839

2000
dbSNP: rs137852403
rs137852403
F8
0.810 GeneticVariation UNIPROT Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. 10886198

2000
dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Mutations of the factor VIII gene in thai hemophilia A patients. 10612839

2000
dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. 10886198

2000
dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation UNIPROT Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. 10691849

2000
dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Mutations of the factor VIII gene in thai hemophilia A patients. 10612839

2000
dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. 10886198

2000
dbSNP: rs137852410
rs137852410
F8
0.810 GeneticVariation UNIPROT Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. 10691849

2000