Gene: F8 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs782158761
rs782158761
F8
0.010 GeneticVariation BEFREE A hemizygous c.602G > A variant in the F8 gene, leading to a single amino acid substitution at codon 201 from glycine to glutamic acid (p.G201E) within the factor VIII (FVIII) A1 domain, was identified in the HA family. 30839399

2019
dbSNP: rs1800297
rs1800297
F8
0.010 GeneticVariation BEFREE Most of these 'HA variants' were ethnic-specific with low allele frequency; however, one variant (p.M2257V) was present in 27% of African subjects. 26383047

2015
dbSNP: rs370737113
rs370737113
F8
0.010 GeneticVariation BEFREE The p.E132D, p.T281A, p.A303V and p.D422H 'HA variants' were identified only in males. 26383047

2015
dbSNP: rs1411563373
rs1411563373
F8
0.010 GeneticVariation BEFREE One novel mutation, Y156C, was associated with moderate HA.Nine novel mutations caused mild HA. 16173970

2005
dbSNP: rs1189348665
rs1189348665
F8
0.700 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs1189348665
rs1189348665
F8
0.700 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs1189348665
rs1189348665
F8
0.700 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
dbSNP: rs1189348665
rs1189348665
F8
0.700 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs1208703993
rs1208703993
F8
0.700 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs1208703993
rs1208703993
F8
0.700 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs1208703993
rs1208703993
F8
0.700 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs1208703993
rs1208703993
F8
0.700 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
dbSNP: rs1281943689
rs1281943689
F8
0.700 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
dbSNP: rs1281943689
rs1281943689
F8
0.700 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs1281943689
rs1281943689
F8
0.700 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs1281943689
rs1281943689
F8
0.700 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs1290383918
rs1290383918
F8
0.700 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs1290383918
rs1290383918
F8
0.700 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
dbSNP: rs1290383918
rs1290383918
F8
0.700 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs1290383918
rs1290383918
F8
0.700 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs1296842178
rs1296842178
F8
0.700 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
dbSNP: rs1296842178
rs1296842178
F8
0.700 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002
dbSNP: rs1296842178
rs1296842178
F8
0.700 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002
dbSNP: rs1296842178
rs1296842178
F8
0.700 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002
dbSNP: rs1312347909
rs1312347909
F8
0.700 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002