Gene: F8 ×
Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28935203
rs28935203
F8
0.810 GeneticVariation BEFREE A variant in the F8 gene causing hemophilia A (rs28935203; c.5096A>T; p.Y1699F) was also identified. 27629384

2016
dbSNP: rs137852406
rs137852406
F8
0.810 GeneticVariation BEFREE In the present retrospective study we analysed the clinical data of 16 haemophiliacs with the T295A missense mutation treated at Bonn Haemophilia Centre. 25382774

2014
dbSNP: rs137852442
rs137852442
F8
0.810 GeneticVariation BEFREE These results indicated that relatively enhanced binding affinity of FVIII R1781H for FX appeared to moderate the severity of the haemophilia A phenotype. 23467620

2013
dbSNP: rs137852428
rs137852428
F8
0.810 GeneticVariation BEFREE Hemophilia A patients with R593C missense substitutions and these HLA haplotypes had an increased incidence of inhibitors in our cohorts, supporting a paradigm in which presentation of FVIII epitopes containing the wild-type R593 influences inhibitor risk in this hemophilia A sub-population. 21251204

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: 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: rs137852403
rs137852403
F8
0.810 GeneticVariation BEFREE Furthermore two missense mutations have been ascertained: a novel, S183R, causing a mild phenotype of hemophilia A and R282H, previously described in association with severe hemophilia A. 10408784

1999
dbSNP: rs137852431
rs137852431
F8
0.810 GeneticVariation BEFREE To determine the mechanistic basis of the genetic defects within the A2-domain for FVIII function we constructed six mutations within the FVIII cDNA that were previously found in five CRM-positive hemophilia A patients (R527W, S558F, I566T, V634A, and V634M) and one CRM-reduced hemophilia A patient (DeltaF652/3). 9427707

1998
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