Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A. 11442643

2001

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. 11298607

2001

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. 10800171

2000

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum. Mutation in brief no. 241. Online. 10338101

1999

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. 8644728

1996

dbSNP: rs137852358
rs137852358
F8
0.810 CausalMutation CLINVAR The molecular genetics of haemophilia A: screening for point mutations in the factor VIII gene using the restriction enzyme TaqI. 1840568

1991

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. 1908096

1991

dbSNP: rs137852358
rs137852358
F8
0.810 CausalMutation CLINVAR Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. 2106480

1990

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent. 2105106

1990

dbSNP: rs137852358
rs137852358
F8
0.810 CausalMutation CLINVAR Molecular analysis of hemophilia A mutations in the Finnish population. 2104741

1990

dbSNP: rs137852358
rs137852358
F8
0.810 CausalMutation CLINVAR A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A. 2493803

1989

dbSNP: rs137852358
rs137852358
F8
0.810 CausalMutation CLINVAR Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. 2833855

1988

dbSNP: rs137852358
rs137852358
F8
0.810 GeneticVariation UNIPROT Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. 2833855

1988

dbSNP: rs137852436
rs137852436
F8
0.800 GeneticVariation UNIPROT Factor VIII Antigen, Activity, and Mutations in Hemophilia A. 25550078

2016

dbSNP: rs137852419
rs137852419
F8
0.800 GeneticVariation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399

2014

dbSNP: rs28933682
rs28933682
F8
0.800 CausalMutation CLINVAR Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein. 21217077

2011

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. 15810915

2005

dbSNP: rs137852428
rs137852428
F8
0.800 GeneticVariation UNIPROT Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. 15682412

2005

dbSNP: rs137852435
rs137852435
F8
0.800 GeneticVariation UNIPROT Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. 15810915

2005

dbSNP: rs137852442
rs137852442
F8
0.800 GeneticVariation UNIPROT Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. 15682412

2005

dbSNP: rs137852453
rs137852453
F8
0.800 GeneticVariation UNIPROT Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. 15810915

2005

dbSNP: rs137852466
rs137852466
F8
0.800 GeneticVariation UNIPROT Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype. 15810915

2005

dbSNP: rs111033614
rs111033614
F8
0.800 GeneticVariation UNIPROT High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation. 12325022

2003

dbSNP: rs137852355
rs137852355
F8
0.800 GeneticVariation UNIPROT Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions. 12871415

2003