Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Diagnosis and treatment of factor VIII and IX inhibitors in congenital haemophilia: (4th edition). UK Haemophilia Centre Doctors Organization. 23157203

2013

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia A. 21654722

2011

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Three novel point mutations causing haemophilia A. 12199686

2002

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT 11 hemophilia A patients without mutations in the factor VIII encoding gene. 12195713

2002

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A. 12351418

2002

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Identification of seven novel mutations of F8C by DHPLC. 12203998

2002

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Mutations of the factor VIII gene in thai hemophilia A patients. 10612839

2000

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. 10886198

2000

dbSNP: rs111033613
rs111033613
F8
0.800 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: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch. Haemophilia Centres. 10404764

1999

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. 9569180

1998

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. 9792405

1998

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. 10215414

1998

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC). 9452104

1998

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. 9829908

1998

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. 8759905

1996

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene. 8322269

1993

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin. 1356412

1992

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. 1301960

1992

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. 2106480

1990

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A. 2510835

1989

dbSNP: rs111033613
rs111033613
F8
0.800 GeneticVariation UNIPROT Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). 2498882

1989

dbSNP: rs111033613
rs111033613
F8
A 0.800 CausalMutation CLINVAR