Gene: F9 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767828752
rs767828752
F9
0.700 GeneticVariation UNIPROT

dbSNP: rs757996262
rs757996262
F9
0.700 GeneticVariation UNIPROT

dbSNP: rs753654616
rs753654616
F9
0.010 GeneticVariation BEFREE The sister of the index case was heterozygous only for F9 c.845A>G, indicating carriership of haemophilia B alone. 20860608

2011
dbSNP: rs587776736
rs587776736
F9
A 0.700 CausalMutation CLINVAR

dbSNP: rs587776735
rs587776735
F9
C 0.700 CausalMutation CLINVAR

dbSNP: rs398122990
rs398122990
F9
G 0.700 CausalMutation CLINVAR

dbSNP: rs387906482
rs387906482
F9
0.710 GeneticVariation BEFREE Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one. 10942410

2000
dbSNP: rs387906482
rs387906482
F9
C 0.710 CausalMutation CLINVAR

dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa. 9169594

1997
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Clinical utility gene card for: haemophilia B. 22274582

2012
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. 25251685

2014
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Factor IX Cardiff: a variant factor IX protein that shows abnormal activation is caused by an arginine to cysteine substitution at position 145. 2775660

1989
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Blood clotting factor IX BM Nagoya. Substitution of arginine 180 by tryptophan and its activation by alpha-chymotrypsin and rat mast cell chymase. 2592373

1989
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Mutations in the catalytic domain of human coagulation factor IX: rapid characterization by direct genomic sequencing of DNA fragments displaying an altered melting behavior. 2714791

1989
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities. 1958666

1991
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Three point mutations in the factor IX genes of five hemophilia B patients. Identification strategy using localization by altered epitopes in their hemophilic proteins. 2472424

1989
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321

2015
dbSNP: rs387906481
rs387906481
F9
C 0.800 CausalMutation CLINVAR

dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG. 2773937

1989
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Five novel factor IX mutations in unrelated hemophilia B patients. 9452115

1998
dbSNP: rs387906481
rs387906481
F9
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: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations. 11122099

2000
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm. 2372509

1990
dbSNP: rs387906481
rs387906481
F9
0.800 GeneticVariation UNIPROT Genetic defect responsible for the dysfunctional protein: factor IXLong Beach. 3401602

1988