Gene: F9 ×
Source: UNIPROT ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1170838100
rs1170838100
F9
0.700 GeneticVariation UNIPROT

dbSNP: rs1175050951
rs1175050951
F9
0.700 GeneticVariation UNIPROT

dbSNP: rs1182648920
rs1182648920
F9
0.700 GeneticVariation UNIPROT

dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. 8076946

1994
dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321

2015
dbSNP: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Genetic defect responsible for the dysfunctional protein: factor IXLong Beach. 3401602

1988
dbSNP: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa. 8295821

1993
dbSNP: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX. 2162822

1990
dbSNP: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern. 9600455

1998
dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Identification of the molecular defect in factor IX Chapel Hill: substitution of histidine for arginine at position 145. 6603618

1983
dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992
dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Five novel factor IX mutations in unrelated hemophilia B patients. 9452115

1998
dbSNP: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Twenty-five novel mutations of the factor IX gene in haemophilia B. 8680410

1995
dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 GeneticVariation UNIPROT Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. 25251685

2014
dbSNP: rs1216516070
rs1216516070
F9
0.700 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: rs1216516070
rs1216516070
F9
0.700 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: rs1222227572
rs1222227572
F9
0.700 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: rs1222227572
rs1222227572
F9
0.700 GeneticVariation UNIPROT Twenty-five novel mutations of the factor IX gene in haemophilia B. 8680410

1995