Source: UNIPROT ×
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852265
rs137852265
F9
0.800 GeneticVariation UNIPROT Comprehensive analysis of phenotypes and genetics in 21 Chinese families with haemophilia B: characterization of five novel mutations. 25251685

2015

dbSNP: rs137852240
rs137852240
F9
0.800 GeneticVariation UNIPROT Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations. 12588353

2003

dbSNP: rs137852249
rs137852249
F9
0.800 GeneticVariation UNIPROT Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations. 12588353

2003

dbSNP: rs137852254
rs137852254
F9
0.800 GeneticVariation UNIPROT Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. 12604421

2003

dbSNP: rs137852265
rs137852265
F9
0.800 GeneticVariation UNIPROT Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. 12604421

2003

dbSNP: rs137852233
rs137852233
F9
0.800 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: rs137852259
rs137852259
F9
0.800 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: rs137852281
rs137852281
F9
0.800 GeneticVariation UNIPROT Hemophilia B in a female carrier due to skewed inactivation of the normal X-chromosome. 9590153

1998

dbSNP: rs137852254
rs137852254
F9
0.800 GeneticVariation UNIPROT Mutations associated with hemophilia B in Turkish patients. 9222764

1997

dbSNP: rs137852238
rs137852238
F9
0.800 GeneticVariation UNIPROT Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. 8076946

1994

dbSNP: rs137852247
rs137852247
F9
0.800 GeneticVariation UNIPROT Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. 8076946

1994

dbSNP: rs137852249
rs137852249
F9
0.800 GeneticVariation UNIPROT Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411. 7981722

1994

dbSNP: rs137852249
rs137852249
F9
0.800 GeneticVariation UNIPROT Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B. 8257988

1994

dbSNP: rs137852259
rs137852259
F9
0.800 GeneticVariation UNIPROT Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B. 8257988

1994

dbSNP: rs137852259
rs137852259
F9
0.800 GeneticVariation UNIPROT Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. 8076946

1994

dbSNP: rs137852280
rs137852280
F9
0.800 GeneticVariation UNIPROT Factor IX gene mutations causing haemophilia B: comparison of SSC screening versus systematic DNA sequencing and diagnostic applications. 8076946

1994

dbSNP: rs137852280
rs137852280
F9
0.800 GeneticVariation UNIPROT A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient. 8199596

1994

dbSNP: rs137852249
rs137852249
F9
0.800 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992

dbSNP: rs137852275
rs137852275
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

1992

dbSNP: rs137852276
rs137852276
F9
0.800 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992

dbSNP: rs137852277
rs137852277
F9
0.800 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992

dbSNP: rs137852278
rs137852278
F9
0.800 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992

dbSNP: rs137852279
rs137852279
F9
0.800 GeneticVariation UNIPROT Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. 1346975

1992

dbSNP: rs267606792
rs267606792
F9
0.800 GeneticVariation UNIPROT Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. 1615485

1992

dbSNP: rs137852268
rs137852268
F9
0.800 GeneticVariation UNIPROT Isoleucine397 is changed to threonine in two females with hemophilia B. 1902289

1991