Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41276738
rs41276738
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.810 GeneticVariation UNIPROT

dbSNP: rs61754011
rs61754011
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.700 GeneticVariation UNIPROT

dbSNP: rs61754010
rs61754010
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.700 GeneticVariation UNIPROT

dbSNP: rs61750072
rs61750072
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991

dbSNP: rs61750072
rs61750072
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 2010538

1991

dbSNP: rs61750072
rs61750072
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991

dbSNP: rs61750072
rs61750072
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047

1991

dbSNP: rs61750072
rs61750072
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991

dbSNP: rs61749397
rs61749397
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991

dbSNP: rs61749397
rs61749397
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047

1991

dbSNP: rs61749397
rs61749397
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 2010538

1991

dbSNP: rs61749397
rs61749397
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991

dbSNP: rs61749397
rs61749397
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991

dbSNP: rs61749384
rs61749384
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991

dbSNP: rs61749384
rs61749384
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991

dbSNP: rs61749384
rs61749384
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991

dbSNP: rs61749384
rs61749384
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 2010538

1991

dbSNP: rs61749384
rs61749384
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047

1991

dbSNP: rs61749370
rs61749370
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr). 1673047

1991

dbSNP: rs61749370
rs61749370
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991

dbSNP: rs61749370
rs61749370
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991

dbSNP: rs61749370
rs61749370
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences. 2010538

1991

dbSNP: rs61749370
rs61749370
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.800 GeneticVariation UNIPROT "Expression of von Willebrand factor ""Normandy"": an autosomal mutation that mimics hemophilia A." 1906179

1991

dbSNP: rs61749387
rs61749387
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.710 GeneticVariation UNIPROT Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease. 1832934

1991

dbSNP: rs61749387
rs61749387
VWF
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
0.710 GeneticVariation UNIPROT The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain. 1672694

1991