Disease: Von Willebrand disease, platelet type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation BEFREE GPIbα and vWF play a role in megakaryocytopoiesis, thus we aimed to investigate megakaryocyte differentiation and proplatelet-formation in platelet-type von Willebrand disease using megakaryocytes from a patient carrying the Met239Val variant and from mice carrying the Gly233Val variant. 30655369 2019
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation UNIPROT Identification of a novel point mutation in platelet glycoprotein Ibalpha, Gly to Ser at residue 233, in a Japanese family with platelet-type von Willebrand disease. 14521605 2003
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation UNIPROT Pseudo-von Willebrand disease: a mutation in the platelet glycoprotein Ib alpha gene associated with a hyperactive surface receptor. 8384898 1993
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation UNIPROT Expression of the phenotypic abnormality of platelet-type von Willebrand disease in a recombinant glycoprotein Ib alpha fragment. 8486780 1993
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation BEFREE Conformational energy analysis of the substitution of Val for Gly 233 in a functional region of platelet GPIb alpha in platelet-type von Willebrand disease. 1911886 1991
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation UNIPROT Mutation in the gene encoding the alpha chain of platelet glycoprotein Ib in platelet-type von Willebrand disease. 2052556 1991
dbSNP: rs121908062
rs121908062
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		T 0.820 CausalMutation CLINVAR