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: rs121908064
rs121908064
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: rs121908064
rs121908064
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: rs121908064
rs121908064
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		0.820 GeneticVariation BEFREE Thus, M239V reproduced the unique functional abnormality of the GPIb/IX complex in platelet-type vWD. 9226170 1997
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: rs121908064
rs121908064
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: rs121908064
rs121908064
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: rs121908064
rs121908064
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
dbSNP: rs121908064
rs121908064
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C1280798
Disease:
Von Willebrand disease, platelet type 		G 0.820 CausalMutation CLINVAR
dbSNP: rs121909510
rs121909510
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. 27375219 2016
dbSNP: rs121909511
rs121909511
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		A 0.800 CausalMutation CLINVAR A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family. 27779167 2016
dbSNP: rs121909511
rs121909511
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. 27375219 2016
dbSNP: rs28999110
rs28999110
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		0.800 GeneticVariation UNIPROT Mutations Causing Slow-Channel Myasthenia Reveal That a Valine Ring in the Channel Pore of Muscle AChR is Optimized for Stabilizing Channel Gating. 27375219 2016
dbSNP: rs121909511
rs121909511
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225413
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL 		A 0.800 CausalMutation CLINVAR A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome. 21822932 2012
dbSNP: rs121909512
rs121909512
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360 2012
dbSNP: rs121909516
rs121909516
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360 2012
dbSNP: rs121909517
rs121909517
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360 2012
dbSNP: rs193919341
rs193919341
Entrez Id: 1145;100130311
Gene Symbol: CHRNE;C17orf107
CHRNE;C17orf107
CUI: C4225369
Disease:
MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL 		0.800 GeneticVariation UNIPROT Highly fatal fast-channel syndrome caused by AChR ε subunit mutation at the agonist binding site. 22592360 2012
dbSNP: rs6065
rs6065
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C0032181
Disease:
Platelet Count measurement 		T 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs6065
rs6065
Entrez Id: 1145;2811
Gene Symbol: CHRNE;GP1BA
CHRNE;GP1BA
CUI: C0032181
Disease:
Platelet Count measurement 		T 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011