Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. 12100158

2002
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient]. 11758225

2001
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. 11167791

2001
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome. 10583255

1999
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. 9886312

1998
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. 9163595

1997
dbSNP: rs28933377
rs28933377
GP9
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 GeneticVariation UNIPROT Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 8481514

1993