GP1BB, glycoprotein Ib platelet subunit beta, 2812

N. diseases: 192; N. variants: 7
Disease: Bernard-Soulier Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783648
rs587783648
Entrez Id: 2812;5413;100526833
Gene Symbol: GP1BB;SEPTIN5;SEPT5-GP1BB
GP1BB;SEPTIN5;SEPT5-GP1BB
CUI: C0005129
Disease:
Bernard-Soulier Syndrome 		T 0.700 GeneticVariation CLINVAR