Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28933377
rs28933377
GP9
0.925 0.080 3 129061906 missense variant T/C snv 6.9E-05 8.4E-05
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.700 1.000 7 1993 2002