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: rs121909750
rs121909750
GP1BB ; SEPTIN5 ; SEPT5-GP1BB
1.000 0.080 22 19724181 missense variant A/G;T snv 4.2E-04
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		0.810 1.000 1 1997 2001