rs121918038, GP9

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Bernard-Soulier Syndrome
CUI: C0005129
Disease: Bernard-Soulier Syndrome
23 0.925 0.080 3 129061759 missense variant T/C snv 0.710 1.000 7 1993 2002
Bernard-Soulier Syndrome, Type C
CUI: C1856448
Disease: Bernard-Soulier Syndrome, Type C
6 0.925 0.080 3 129061759 missense variant T/C snv 0.700 0