rs121918037, GP9

N. diseases: 3
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 0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06 0.730 1.000 9 1993 2017
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2019 2019
Bernard-Soulier Syndrome, Type C
CUI: C1856448
Disease: Bernard-Soulier Syndrome, Type C
6 0.882 0.080 3 129061951 missense variant T/C;G snv 4.0E-06 0.700 0