rs5030764, GP9

N. diseases: 5
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 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.870 1.000 11 1993 2019
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.700 1.000 1 2019 2019
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 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 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.700 0
Blood Platelet Disorders
CUI: C0005818
Disease: Blood Platelet Disorders
5 0.882 0.080 3 129061921 missense variant A/G snv 4.8E-04 7.4E-04 0.010 1.000 1 2016 2016