GP5, glycoprotein V platelet, 2814

N. diseases: 10; N. variants: 2
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10638925
rs10638925
3 194399020 upstream gene variant -/GTAAAC delins
Platelet Component Distribution Width Measurement
0.700 1.000 1 2016 2016
dbSNP: rs776621159
rs776621159
1.000 0.080 3 194398266 missense variant A/G snv 3.5E-05 3.5E-05
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002