GP6, glycoprotein VI platelet, 51206

N. diseases: 89; N. variants: 11
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: rs1671152
rs1671152
0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME
Musculoskeletal Diseases 0.010 1.000 1 2018 2018