GP6, glycoprotein VI platelet, 51206

N. diseases: 89; N. variants: 11
Disease: SMALL PATELLA SYNDROME ×
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: rs12610286
rs12610286 		0.925 0.120 19 55030031 intron variant A/G snv 0.32
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1654416
rs1654416 		0.925 0.120 19 55018667 missense variant C/G;T snv 4.0E-06; 0.81
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018
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
dbSNP: rs1671153
rs1671153 		0.925 0.120 19 55015821 intron variant G/T snv 0.74
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2304167
rs2304167 		0.925 0.120 19 55015713 missense variant C/T snv 0.80 0.74
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		Musculoskeletal Diseases 0.010 1.000 1 2018 2018