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: rs199588110
rs199588110 		1.000 19 55032292 missense variant G/A snv 1.2E-03 1.2E-03
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.700 1.000 2 2009 2009
dbSNP: rs387906919
rs387906919 		1.000 19 55027664 missense variant C/A;T snv 4.0E-06
CUI: C3280120
Disease: Glycoprotein VI deficiency
Glycoprotein VI deficiency 		0.700 1.000 2 2009 2009
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs1654425
rs1654425 		19 55027612 synonymous variant T/C;G snv 0.87; 4.0E-05
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1671152
rs1671152 		0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81
CUI: C0032176
Disease: Platelet aggregation
Platelet aggregation 		0.700 1.000 1 2010 2010
dbSNP: rs1671152
rs1671152 		0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs61658003
rs61658003 		19 55032835 5 prime UTR variant C/A;G snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.030 1.000 3 2009 2017
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: rs12610286
rs12610286 		0.925 0.120 19 55030031 intron variant A/G snv 0.32
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2001 2001
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1613662
rs1613662 		0.851 0.120 19 55025227 missense variant G/A snv 0.85 0.83
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1654413
rs1654413 		1.000 0.080 19 55014991 missense variant A/G;T snv 3.7E-05; 2.0E-05; 0.80; 4.4E-04
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1654416
rs1654416 		0.925 0.120 19 55018667 missense variant C/G;T snv 4.0E-06; 0.81
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
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: C4552766
Disease: Miscarriage
Miscarriage 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs1671152
rs1671152 		0.882 0.160 19 55014977 missense variant T/G snv 0.85 0.81
CUI: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		Immune System Diseases; Nervous System 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: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
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: C0085292
Disease: Stiff-Person Syndrome
Stiff-Person Syndrome 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018