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: rs3792366
rs3792366 		3 123121029 intron variant G/A;T snv
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.800 1.000 1 2011 2011
dbSNP: rs1976714
rs1976714 		3 123145924 intron variant G/T snv 0.32
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 2 2016 2017
dbSNP: rs1530455
rs1530455 		3 123136052 intron variant T/C snv 0.51
CUI: C2697765
Disease: Interleukin 17 Measurement
Interleukin 17 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs16834024
rs16834024 		3 123153306 intron variant G/A snv 5.2E-02
CUI: C0337428
Disease: Fibrinogen assay
Fibrinogen assay 		0.700 1.000 1 2017 2017
dbSNP: rs2278668
rs2278668 		3 123116385 intron variant T/C snv 0.48
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3804749
rs3804749 		3 123114156 intron variant C/T snv 0.48
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3804749
rs3804749 		3 123114156 intron variant C/T snv 0.48
CUI: C3828530
Disease: Platelet Component Distribution Width Measurement
Platelet Component Distribution Width Measurement 		0.700 1.000 1 2016 2016
dbSNP: rs3804749
rs3804749 		3 123114156 intron variant C/T snv 0.48
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs920900
rs920900 		3 123126824 intron variant C/G snv 0.52
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11720822
rs11720822 		0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs11720822
rs11720822 		0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs11720822
rs11720822 		0.882 0.040 3 123150194 intron variant C/T snv 8.6E-02 6.6E-02
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2292661
rs2292661 		1.000 0.080 3 123150263 missense variant C/G;T snv 8.2E-04
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2292661
rs2292661 		1.000 0.080 3 123150263 missense variant C/G;T snv 8.2E-04
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2292661
rs2292661 		1.000 0.080 3 123150263 missense variant C/G;T snv 8.2E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017