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: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism 		0.030 1.000 3 2017 2019
dbSNP: rs1080985
rs1080985 		0.925 0.080 22 42132375 non coding transcript exon variant G/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2009 2012
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.020 0.500 2 2009 2010
dbSNP: rs16947
rs16947 		0.882 0.040 22 42127941 missense variant G/A;T snv
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		Eye Diseases 0.020 0.500 2 2009 2010
dbSNP: rs16947
rs16947 		0.882 0.040 22 42127941 missense variant G/A;T snv
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.020 1.000 2 2009 2010
dbSNP: rs1080985
rs1080985 		0.925 0.080 22 42132375 non coding transcript exon variant G/A;C snv
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism 		0.010 1.000 1 2012 2012
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1135840
rs1135840 		0.807 0.200 22 42126611 missense variant C/G snv 0.58
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1288779666
rs1288779666 		1.000 0.120 22 42128944 missense variant C/G snv
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs1288779666
rs1288779666 		1.000 0.120 22 42128944 missense variant C/G snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
dbSNP: rs1303946678
rs1303946678 		0.925 0.040 22 42126851 missense variant C/G snv
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1303946678
rs1303946678 		0.925 0.040 22 42126851 missense variant C/G snv
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1303946678
rs1303946678 		0.925 0.040 22 42126851 missense variant C/G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1447119000
rs1447119000 		0.925 0.120 22 42130763 missense variant G/A snv
CUI: C3714760
Disease: Drug-induced tardive dyskinesia
Drug-induced tardive dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders 0.010 1.000 1 2008 2008
dbSNP: rs1447119000
rs1447119000 		0.925 0.120 22 42130763 missense variant G/A snv
CUI: C0686347
Disease: Tardive Dyskinesia
Tardive Dyskinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1473203326
rs1473203326 		1.000 0.120 22 42128215 missense variant G/A snv
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs16947
rs16947 		0.882 0.040 22 42127941 missense variant G/A;T snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs16947
rs16947 		0.882 0.040 22 42127941 missense variant G/A;T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs16947
rs16947 		0.882 0.040 22 42127941 missense variant G/A;T snv
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism 		0.010 1.000 1 2019 2019
dbSNP: rs76060075
rs76060075 		1.000 0.120 22 42129185 missense variant C/G snv
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
dbSNP: rs76060075
rs76060075 		1.000 0.120 22 42129185 missense variant C/G snv
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016