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: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2005 2009
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.020 1.000 2 2005 2009
dbSNP: rs12938
rs12938 		0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12938
rs12938 		0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12938
rs12938 		0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12938
rs12938 		0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs12938
rs12938 		0.851 0.160 1 169691640 3 prime UTR variant A/G snv 0.27
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2005 2005
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0376618
Disease: Endotoxemia
Endotoxemia 		Pathological Conditions, Signs and Symptoms; Infections 0.010 1.000 1 2005 2005
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2006 2014
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2014
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2006 2014
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0006309
Disease: Brucellosis
Brucellosis 		Infections 0.010 1.000 1 2006 2006
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1131498
rs1131498 		0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5361
rs5361 		0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1458766475
rs1458766475 		0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2007 2009