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: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2009 2009
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
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
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: C0031099
Disease: Periodontitis
Periodontitis
Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
Infections 0.010 < 0.001 1 2018 2018
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: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
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: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
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: 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: C0031099
Disease: Periodontitis
Periodontitis
Stomatognathic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
Malignant neoplasm of colon stage IV
Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007