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: rs16862512
rs16862512
1 169680550 intron variant T/C snv 3.0E-03
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement
0.700 1.000 1 2019 2019
dbSNP: rs7531806
rs7531806
1.000 0.040 1 169681903 intron variant G/A snv 0.61
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs185120584
rs185120584
1 169689987 intron variant C/T snv 7.6E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2019 2019
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: rs4987358
rs4987358
1 169696410 intron variant G/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 2 2018 2018
dbSNP: rs2223286
rs2223286
1 169696491 intron variant T/C snv 0.29 0.38
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2011 2012
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease
Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.010 < 0.001 1 2003 2003
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2229569
rs2229569
0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
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