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: rs1805193
rs1805193 		1.000 0.040 1 169733631 5 prime UTR variant C/A snv 8.3E-02 7.8E-02
CUI: C2937365
Disease: Recurrent aphthous ulcer
Recurrent aphthous ulcer 		Stomatognathic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2076059
rs2076059 		1.000 0.080 1 169729780 intron variant C/T snv 0.36
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C0021845
Disease: Intestinal Perforation
Intestinal Perforation 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C0280252
Disease: stage, colon cancer
stage, colon cancer 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		0.010 1.000 1 2014 2014
dbSNP: rs3917412
rs3917412 		1.000 0.040 1 169731361 intron variant T/A;C;G snv
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2014 2014
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: rs754829637
rs754829637 		1.000 0.040 1 169728058 missense variant C/A;T snv 4.1E-06; 4.1E-06
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 1.000 1 2015 2015
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: rs5368
rs5368 		0.882 0.160 1 169727805 missense variant G/A snv 0.14 0.11
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5368
rs5368 		0.882 0.160 1 169727805 missense variant G/A snv 0.14 0.11
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5368
rs5368 		0.882 0.160 1 169727805 missense variant G/A snv 0.14 0.11
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5368
rs5368 		0.882 0.160 1 169727805 missense variant G/A snv 0.14 0.11
CUI: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 0.010 1.000 1 2013 2013
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: rs2229569
rs2229569 		0.790 0.360 1 169704697 missense variant G/A;T snv 0.21; 3.2E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
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