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: rs4265482
rs4265482 		1 169758741 intron variant T/C snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: 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: 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: 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: 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: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 1999 2019
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: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.020 1.000 2 2012 2018
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 1999 2019
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