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: 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: rs2205849
rs2205849 		1 169712216 intron variant T/C snv 0.19
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs6427212
rs6427212 		1 169719900 intron variant G/A snv 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
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
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2009 2009
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: 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: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5355
rs5355 		0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular 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: 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