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: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.050 0.600 5 2000 2019
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0032533
Disease: Polymyalgia Rheumatica
Polymyalgia Rheumatica 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2000 2000
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.040 0.750 4 2001 2015
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 0.500 2 2001 2015
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C1306889
Disease: Peripheral arterial occlusive disease
Peripheral arterial occlusive disease 		Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.060 1.000 6 2003 2015
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.050 1.000 5 2003 2019
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.050 0.600 5 2003 2016
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.030 0.333 3 2003 2018
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 0.500 2 2003 2005
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 0.500 2 2003 2003
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.060 0.833 6 2004 2018
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		Digestive System Diseases 0.020 1.000 2 2004 2006
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2004 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2004 2016
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.090 0.778 9 2005 2019
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2005 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2005 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0022346
Disease: Icterus
Icterus 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2005 2005
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.060 0.500 6 2006 2018
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.050 1.000 5 2006 2018