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: 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: 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: 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: 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: 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: 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: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2006 2006
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0002949
Disease: Aneurysm, Dissecting
Aneurysm, Dissecting 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0860564
Disease: Retinoic acid syndrome
Retinoic acid syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2007 2007
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C1619727
Disease: Decompensated cirrhosis of liver
Decompensated cirrhosis of liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0002965
Disease: Angina, Unstable
Angina, Unstable 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2009 2009
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		Neoplasms 0.010 1.000 1 2009 2009