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: 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: 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: 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: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.020 1.000 2 2010 2016
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 0.500 2 2013 2015
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 < 0.001 2 2007 2013
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C0940937
Disease: precancerous lesions
precancerous lesions 		0.010 1.000 1 2016 2016
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C0677898
Disease: invasive cancer
invasive cancer 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C0018939
Disease: Hematological Disease
Hematological Disease 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs5030383
rs5030383 		19 10286167 3 prime UTR variant C/A;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0677898
Disease: invasive cancer
invasive cancer 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C2363973
Disease: Chronic thromboembolic pulmonary hypertension
Chronic thromboembolic pulmonary hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0338437
Disease: Neurocysticercosis
Neurocysticercosis 		Infections; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2018 2018
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: C0848771
Disease: neurological disability
neurological disability 		0.010 1.000 1 2017 2017
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C4023106
Disease: Obstructive azoospermia
Obstructive azoospermia 		Male Urogenital Diseases 0.010 1.000 1 2019 2019
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