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: 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: 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: 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
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune 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: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 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: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0042384
Disease: Vasculitis
Vasculitis 		Cardiovascular Diseases 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: 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 2012 2012
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: 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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012