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: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C3553462
Disease: INFLUENZA, SEVERE, SUSCEPTIBILITY TO
INFLUENZA, SEVERE, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0021400
Disease: Influenza
Influenza 		Infections; Respiratory Tract Diseases 0.100 0.833 18 2012 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C2062441
Disease: Influenza A
Influenza A 		0.040 0.750 4 2014 2017
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.040 1.000 4 2013 2018
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0858004
Disease: Influenza A virus infection
Influenza A virus infection 		Infections; Respiratory Tract Diseases 0.020 1.000 2 2017 2018
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0748355
Disease: Acute respiratory distress
Acute respiratory distress 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0032285
Disease: Pneumonia
Pneumonia 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0011311
Disease: Dengue Fever
Dengue Fever 		Infections 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0019101
Disease: Hemorrhagic Fever with Renal Syndrome
Hemorrhagic Fever with Renal Syndrome 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C3665951
Disease: Influenza due to Influenza A virus subtype H7N9
Influenza due to Influenza A virus subtype H7N9 		0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		0.010 1.000 1 2018 2018
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0155870
Disease: Pneumonia and influenza
Pneumonia and influenza 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C0149725
Disease: Lower respiratory tract infection
Lower respiratory tract infection 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12252
rs12252 		0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2015 2015
dbSNP: rs34481144
rs34481144 		1.000 0.080 11 320836 5 prime UTR variant C/T snv 0.36 0.34
CUI: C0021400
Disease: Influenza
Influenza 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2017 2017