OAS1, 2'-5'-oligoadenylate synthetase 1, 4938

N. diseases: 72; N. variants: 11
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: rs11352835
rs11352835 		1.000 0.080 12 112931911 frameshift variant A/- del 0.74
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs11066453
rs11066453 		1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs11066453
rs11066453 		1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11066453
rs11066453 		1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03
CUI: C0202035
Disease: Gamma glutamyl transferase measurement
Gamma glutamyl transferase measurement 		0.700 1.000 1 2011 2011
dbSNP: rs11066453
rs11066453 		1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2240190
rs2240190 		1.000 0.040 12 112908322 intron variant C/A snv 4.9E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs34137742
rs34137742 		0.925 0.080 12 112910856 intron variant C/T snv 0.13
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs34137742
rs34137742 		0.925 0.080 12 112910856 intron variant C/T snv 0.13
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4766676
rs4766676 		12 112927776 intron variant C/T snv 0.75
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2660
rs2660 		0.851 0.160 12 112919637 missense variant G/A snv 0.71 0.75
CUI: C0035920
Disease: Rubella
Rubella 		Infections 0.010 1.000 1 2010 2010
dbSNP: rs2660
rs2660 		0.851 0.160 12 112919637 missense variant G/A snv 0.71 0.75
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2660
rs2660 		0.851 0.160 12 112919637 missense variant G/A snv 0.71 0.75
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2660
rs2660 		0.851 0.160 12 112919637 missense variant G/A snv 0.71 0.75
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.667 3 2006 2009
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2015
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.020 1.000 2 2017 2017
dbSNP: rs3741981
rs3741981 		0.882 0.120 12 112911065 missense variant G/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.020 1.000 2 2013 2015
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0042769
Disease: Virus Diseases
Virus Diseases 		Infections 0.010 1.000 1 2017 2017
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2018 2018
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2016 2016
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0008055
Disease: Chikungunya Fever
Chikungunya Fever 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0018572
Disease: Hand, Foot and Mouth Disease
Hand, Foot and Mouth Disease 		Infections 0.010 1.000 1 2014 2014
dbSNP: rs10774671
rs10774671 		0.732 0.480 12 112919388 splice acceptor variant G/A;C snv 0.67
CUI: C0275524
Disease: Coinfection
Coinfection 		Infections 0.010 1.000 1 2016 2016