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: 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
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.030 0.667 3 2006 2009
dbSNP: rs11066452
rs11066452
12 112923769 intron variant G/T snv 0.75
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs11066453
rs11066453
1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03
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
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: 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: rs4767027
rs4767027
12 112921352 intron variant T/C snv 0.76
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs11066453
rs11066453
1.000 0.080 12 112927816 intron variant A/G snv 3.8E-03
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 1 2013 2013