OAS1 Chromosome 12

2'-5'-oligoadenylate synthetase 1
22 variants 22 Health Risk

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What This Gene Does
This interferon-induced gene encodes a protein that synthesizes 2',5'-oligoadenylates (2-5As). This protein plays a key role in innate cellular antiviral response, and has been implicated in other cellular processes like cell growth and apoptosis. Alternative splicing results in multiple transcript variants with different enzymatic activities. Polymorphisms in this gene have been associated with susceptibility to viral infection, including SARS-CoV-2, and diabetes mellitus, type 1. This gene is located in a cluster of related genes on chromosome 12. [provided by RefSeq, May 2022]
Gene Info
Gene Group
2'-5'-oligoadenylate synthetase family
Locus Type
gene with protein product
Location
12q24.13
Ensembl
ENSG00000089127
Associated Conditions (2)
Pulmonary alveolar proteinosis with hypogammaglobulinemia
OAS1-related disorder
Key Variants
All Variants (22)
RSID Category Clinical Significance Conditions
RS138105298 Health Risk Conflicting classifications of pathogenicity
RS138921278 Health Risk Conflicting classifications of pathogenicity Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS140799151 Health Risk Conflicting classifications of pathogenicity
RS142314177 Health Risk Conflicting classifications of pathogenicity Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS142847241 Health Risk Conflicting classifications of pathogenicity
RS146339735 Health Risk Conflicting classifications of pathogenicity OAS1-related disorder, OAS1-related disorder
RS148741042 Health Risk Conflicting classifications of pathogenicity
RS148820389 Health Risk Conflicting classifications of pathogenicity Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS201971047 Health Risk Conflicting classifications of pathogenicity
RS2043462968 Health Risk Conflicting classifications of pathogenicity
RS2136321241 Health Risk Conflicting classifications of pathogenicity
RS372813548 Health Risk Conflicting classifications of pathogenicity
RS373282263 Health Risk Conflicting classifications of pathogenicity
RS527675104 Health Risk Conflicting classifications of pathogenicity
RS528923373 Health Risk Conflicting classifications of pathogenicity
RS766882379 Health Risk Conflicting classifications of pathogenicity
RS768335993 Health Risk Conflicting classifications of pathogenicity
RS770540128 Health Risk Conflicting classifications of pathogenicity
RS779611860 Health Risk Conflicting classifications of pathogenicity
RS779775183 Health Risk Conflicting classifications of pathogenicity
RS1555223390 Health Risk Likely pathogenic Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
RS2136295939 Health Risk Pathogenic Pulmonary alveolar proteinosis with hypogammaglobulinemia, Pulmonary alveolar proteinosis with hypogammaglobulinemia
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