STING1 Chromosome 5
Stimulator of interferon response cGAMP interactor 1
Upload your DNA to see your personal genotypes for variants in STING1.
What This Gene Does
This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Associated Conditions (4)
STING-associated vasculopathy with onset in infancy
Autoinflammatory syndrome
Inborn genetic diseases
STING1-related disorder
Key Variants
RS117897081
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS140011636
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING1-related disorder
Health Risk
RS141830680
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS142609349
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING1-related disorder
Health Risk
RS144683867
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy
Health Risk
RS148833313
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, Autoinflammatory syndrome
Health Risk
RS149528532
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy
Health Risk
RS181566154
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS201096097
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING1-related disorder
Health Risk
RS368419459
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy
Health Risk
RS370524913
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy
Health Risk
RS750077345
Conflicting classifications of pathogenicity
STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING-associated vasculopathy with onset in infancy
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117897081 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, Inborn genetic diseases |
| RS140011636 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING1-related disorder |
| RS141830680 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, Inborn genetic diseases |
| RS142609349 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING1-related disorder |
| RS144683867 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS148833313 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, Autoinflammatory syndrome |
| RS149528532 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS181566154 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, Inborn genetic diseases |
| RS201096097 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING1-related disorder |
| RS368419459 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS370524913 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS750077345 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING-associated vasculopathy with onset in infancy |
| RS755245286 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS756770138 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Inborn genetic diseases, Autoinflammatory syndrome |
| RS759123296 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS759930084 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS760161824 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS761439213 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING-associated vasculopathy with onset in infancy |
| RS763523329 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS766819764 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS768799195 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Autoinflammatory syndrome, STING-associated vasculopathy with onset in infancy |
| RS769494344 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS780099523 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS780666926 | Health Risk | Conflicting classifications of pathogenicity | STING-associated vasculopathy with onset in infancy, Inborn genetic diseases, STING-associated vasculopathy with onset in infancy |
| RS2152094234 | Health Risk | Likely pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS2547063044 | Health Risk | Likely pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS2547063045 | Health Risk | Likely pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS2547062066 | Health Risk | Pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS587777609 | Health Risk | Pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS587777610 | Health Risk | Pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS587777611 | Health Risk | Pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS1561482476 | Health Risk | Pathogenic/Likely pathogenic | STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |