rs2298383
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 2 | increased anxiety in response to caffeine |
| (C;T) | 0 | |
| (T;T) | 0 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 24429543 |
| Gene | ADORA2A, ADORA2A-AS1, SPECC1L-ADORA2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2298383 |
| dbSNP (classic) | rs2298383 |
| ClinGen | rs2298383 |
| ebi | rs2298383 |
| HLI | rs2298383 |
| Exac | rs2298383 |
| Gnomad | rs2298383 |
| Varsome | rs2298383 |
| LitVar | rs2298383 |
| Map | rs2298383 |
| PheGenI | rs2298383 |
| Biobank | rs2298383 |
| 1000 genomes | rs2298383 |
| hgdp | rs2298383 |
| ensembl | rs2298383 |
| geneview | rs2298383 |
| scholar | rs2298383 |
| rs2298383 | |
| pharmgkb | rs2298383 |
| gwascentral | rs2298383 |
| openSNP | rs2298383 |
| 23andMe | rs2298383 |
| SNPshot | rs2298383 |
| SNPdbe | rs2298383 |
| MSV3d | rs2298383 |
| GWAS Ctlg | rs2298383 |
| GMAF | 0.4816 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
Variation at this SNP, rs2298383, appears to influence how an individual responds to moderate levels (150mg) of caffeine.[PMID 18305461
]
[PMID 20334879] Adenosine A(2A) receptor gene: Evidence for association of risk variants with panic disorder and anxious personality
[PMID 22336631] Caffeine increases tear volume depending on polymorphisms within the adenosine A2a receptor gene and cytochrome P450 1A2.
[PMID 23535492] ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus
[PMID 26589317] The RS685012 Polymorphism of ACCN2, the Human Ortholog of Murine Acid-Sensing Ion Channel (ASIC1) Gene, is Highly Represented in Patients with Panic Disorder
| ClinVar | |
|---|---|
| Risk | rs2298383(A;A) Rs2298383(T;T) |
| Alt | rs2298383(A;A) Rs2298383(T;T) |
| Reference | Rs2298383(C;C) |
| Significance | Drug-response |
| Disease | caffeine response - Toxicity/ADR |
| Variation | info |
| Gene | SPECC1L-ADORA2A ADORA2A-AS1 ADORA2A |
| CLNDBN | caffeine response - Toxicity/ADR |
| Reversed | 0 |
| HGVS | NC_000022.10:g.24825511C>A |
| CLNSRC | PharmGKB Clinical Annotation PharmGKB |
| CLNACC | RCV000417154.1, |
[PMID 30511252] Impact of genetic variations in ADORA2A gene on depression and symptoms: a cross-sectional population-based study.
[PMID 31817803] The Impact of Genetic Variations in ADORA2A in the Association between Caffeine Consumption and Sleep.
[PMID 32182774] The SNP rs2298383 Reduces ADORA2A Gene Transcription and Positively Associates with Cytokine Production by Peripheral Blood Mononuclear Cells in Patients with Multiple Chemical Sensitivity.
[PMID 32615857] The influence of coffee intake and genetics on adenosine pathway in rheumatoid arthritis.
