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rs2298383

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 increased anxiety in response to caffeine
(C;T) 0
(T;T) 0
ReferenceGRCh38 38.1/141
Chromosome22
Position24429543
GeneADORA2A, SPECC1L-ADORA2A
is asnp
is mentioned by
dbSNPrs2298383
ebirs2298383
HLIrs2298383
Exacrs2298383
Varsomers2298383
Maprs2298383
PheGenIrs2298383
hapmaprs2298383
1000 genomesrs2298383
hgdprs2298383
ensemblrs2298383
gopubmedrs2298383
geneviewrs2298383
scholarrs2298383
googlers2298383
pharmgkbrs2298383
gwascentralrs2298383
openSNPrs2298383
23andMers2298383
23andMe allrs2298383
SNP Nexus

SNPshotrs2298383
SNPdbers2298383
MSV3drs2298383
GWAS Ctlgrs2298383
GMAF0.4816
Max Magnitude2
? (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 18305461OA-icon.png]


[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.


GET Evidence
rs2298383
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.460938
summary



[PMID 23535492OA-icon.png] 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(T;T)
Alt 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>T
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211283.1,