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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs2298383

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr22:24429543 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.47828 (60057/125568, TOPMED)
T=0.4894 (15332/31326, GnomAD)
T=0.401 (2006/5008, 1000G) (+ 4 more)
C=0.395 (1770/4480, Estonian)
C=0.421 (1623/3854, ALSPAC)
C=0.423 (1570/3708, TWINSUK)
C=0.42 (254/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ADORA2A-AS1 : Non Coding Transcript Variant
ADORA2A : Intron Variant
SPECC1L-ADORA2A : Intron Variant
Publications
21 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 22 NC_000022.11:g.24429543C>A
GRCh38.p12 chr 22 NC_000022.11:g.24429543C>T
GRCh37.p13 chr 22 NC_000022.10:g.24825511C>A
GRCh37.p13 chr 22 NC_000022.10:g.24825511C>T
ADORA2A RefSeqGene NG_052804.1:g.10947C>A
ADORA2A RefSeqGene NG_052804.1:g.10947C>T
Gene: ADORA2A, adenosine A2a receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ADORA2A transcript variant 3 NM_000675.6:c. N/A Intron Variant
ADORA2A transcript variant 4 NM_001278499.2:c. N/A Intron Variant
ADORA2A transcript variant 5 NM_001278500.1:c. N/A Intron Variant
ADORA2A transcript variant 1 NM_001278497.1:c. N/A Genic Upstream Transcript Variant
ADORA2A transcript variant 2 NM_001278498.1:c. N/A Genic Upstream Transcript Variant
ADORA2A transcript variant 6 NR_103543.2:n. N/A Intron Variant
ADORA2A transcript variant 7 NR_103544.2:n. N/A Intron Variant
Gene: ADORA2A-AS1, ADORA2A antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADORA2A-AS1 transcript variant 1 NR_028484.3:n.2494G>T N/A Non Coding Transcript Variant
ADORA2A-AS1 transcript variant 1 NR_028484.3:n.2494G>A N/A Non Coding Transcript Variant
ADORA2A-AS1 transcript variant 2 NR_028483.2:n. N/A Genic Downstream Transcript Variant
Gene: SPECC1L-ADORA2A, SPECC1L-ADORA2A readthrough (NMD candidate) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SPECC1L-ADORA2A transcript NR_103546.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: T (allele ID: 227811 )
ClinVar Accession Disease Names Clinical Significance
RCV000660765.1 caffeine response - Toxicity/ADR Drug-Response
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.52172 T=0.47828
gnomAD - Genomes Global Study-wide 31326 C=0.5106 T=0.4894
gnomAD - Genomes European Sub 18864 C=0.4214 T=0.5786
gnomAD - Genomes African Sub 8692 C=0.718 T=0.282
gnomAD - Genomes East Asian Sub 1552 C=0.518 T=0.482
gnomAD - Genomes Other Sub 1084 C=0.470 T=0.530
gnomAD - Genomes American Sub 846 C=0.41 T=0.59
gnomAD - Genomes Ashkenazi Jewish Sub 288 C=0.49 T=0.51
1000Genomes Global Study-wide 5008 C=0.599 T=0.401
1000Genomes African Sub 1322 C=0.781 T=0.219
1000Genomes East Asian Sub 1008 C=0.530 T=0.470
1000Genomes Europe Sub 1006 C=0.414 T=0.586
1000Genomes South Asian Sub 978 C=0.70 T=0.30
1000Genomes American Sub 694 C=0.48 T=0.52
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.395 T=0.605
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.421 T=0.579
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.423 T=0.577
Northern Sweden ACPOP Study-wide 600 C=0.42 T=0.58
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A T Note
GRCh38.p12 chr 22 NC_000022.11:g.24...

NC_000022.11:g.24429543=

NC_000022.11:g.24...

NC_000022.11:g.24429543C>A

NC_000022.11:g.24...

NC_000022.11:g.24429543C>T

GRCh37.p13 chr 22 NC_000022.10:g.24...

NC_000022.10:g.24825511=

NC_000022.10:g.24...

NC_000022.10:g.24825511C>A

NC_000022.10:g.24...

NC_000022.10:g.24825511C>T

ADORA2A RefSeqGene NG_052804.1:g.10947= NG_052804.1:g.109...

NG_052804.1:g.10947C>A

NG_052804.1:g.109...

NG_052804.1:g.10947C>T

ADORA2A-AS1 transcript variant 1 NR_028484.3:n.2494= NR_028484.3:n.249...

NR_028484.3:n.2494G>T

NR_028484.3:n.249...

NR_028484.3:n.2494G>A

ADORA2A-AS1 transcript variant 1 NR_028484.1:n.223...

NR_028484.1:n.2235A>G

NR_028484.1:n.223...

NR_028484.1:n.2235A>T

NR_028484.1:n.2235=
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

94 SubSNP, 7 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3243196 Sep 28, 2001 (100)
2 SC_SNP ss8013389 Apr 21, 2003 (114)
3 SC_SNP ss13364951 Dec 05, 2003 (119)
4 SSAHASNP ss21854678 Apr 05, 2004 (121)
5 ILLUMINA ss65741784 Oct 13, 2006 (127)
6 ILLUMINA ss74869467 Dec 07, 2007 (129)
7 HGSV ss78168710 Dec 07, 2007 (129)
8 HGSV ss82076792 Dec 15, 2007 (130)
9 HGSV ss82445877 Dec 15, 2007 (130)
10 HUMANGENOME_JCVI ss96095061 Feb 05, 2009 (130)
11 BGI ss106220893 Feb 05, 2009 (130)
12 1000GENOMES ss112574668 Jan 25, 2009 (130)
13 ILLUMINA-UK ss117373460 Feb 14, 2009 (130)
14 KRIBB_YJKIM ss119429564 Dec 01, 2009 (131)
15 ENSEMBL ss143522870 Dec 01, 2009 (131)
16 GMI ss157075823 Dec 01, 2009 (131)
17 ILLUMINA ss160532735 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss167752243 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss171866333 Jul 04, 2010 (132)
20 ILLUMINA ss173270612 Jul 04, 2010 (132)
21 BUSHMAN ss204060828 Jul 04, 2010 (132)
22 1000GENOMES ss228634761 Jul 14, 2010 (132)
23 1000GENOMES ss238034607 Jul 15, 2010 (132)
24 1000GENOMES ss244161807 Jul 15, 2010 (132)
25 ILLUMINA ss244289694 Jul 04, 2010 (132)
26 BL ss255860294 May 09, 2011 (134)
27 GMI ss283602584 May 04, 2012 (137)
28 GMI ss287554905 Apr 25, 2013 (138)
29 PJP ss292743146 May 09, 2011 (134)
30 ILLUMINA ss480519889 May 04, 2012 (137)
31 ILLUMINA ss480534574 May 04, 2012 (137)
32 ILLUMINA ss481345387 Sep 08, 2015 (146)
33 ILLUMINA ss485057268 May 04, 2012 (137)
34 ILLUMINA ss537073720 Sep 08, 2015 (146)
35 TISHKOFF ss566581468 Apr 25, 2013 (138)
36 SSMP ss662510766 Apr 25, 2013 (138)
37 ILLUMINA ss778491202 Sep 08, 2015 (146)
38 ILLUMINA ss782974857 Sep 08, 2015 (146)
39 ILLUMINA ss783936109 Sep 08, 2015 (146)
40 ILLUMINA ss832231240 Sep 08, 2015 (146)
41 ILLUMINA ss833947206 Sep 08, 2015 (146)
42 EVA-GONL ss995257798 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1082592827 Aug 21, 2014 (142)
44 1000GENOMES ss1366821162 Aug 21, 2014 (142)
45 DDI ss1429231567 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1579717346 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1639813411 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1682807444 Apr 01, 2015 (144)
49 EVA_DECODE ss1699325940 Apr 01, 2015 (144)
50 EVA_SVP ss1713733638 Apr 01, 2015 (144)
51 ILLUMINA ss1752415632 Sep 08, 2015 (146)
52 HAMMER_LAB ss1809749255 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1938824280 Feb 12, 2016 (147)
54 ILLUMINA ss1946581054 Feb 12, 2016 (147)
55 ILLUMINA ss1959969907 Feb 12, 2016 (147)
56 GENOMED ss1969253994 Jul 19, 2016 (147)
57 JJLAB ss2030184235 Sep 14, 2016 (149)
58 CLINVAR ss2137497455 Feb 23, 2017 (149)
59 USC_VALOUEV ss2158796828 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2246649943 Dec 20, 2016 (150)
61 TOPMED ss2413556540 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2629590454 Nov 08, 2017 (151)
63 ILLUMINA ss2633866234 Nov 08, 2017 (151)
64 GRF ss2704545478 Nov 08, 2017 (151)
65 ILLUMINA ss2710953513 Nov 08, 2017 (151)
66 GNOMAD ss2973410537 Nov 08, 2017 (151)
67 SWEGEN ss3019159023 Nov 08, 2017 (151)
68 ILLUMINA ss3022176151 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3028929344 Nov 08, 2017 (151)
70 CSHL ss3352795755 Nov 08, 2017 (151)
71 TOPMED ss3374939979 Nov 08, 2017 (151)
72 ILLUMINA ss3625800386 Oct 12, 2018 (152)
73 ILLUMINA ss3628512572 Oct 12, 2018 (152)
74 ILLUMINA ss3631818202 Oct 12, 2018 (152)
75 ILLUMINA ss3633269750 Oct 12, 2018 (152)
76 ILLUMINA ss3633985310 Oct 12, 2018 (152)
77 ILLUMINA ss3634862609 Oct 12, 2018 (152)
78 ILLUMINA ss3635669843 Oct 12, 2018 (152)
79 ILLUMINA ss3636558476 Oct 12, 2018 (152)
80 ILLUMINA ss3637422067 Oct 12, 2018 (152)
81 ILLUMINA ss3638376767 Oct 12, 2018 (152)
82 ILLUMINA ss3640569909 Oct 12, 2018 (152)
83 ILLUMINA ss3643336981 Oct 12, 2018 (152)
84 ILLUMINA ss3644797393 Oct 12, 2018 (152)
85 URBANLAB ss3651161083 Oct 12, 2018 (152)
86 ILLUMINA ss3652637960 Oct 12, 2018 (152)
87 EGCUT_WGS ss3685661143 Jul 13, 2019 (153)
88 EVA_DECODE ss3708021187 Jul 13, 2019 (153)
89 ACPOP ss3743854224 Jul 13, 2019 (153)
90 ILLUMINA ss3744205446 Jul 13, 2019 (153)
91 ILLUMINA ss3745162430 Jul 13, 2019 (153)
92 EVA ss3759273488 Jul 13, 2019 (153)
93 ILLUMINA ss3772658415 Jul 13, 2019 (153)
94 KHV_HUMAN_GENOMES ss3822440078 Jul 13, 2019 (153)
95 1000Genomes NC_000022.10 - 24825511 Oct 12, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 24825511 Oct 12, 2018 (152)
97 Genetic variation in the Estonian population NC_000022.10 - 24825511 Oct 12, 2018 (152)
98 gnomAD - Genomes NC_000022.10 - 24825511 Jul 13, 2019 (153)
99 Northern Sweden NC_000022.10 - 24825511 Jul 13, 2019 (153)
100 TopMed NC_000022.11 - 24429543 Oct 12, 2018 (152)
101 UK 10K study - Twins NC_000022.10 - 24825511 Oct 12, 2018 (152)
102 ClinVar RCV000660765.1 Oct 12, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs59635240 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2137497455 NC_000022.11:24429542:C:A NC_000022.11:24429542:C:A (self)
ss78168710, ss82076792, ss82445877 NC_000022.8:23150064:C:T NC_000022.11:24429542:C:T (self)
ss112574668, ss117373460, ss167752243, ss171866333, ss204060828, ss255860294, ss283602584, ss287554905, ss292743146, ss480519889, ss1699325940, ss1713733638, ss3643336981 NC_000022.9:23155510:C:T NC_000022.11:24429542:C:T (self)
80360335, 44448073, 31399391, 219195987, 17139089, 44448073, ss228634761, ss238034607, ss244161807, ss480534574, ss481345387, ss485057268, ss537073720, ss566581468, ss662510766, ss778491202, ss782974857, ss783936109, ss832231240, ss833947206, ss995257798, ss1082592827, ss1366821162, ss1429231567, ss1579717346, ss1639813411, ss1682807444, ss1752415632, ss1809749255, ss1938824280, ss1946581054, ss1959969907, ss1969253994, ss2030184235, ss2158796828, ss2413556540, ss2629590454, ss2633866234, ss2704545478, ss2710953513, ss2973410537, ss3019159023, ss3022176151, ss3352795755, ss3625800386, ss3628512572, ss3631818202, ss3633269750, ss3633985310, ss3634862609, ss3635669843, ss3636558476, ss3637422067, ss3638376767, ss3640569909, ss3644797393, ss3652637960, ss3685661143, ss3743854224, ss3744205446, ss3745162430, ss3759273488, ss3772658415 NC_000022.10:24825510:C:T NC_000022.11:24429542:C:T (self)
RCV000660765.1, 238138627, ss2246649943, ss3028929344, ss3374939979, ss3651161083, ss3708021187, ss3822440078 NC_000022.11:24429542:C:T NC_000022.11:24429542:C:T (self)
ss13364951, ss21854678 NT_011520.9:4216079:C:T NC_000022.11:24429542:C:T (self)
ss3243196, ss8013389, ss65741784, ss74869467, ss96095061, ss106220893, ss119429564, ss143522870, ss157075823, ss160532735, ss173270612, ss244289694 NT_011520.12:4216079:C:T NC_000022.11:24429542:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

21 citations for rs2298383
PMID Title Author Year Journal
18305461 Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. Childs E et al. 2008 Neuropsychopharmacology
18539621 Polymorphisms within the adenosine receptor 2a gene are associated with adverse events in RA patients treated with MTX. Hider SL et al. 2008 Rheumatology (Oxford, England)
20334879 Adenosine A(2A) receptor gene: evidence for association of risk variants with panic disorder and anxious personality. Hohoff C et al. 2010 Journal of psychiatric research
20520601 Association of the anxiogenic and alerting effects of caffeine with ADORA2A and ADORA1 polymorphisms and habitual level of caffeine consumption. Rogers PJ et al. 2010 Neuropsychopharmacology
20532872 Genetics of caffeine consumption and responses to caffeine. Yang A et al. 2010 Psychopharmacology
22336631 Caffeine increases tear volume depending on polymorphisms within the adenosine A2a receptor gene and cytochrome P450 1A2. Arita R et al. 2012 Ophthalmology
22616673 Global tests of P-values for multifactor dimensionality reduction models in selection of optimal number of target genes. Dai H et al. 2012 BioData mining
22992668 Pharmacogenomics knowledge for personalized medicine. Whirl-Carrillo M et al. 2012 Clinical pharmacology and therapeutics
23294634 Risk score modeling of multiple gene to gene interactions using aggregated-multifactor dimensionality reduction. Dai H et al. 2013 BioData mining
23535492 ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticus. Shinohara M et al. 2013 Neurology
25819021 A review of pharmacogenetic studies of substance-related disorders. Jones JD et al. 2015 Drug and alcohol dependence
25872644 Is there a role for ADORA2A polymorphisms in levodopa-induced dyskinesia in Parkinson's disease patients? Rieck M et al. 2015 Pharmacogenomics
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. Gugliandolo A et al. 2016 Neuromolecular medicine
27399166 Influence of ADORA2A gene polymorphism on leukoencephalopathy risk in MTX-treated pediatric patients affected by hematological malignancies. Tsujimoto S et al. 2016 Pediatric blood & cancer
27676277 Moving toward personalized medicine in rheumatoid arthritis: SNPs in methotrexate intracellular pathways are associated with methotrexate therapeutic outcome. Lima A et al. 2016 Pharmacogenomics
27846189 The plausible association of MTHFR and ADORA2A polymorphisms with nodules in rheumatoid arthritis patients treated with methotrexate. Soukup T et al. 2017 Pharmacogenetics and genomics
28358597 Common genetic polymorphisms of adenosine A2A receptor do not influence response to regadenoson. Berlacher M et al. 2017 Pharmacogenomics
28927418 A systematic review and integrative approach to decode the common molecular link between levodopa response and Parkinson's disease. Guin D et al. 2017 BMC medical genomics
30511252 Impact of genetic variations in ADORA2A gene on depression and symptoms: a cross-sectional population-based study. Oliveira S et al. 2019 Purinergic signalling
30946941 Synergistic effects between ADORA2A and DRD2 genes on anxiety disorders in children with ADHD. Fraporti TT et al. 2019 Progress in neuro-psychopharmacology & biological psychiatry
31140226 ADORA2A Polymorphisms Influence Methotrexate Adverse Events in Rheumatoid Arthritis. Kobold N et al. 2019 The Israel Medical Association journal

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post246+3cda961