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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.


Current Build 151

Released July 17, 2018

Homo sapiens
chr11:113420866 (GRCh38.p7) 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.

Variation Type
SNV Single Nucleotide Variation
A=0.42880 (53843/125568, TOPMED)
A=0.4321 (13339/30868, GnomAD)
A=0.291 (1458/5008, 1000G) (+ 2 more)
G=0.379 (1459/3854, ALSPAC)
G=0.394 (1461/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DRD2 : Intron Variant
20 citations
Genomic View
See rs on genome

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.p7 chr 11 NC_000011.10:g.113420866G>A
GRCh37.p13 chr 11 NC_000011.9:g.113291588G>A
DRD2 RefSeqGene NG_008841.1:g.59414C>T
Gene: DRD2, dopamine receptor D2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DRD2 transcript variant 1 NM_000795.3:c. N/A Intron Variant
DRD2 transcript variant 2 NM_016574.3:c. N/A Intron Variant
DRD2 transcript variant X1 XM_017017296.1:c. N/A Intron Variant

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.

Not Reported in ClinVar

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").

Study Population Group Sample Size Ref Allele Alt Allele
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.57120 A=0.42880
The Genome Aggregation Database Global Study-wide 30868 G=0.5679 A=0.4321
The Genome Aggregation Database European Sub 18434 G=0.4322 A=0.5678
The Genome Aggregation Database African Sub 8696 G=0.794 A=0.206
The Genome Aggregation Database East Asian Sub 1620 G=0.945 A=0.055
The Genome Aggregation Database Other Sub 980 G=0.47 A=0.53
The Genome Aggregation Database American Sub 836 G=0.68 A=0.32
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.33 A=0.67
1000Genomes Global Study-wide 5008 G=0.709 A=0.291
1000Genomes African Sub 1322 G=0.852 A=0.148
1000Genomes East Asian Sub 1008 G=0.936 A=0.064
1000Genomes Europe Sub 1006 G=0.387 A=0.613
1000Genomes South Asian Sub 978 G=0.67 A=0.33
1000Genomes American Sub 694 G=0.62 A=0.38
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.379 A=0.621
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.394 A=0.606

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 G= A Note
GRCh38.p7 chr 11 NC_000011.10:g.113420866G= NC_000011.10:g.11342086...


GRCh37.p13 chr 11 NC_000011.9:g.113291588G= NC_000011.9:g.113291588G>A
DRD2 RefSeqGene NG_008841.1:g.59414C= NG_008841.1:g.59414C>T

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#.

5 Frequency, 55 SubSNP submissions
No Submitter Submission ID Date (Build)
1 HGBASE ss2420599 Nov 14, 2000 (89)
2 SC_JCM ss3860731 Sep 28, 2001 (100)
3 PSU-ANTH ss4387022 Apr 11, 2002 (104)
4 KIDDLAB ss6312580 Feb 20, 2003 (111)
5 WI_SSAHASNP ss12152572 Jul 11, 2003 (116)
6 SC_SNP ss15979880 Feb 27, 2004 (120)
7 SSAHASNP ss20742120 Apr 05, 2004 (121)
8 PERLEGEN ss24551733 Sep 20, 2004 (123)
9 ABI ss38713355 Mar 14, 2006 (126)
10 HGSV ss77661830 Dec 07, 2007 (129)
11 BCMHGSC_JDW ss88801304 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss97419000 Feb 04, 2009 (130)
13 1000GENOMES ss111100851 Jan 25, 2009 (130)
14 ENSEMBL ss132838781 Dec 01, 2009 (131)
15 ENSEMBL ss137852090 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss168755833 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss175282688 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss207739450 Jul 04, 2010 (132)
19 1000GENOMES ss225469673 Jul 14, 2010 (132)
20 1000GENOMES ss235724819 Jul 15, 2010 (132)
21 1000GENOMES ss242321890 Jul 15, 2010 (132)
22 BL ss255384368 May 09, 2011 (134)
23 GMI ss281176585 May 04, 2012 (137)
24 GMI ss286460521 Apr 25, 2013 (138)
25 PJP ss291142871 May 09, 2011 (134)
26 ILLUMINA ss536992308 Sep 08, 2015 (146)
27 TISHKOFF ss562835435 Apr 25, 2013 (138)
28 SSMP ss658358490 Apr 25, 2013 (138)
29 ILLUMINA ss778697559 Sep 08, 2015 (146)
30 ILLUMINA ss834156414 Sep 08, 2015 (146)
31 EVA-GONL ss988978407 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1078056601 Aug 21, 2014 (142)
33 1000GENOMES ss1343024957 Aug 21, 2014 (142)
34 DDI ss1426765577 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1575961605 Apr 01, 2015 (144)
36 EVA_DECODE ss1598644439 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1627494517 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1670488550 Apr 01, 2015 (144)
39 WEILL_CORNELL_DGM ss1932339556 Feb 12, 2016 (147)
40 GENOMED ss1967462540 Jul 19, 2016 (147)
41 JJLAB ss2026913675 Sep 14, 2016 (149)
42 USC_VALOUEV ss2155226204 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2185829957 Dec 20, 2016 (150)
44 TOPMED ss2349420381 Dec 20, 2016 (150)
45 ILLUMINA ss2632889079 Nov 08, 2017 (151)
46 ILLUMINA ss2635030583 Nov 08, 2017 (151)
47 GRF ss2699536368 Nov 08, 2017 (151)
48 GNOMAD ss2904624965 Nov 08, 2017 (151)
49 AFFY ss2985599065 Nov 08, 2017 (151)
50 SWEGEN ss3008803725 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3027257517 Nov 08, 2017 (151)
52 TOPMED ss3156779091 Nov 08, 2017 (151)
53 CSHL ss3349801628 Nov 08, 2017 (151)
54 ILLUMINA ss3626753155 Jul 20, 2018 (151)
55 ILLUMINA ss3630902947 Jul 20, 2018 (151)
56 1000Genomes NC_000011.9 - 113291588 Jul 20, 2018 (151)
57 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 113291588 Jul 20, 2018 (151)
58 The Genome Aggregation Database NC_000011.9 - 113291588 Jul 20, 2018 (151)
59 Trans-Omics for Precision Medicine NC_000011.10 - 113420866 Jul 20, 2018 (151)
60 UK 10K study - Twins NC_000011.9 - 113291588 Jul 20, 2018 (151)

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)
rs17505442 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77661830, ss88801304, ss111100851, ss168755833, ss175282688, ss207739450, ss255384368, ss281176585, ss286460521, ss291142871, ss1598644439, ss2635030583 NC_000011.8:112796797:G= NC_000011.10:113420865:G= (self)
55609396, 30867002, 38326487, 30867002, ss225469673, ss235724819, ss242321890, ss536992308, ss562835435, ss658358490, ss778697559, ss834156414, ss988978407, ss1078056601, ss1343024957, ss1426765577, ss1575961605, ss1627494517, ss1670488550, ss1932339556, ss1967462540, ss2026913675, ss2155226204, ss2349420381, ss2632889079, ss2699536368, ss2904624965, ss2985599065, ss3008803725, ss3349801628, ss3626753155, ss3630902947 NC_000011.9:113291587:G= NC_000011.10:113420865:G= (self)
72750577, ss2185829957, ss3027257517, ss3156779091 NC_000011.10:113420865:G= NC_000011.10:113420865:G= (self)
ss12152572 NT_033899.5:16835263:G= NC_000011.10:113420865:G= (self)
ss15979880, ss20742120 NT_033899.6:16835373:G= NC_000011.10:113420865:G= (self)
ss2420599, ss3860731, ss4387022, ss6312580, ss24551733, ss38713355, ss97419000, ss132838781, ss137852090 NT_033899.8:16854003:G= NC_000011.10:113420865:G= (self)
ss77661830, ss88801304, ss111100851, ss168755833, ss175282688, ss207739450, ss255384368, ss281176585, ss286460521, ss291142871, ss1598644439, ss2635030583 NC_000011.8:112796797:G>A NC_000011.10:113420865:G>A (self)
55609396, 30867002, 38326487, 30867002, ss225469673, ss235724819, ss242321890, ss536992308, ss562835435, ss658358490, ss778697559, ss834156414, ss988978407, ss1078056601, ss1343024957, ss1426765577, ss1575961605, ss1627494517, ss1670488550, ss1932339556, ss1967462540, ss2026913675, ss2155226204, ss2349420381, ss2632889079, ss2699536368, ss2904624965, ss2985599065, ss3008803725, ss3349801628, ss3626753155, ss3630902947 NC_000011.9:113291587:G>A NC_000011.10:113420865:G>A (self)
72750577, ss2185829957, ss3027257517, ss3156779091 NC_000011.10:113420865:G>A NC_000011.10:113420865:G>A (self)
ss12152572 NT_033899.5:16835263:G>A NC_000011.10:113420865:G>A (self)
ss15979880, ss20742120 NT_033899.6:16835373:G>A NC_000011.10:113420865:G>A (self)
ss2420599, ss3860731, ss4387022, ss6312580, ss24551733, ss38713355, ss97419000, ss132838781, ss137852090 NT_033899.8:16854003:G>A NC_000011.10:113420865:G>A (self)

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

20 citations for rs1800498
PMID Title Author Year Journal
15660291 Population structure, admixture, and aging-related phenotypes in African American adults: the Cardiovascular Health Study. Reiner AP et al. 2005 American journal of human genetics
18154681 A lesson not learned: allele misassignment. Sand PG et al. 2007 Behavioral and brain functions
18305461 Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. Childs E et al. 2008 Neuropsychopharmacology
18654799 Exploration of the utility of ancestry informative markers for genetic association studies of African Americans with type 2 diabetes and end stage renal disease. Keene KL et al. 2008 Human genetics
19309284 Haplotype diversity and linkage disequilibrium at DRD2 locus--a study on four population groups of Andhra Pradesh, India. Saraswathy KN et al. 2009 Genetic testing and molecular biomarkers
19793394 Haplotype frequencies at the DRD2 locus in populations of the East European Plain. Flegontova OV et al. 2009 BMC genetics
20021678 Evaluation of self-reported ethnicity in a case-control population: the stroke prevention in young women study. Mez JB et al. 2009 BMC research notes
20205808 Association between dopaminergic polymorphisms and borderline personality traits among at-risk young adults and psychiatric inpatients. Nemoda Z et al. 2010 Behavioral and brain functions
20549395 Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies. Cornelis MC et al. 2010 Current psychiatry reports
21273692 Comparing genetic ancestry and self-reported race/ethnicity in a multiethnic population in New York City. Lee YL et al. 2010 Journal of genetics
21519536 No Evidence for an Association between Dopamine D2 Receptor Polymorphisms and Tardive Dyskinesia in Korean Schizophrenia Patients. Park YM et al. 2011 Psychiatry investigation
21592109 Wide disparity in genetic admixture among Mexican Americans from San Antonio, TX. Beuten J et al. 2011 Annals of human genetics
21754915 Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans. Kang G et al. 2011 Frontiers in genetics
22559203 DRD2 and PPP1R1B (DARPP-32) polymorphisms independently confer increased risk for autism spectrum disorders and additively predict affected status in male-only affected sib-pair families. Hettinger JA et al. 2012 Behavioral and brain functions
22963930 Custom genotyping for substance addiction susceptibility genes in Jordanians of Arab descent. Al-Eitan LN et al. 2012 BMC research notes
23856854 Positive effects of methylphenidate on hyperactivity are moderated by monoaminergic gene variants in children with autism spectrum disorders. McCracken JT et al. 2014 The pharmacogenomics journal
25658328 Polymorphism in the serotonin receptor 2a (HTR2A) gene as possible predisposal factor for aggressive traits. Banlaki Z et al. 2015 PloS one
26044620 Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction. Reyes-Gibby CC et al. 2015 BMC systems biology
26970175 Analysis of ANKKI (rs1800497) and DRD2 (rs1079597, rs1800498) variants in five ethnic groups from Punjab, North-West India. Singh G et al. 2016 Gene
28854834 DRD2 and ANKK1 genes associate with late-onset heroin dependence in men. Tsou CC et al. 2017 The world journal of biological psychiatry

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: 0.1.4.post833+d3ba21e