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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

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.

rs167771

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:114157428 (GRCh38.p14) 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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.196987 (65904/334560, ALFA)
G=0.372228 (98525/264690, TOPMED)
G=0.359186 (50235/139858, GnomAD) (+ 22 more)
G=0.48084 (37841/78698, PAGE_STUDY)
G=0.19035 (5379/28258, 14KJPN)
G=0.18866 (3162/16760, 8.3KJPN)
G=0.4199 (2689/6404, 1000G_30x)
G=0.4113 (2060/5008, 1000G)
G=0.1665 (746/4480, Estonian)
G=0.1655 (638/3854, ALSPAC)
G=0.1575 (584/3708, TWINSUK)
G=0.1509 (442/2930, KOREAN)
G=0.3167 (660/2084, HGDP_Stanford)
G=0.4698 (888/1890, HapMap)
G=0.1588 (291/1832, Korea1K)
G=0.2646 (299/1130, Daghestan)
G=0.178 (178/998, GoNL)
G=0.178 (141/790, PRJEB37584)
G=0.262 (157/600, NorthernSweden)
G=0.194 (90/464, SGDP_PRJ)
G=0.370 (80/216, Qatari)
G=0.205 (43/210, Vietnamese)
G=0.19 (14/72, Ancient Sardinia)
G=0.13 (7/54, Siberian)
G=0.07 (3/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
DRD3 : Intron Variant
Publications
25 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 334776 G=0.197018 A=0.802982, T=0.000000
European Sub 289664 G=0.170850 A=0.829150, T=0.000000
African Sub 9716 G=0.7860 A=0.2140, T=0.0000
African Others Sub 368 G=0.883 A=0.117, T=0.000
African American Sub 9348 G=0.7822 A=0.2178, T=0.0000
Asian Sub 6818 G=0.1850 A=0.8150, T=0.0000
East Asian Sub 4904 G=0.1731 A=0.8269, T=0.0000
Other Asian Sub 1914 G=0.2153 A=0.7847, T=0.0000
Latin American 1 Sub 1014 G=0.3590 A=0.6410, T=0.0000
Latin American 2 Sub 6660 G=0.2721 A=0.7279, T=0.0000
South Asian Sub 5146 G=0.3508 A=0.6492, T=0.0000
Other Sub 15758 G=0.22776 A=0.77224, T=0.00000


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
Allele Frequency Aggregator Total Global 334560 G=0.196987 A=0.803013, T=0.000000
Allele Frequency Aggregator European Sub 289484 G=0.170845 A=0.829155, T=0.000000
Allele Frequency Aggregator Other Sub 15736 G=0.22763 A=0.77237, T=0.00000
Allele Frequency Aggregator African Sub 9702 G=0.7857 A=0.2143, T=0.0000
Allele Frequency Aggregator Asian Sub 6818 G=0.1850 A=0.8150, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6660 G=0.2721 A=0.7279, T=0.0000
Allele Frequency Aggregator South Asian Sub 5146 G=0.3508 A=0.6492, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1014 G=0.3590 A=0.6410, T=0.0000
TopMed Global Study-wide 264690 G=0.372228 A=0.627772
gnomAD - Genomes Global Study-wide 139858 G=0.359186 A=0.640814
gnomAD - Genomes European Sub 75796 G=0.17358 A=0.82642
gnomAD - Genomes African Sub 41850 G=0.74925 A=0.25075
gnomAD - Genomes American Sub 13618 G=0.27559 A=0.72441
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.1946 A=0.8054
gnomAD - Genomes East Asian Sub 3126 G=0.1820 A=0.8180
gnomAD - Genomes Other Sub 2144 G=0.3512 A=0.6488
The PAGE Study Global Study-wide 78698 G=0.48084 A=0.51916
The PAGE Study AfricanAmerican Sub 32516 G=0.73256 A=0.26744
The PAGE Study Mexican Sub 10808 G=0.27840 A=0.72160
The PAGE Study Asian Sub 8318 G=0.1999 A=0.8001
The PAGE Study PuertoRican Sub 7918 G=0.3728 A=0.6272
The PAGE Study NativeHawaiian Sub 4534 G=0.2978 A=0.7022
The PAGE Study Cuban Sub 4230 G=0.2882 A=0.7118
The PAGE Study Dominican Sub 3828 G=0.4956 A=0.5044
The PAGE Study CentralAmerican Sub 2450 G=0.3000 A=0.7000
The PAGE Study SouthAmerican Sub 1982 G=0.2588 A=0.7412
The PAGE Study NativeAmerican Sub 1260 G=0.2730 A=0.7270
The PAGE Study SouthAsian Sub 854 G=0.397 A=0.603
14KJPN JAPANESE Study-wide 28258 G=0.19035 A=0.80965
8.3KJPN JAPANESE Study-wide 16760 G=0.18866 A=0.81134
1000Genomes_30x Global Study-wide 6404 G=0.4199 A=0.5801
1000Genomes_30x African Sub 1786 G=0.8427 A=0.1573
1000Genomes_30x Europe Sub 1266 G=0.1983 A=0.8017
1000Genomes_30x South Asian Sub 1202 G=0.3835 A=0.6165
1000Genomes_30x East Asian Sub 1170 G=0.1752 A=0.8248
1000Genomes_30x American Sub 980 G=0.272 A=0.728
1000Genomes Global Study-wide 5008 G=0.4113 A=0.5887
1000Genomes African Sub 1322 G=0.8434 A=0.1566
1000Genomes East Asian Sub 1008 G=0.1706 A=0.8294
1000Genomes Europe Sub 1006 G=0.1968 A=0.8032
1000Genomes South Asian Sub 978 G=0.396 A=0.604
1000Genomes American Sub 694 G=0.271 A=0.729
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.1665 A=0.8335
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1655 A=0.8345
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1575 A=0.8425
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1509 A=0.8491, C=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.3167 A=0.6833
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.140 A=0.860
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.309 A=0.691
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.331 A=0.669
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.194 A=0.806
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.851 A=0.149
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.264 A=0.736
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.35 A=0.65
HapMap Global Study-wide 1890 G=0.4698 A=0.5302
HapMap American Sub 770 G=0.313 A=0.687
HapMap African Sub 692 G=0.821 A=0.179
HapMap Asian Sub 252 G=0.163 A=0.837
HapMap Europe Sub 176 G=0.216 A=0.784
Korean Genome Project KOREAN Study-wide 1832 G=0.1588 A=0.8412
Genome-wide autozygosity in Daghestan Global Study-wide 1130 G=0.2646 A=0.7354
Genome-wide autozygosity in Daghestan Daghestan Sub 622 G=0.240 A=0.760
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.319 A=0.681
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.254 A=0.746
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.139 A=0.861
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.51 A=0.49
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.22 A=0.78
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.178 A=0.822
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.178 A=0.822
CNV burdens in cranial meningiomas CRM Sub 790 G=0.178 A=0.822
Northern Sweden ACPOP Study-wide 600 G=0.262 A=0.738
SGDP_PRJ Global Study-wide 464 G=0.194 A=0.806
Qatari Global Study-wide 216 G=0.370 A=0.630
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.205 A=0.795
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 G=0.19 A=0.81
Siberian Global Study-wide 54 G=0.13 A=0.87
The Danish reference pan genome Danish Study-wide 40 G=0.07 A=0.93
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.p14 chr 3 NC_000003.12:g.114157428G>A
GRCh38.p14 chr 3 NC_000003.12:g.114157428G>C
GRCh38.p14 chr 3 NC_000003.12:g.114157428G>T
GRCh37.p13 chr 3 NC_000003.11:g.113876275G>A
GRCh37.p13 chr 3 NC_000003.11:g.113876275G>C
GRCh37.p13 chr 3 NC_000003.11:g.113876275G>T
DRD3 RefSeqGene NG_008842.2:g.46980C>T
DRD3 RefSeqGene NG_008842.2:g.46980C>G
DRD3 RefSeqGene NG_008842.2:g.46980C>A
Gene: DRD3, dopamine receptor D3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DRD3 transcript variant a NM_000796.6:c.383+2327C>T N/A Intron Variant
DRD3 transcript variant f NM_001282563.2:c.383+2327…

NM_001282563.2:c.383+2327C>T

N/A Intron Variant
DRD3 transcript variant g NM_001290809.1:c.383+2327…

NM_001290809.1:c.383+2327C>T

N/A Intron Variant
DRD3 transcript variant e NM_033663.6:c.383+2327C>T 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: A (allele ID: 500408 )
ClinVar Accession Disease Names Clinical Significance
RCV000607974.1 not specified Benign
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 G= A C T
GRCh38.p14 chr 3 NC_000003.12:g.114157428= NC_000003.12:g.114157428G>A NC_000003.12:g.114157428G>C NC_000003.12:g.114157428G>T
GRCh37.p13 chr 3 NC_000003.11:g.113876275= NC_000003.11:g.113876275G>A NC_000003.11:g.113876275G>C NC_000003.11:g.113876275G>T
DRD3 RefSeqGene NG_008842.2:g.46980= NG_008842.2:g.46980C>T NG_008842.2:g.46980C>G NG_008842.2:g.46980C>A
DRD3 transcript variant a NM_000796.3:c.383+2327= NM_000796.3:c.383+2327C>T NM_000796.3:c.383+2327C>G NM_000796.3:c.383+2327C>A
DRD3 transcript variant a NM_000796.6:c.383+2327= NM_000796.6:c.383+2327C>T NM_000796.6:c.383+2327C>G NM_000796.6:c.383+2327C>A
DRD3 transcript variant f NM_001282563.2:c.383+2327= NM_001282563.2:c.383+2327C>T NM_001282563.2:c.383+2327C>G NM_001282563.2:c.383+2327C>A
DRD3 transcript variant g NM_001290809.1:c.383+2327= NM_001290809.1:c.383+2327C>T NM_001290809.1:c.383+2327C>G NM_001290809.1:c.383+2327C>A
DRD3 transcript variant e NM_033663.3:c.383+2327= NM_033663.3:c.383+2327C>T NM_033663.3:c.383+2327C>G NM_033663.3:c.383+2327C>A
DRD3 transcript variant e NM_033663.6:c.383+2327= NM_033663.6:c.383+2327C>T NM_033663.6:c.383+2327C>G NM_033663.6:c.383+2327C>A
DRD3 transcript variant X1 XM_005247170.1:c.383+2327= XM_005247170.1:c.383+2327C>T XM_005247170.1:c.383+2327C>G XM_005247170.1:c.383+2327C>A
DRD3 transcript variant X2 XM_005247171.1:c.383+2327= XM_005247171.1:c.383+2327C>T XM_005247171.1:c.383+2327C>G XM_005247171.1:c.383+2327C>A
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#.

155 SubSNP, 25 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 KWOK ss223752 Jul 12, 2000 (79)
2 KWOK ss990398 Oct 04, 2000 (86)
3 KWOK ss1938347 Oct 18, 2000 (87)
4 SC_JCM ss3743501 Sep 28, 2001 (100)
5 SC_SNP ss15533551 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss16979956 Feb 27, 2004 (120)
7 SSAHASNP ss21962189 Apr 05, 2004 (121)
8 PERLEGEN ss23345916 Sep 20, 2004 (123)
9 ABI ss44384163 Mar 15, 2006 (126)
10 ILLUMINA ss65789961 Oct 15, 2006 (127)
11 ILLUMINA ss66640833 Nov 30, 2006 (127)
12 ILLUMINA ss67146350 Nov 30, 2006 (127)
13 ILLUMINA ss67488198 Nov 30, 2006 (127)
14 PERLEGEN ss68872166 May 17, 2007 (127)
15 ILLUMINA ss70447926 May 17, 2007 (127)
16 ILLUMINA ss70639147 May 25, 2008 (130)
17 ILLUMINA ss71190236 May 17, 2007 (127)
18 ILLUMINA ss75538869 Dec 06, 2007 (129)
19 HGSV ss78077051 Dec 06, 2007 (129)
20 KRIBB_YJKIM ss83374709 Dec 15, 2007 (130)
21 BCMHGSC_JDW ss92243109 Mar 24, 2008 (129)
22 HUMANGENOME_JCVI ss99123909 Feb 05, 2009 (130)
23 BGI ss106290195 Feb 05, 2009 (130)
24 1000GENOMES ss112376018 Jan 25, 2009 (130)
25 ILLUMINA ss121774103 Dec 01, 2009 (131)
26 ENSEMBL ss135544208 Dec 01, 2009 (131)
27 ENSEMBL ss139106557 Dec 01, 2009 (131)
28 ILLUMINA ss153549691 Dec 01, 2009 (131)
29 GMI ss156059774 Dec 01, 2009 (131)
30 ILLUMINA ss159291837 Dec 01, 2009 (131)
31 ILLUMINA ss160382650 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss167061585 Jul 04, 2010 (132)
33 ILLUMINA ss170707989 Jul 04, 2010 (132)
34 ILLUMINA ss172615359 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss206008154 Jul 04, 2010 (132)
36 1000GENOMES ss211251190 Jul 14, 2010 (132)
37 1000GENOMES ss220364700 Jul 14, 2010 (132)
38 1000GENOMES ss231985905 Jul 14, 2010 (132)
39 1000GENOMES ss239367258 Jul 15, 2010 (132)
40 BL ss253407866 May 09, 2011 (134)
41 GMI ss277302873 May 04, 2012 (137)
42 GMI ss284726768 Apr 25, 2013 (138)
43 PJP ss292890730 May 09, 2011 (134)
44 ILLUMINA ss480064198 May 04, 2012 (137)
45 ILLUMINA ss480072948 May 04, 2012 (137)
46 ILLUMINA ss480747831 Sep 08, 2015 (146)
47 ILLUMINA ss484829997 May 04, 2012 (137)
48 EXOME_CHIP ss491344349 May 04, 2012 (137)
49 ILLUMINA ss536905641 Sep 08, 2015 (146)
50 TISHKOFF ss556872023 Apr 25, 2013 (138)
51 SSMP ss650581625 Apr 25, 2013 (138)
52 ILLUMINA ss778441983 Sep 08, 2015 (146)
53 ILLUMINA ss780796506 Sep 08, 2015 (146)
54 ILLUMINA ss782861571 Sep 08, 2015 (146)
55 ILLUMINA ss783477739 Sep 08, 2015 (146)
56 ILLUMINA ss783825883 Sep 08, 2015 (146)
57 ILLUMINA ss825416659 Apr 01, 2015 (144)
58 ILLUMINA ss832115600 Sep 08, 2015 (146)
59 ILLUMINA ss832803944 Jul 13, 2019 (153)
60 ILLUMINA ss833897526 Sep 08, 2015 (146)
61 EVA-GONL ss979037246 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1070742401 Aug 21, 2014 (142)
63 1000GENOMES ss1305682830 Aug 21, 2014 (142)
64 HAMMER_LAB ss1397348812 Sep 08, 2015 (146)
65 DDI ss1429549239 Apr 01, 2015 (144)
66 EVA_GENOME_DK ss1580133583 Apr 01, 2015 (144)
67 EVA_DECODE ss1588517163 Apr 01, 2015 (144)
68 EVA_UK10K_ALSPAC ss1607961750 Apr 01, 2015 (144)
69 EVA_UK10K_TWINSUK ss1650955783 Apr 01, 2015 (144)
70 EVA_SVP ss1712603643 Apr 01, 2015 (144)
71 ILLUMINA ss1752432859 Sep 08, 2015 (146)
72 ILLUMINA ss1752432860 Sep 08, 2015 (146)
73 ILLUMINA ss1917771060 Feb 12, 2016 (147)
74 WEILL_CORNELL_DGM ss1922265490 Feb 12, 2016 (147)
75 ILLUMINA ss1946092413 Feb 12, 2016 (147)
76 ILLUMINA ss1958595176 Feb 12, 2016 (147)
77 GENOMED ss1969495028 Jul 19, 2016 (147)
78 JJLAB ss2021698731 Sep 14, 2016 (149)
79 USC_VALOUEV ss2149790566 Dec 20, 2016 (150)
80 HUMAN_LONGEVITY ss2254879361 Dec 20, 2016 (150)
81 SYSTEMSBIOZJU ss2625352029 Nov 08, 2017 (151)
82 ILLUMINA ss2633996846 Nov 08, 2017 (151)
83 ILLUMINA ss2633996847 Nov 08, 2017 (151)
84 GRF ss2705192642 Nov 08, 2017 (151)
85 ILLUMINA ss2710982610 Nov 08, 2017 (151)
86 GNOMAD ss2797778386 Nov 08, 2017 (151)
87 AFFY ss2985266468 Nov 08, 2017 (151)
88 AFFY ss2985887460 Nov 08, 2017 (151)
89 SWEGEN ss2993004331 Nov 08, 2017 (151)
90 ILLUMINA ss3022275082 Nov 08, 2017 (151)
91 BIOINF_KMB_FNS_UNIBA ss3024616011 Nov 08, 2017 (151)
92 CSHL ss3345210857 Nov 08, 2017 (151)
93 ILLUMINA ss3625823372 Oct 12, 2018 (152)
94 ILLUMINA ss3628748524 Oct 12, 2018 (152)
95 ILLUMINA ss3628748525 Oct 12, 2018 (152)
96 ILLUMINA ss3631940556 Oct 12, 2018 (152)
97 ILLUMINA ss3633304646 Oct 12, 2018 (152)
98 ILLUMINA ss3634022154 Oct 12, 2018 (152)
99 ILLUMINA ss3634911412 Oct 12, 2018 (152)
100 ILLUMINA ss3634911413 Oct 12, 2018 (152)
101 ILLUMINA ss3635705830 Oct 12, 2018 (152)
102 ILLUMINA ss3636607686 Oct 12, 2018 (152)
103 ILLUMINA ss3637458222 Oct 12, 2018 (152)
104 ILLUMINA ss3638435139 Oct 12, 2018 (152)
105 ILLUMINA ss3639220685 Oct 12, 2018 (152)
106 ILLUMINA ss3639628963 Oct 12, 2018 (152)
107 ILLUMINA ss3640618711 Oct 12, 2018 (152)
108 ILLUMINA ss3640618712 Oct 12, 2018 (152)
109 ILLUMINA ss3643390641 Oct 12, 2018 (152)
110 ILLUMINA ss3644825039 Oct 12, 2018 (152)
111 URBANLAB ss3647501455 Oct 12, 2018 (152)
112 ILLUMINA ss3652752984 Oct 12, 2018 (152)
113 ILLUMINA ss3654035461 Oct 12, 2018 (152)
114 EGCUT_WGS ss3660927408 Jul 13, 2019 (153)
115 EVA_DECODE ss3710059369 Jul 13, 2019 (153)
116 ILLUMINA ss3726046648 Jul 13, 2019 (153)
117 ACPOP ss3730247328 Jul 13, 2019 (153)
118 ILLUMINA ss3744514365 Jul 13, 2019 (153)
119 ILLUMINA ss3745211385 Jul 13, 2019 (153)
120 ILLUMINA ss3745211386 Jul 13, 2019 (153)
121 EVA ss3760544256 Jul 13, 2019 (153)
122 PAGE_CC ss3771055806 Jul 13, 2019 (153)
123 ILLUMINA ss3772706697 Jul 13, 2019 (153)
124 ILLUMINA ss3772706698 Jul 13, 2019 (153)
125 PACBIO ss3784431081 Jul 13, 2019 (153)
126 PACBIO ss3789930343 Jul 13, 2019 (153)
127 PACBIO ss3794804755 Jul 13, 2019 (153)
128 KHV_HUMAN_GENOMES ss3803681833 Jul 13, 2019 (153)
129 EVA ss3828015341 Apr 25, 2020 (154)
130 EVA ss3837440106 Apr 25, 2020 (154)
131 EVA ss3842870119 Apr 25, 2020 (154)
132 HGDP ss3847720053 Apr 25, 2020 (154)
133 SGDP_PRJ ss3856723404 Apr 25, 2020 (154)
134 KRGDB ss3902705931 Apr 25, 2020 (154)
135 KOGIC ss3952177383 Apr 25, 2020 (154)
136 EVA ss3984513362 Apr 27, 2021 (155)
137 EVA ss3985013851 Apr 27, 2021 (155)
138 TOPMED ss4579531257 Apr 27, 2021 (155)
139 TOMMO_GENOMICS ss5161049762 Apr 27, 2021 (155)
140 1000G_HIGH_COVERAGE ss5255618949 Oct 12, 2022 (156)
141 EVA ss5314884428 Oct 12, 2022 (156)
142 EVA ss5342516995 Oct 12, 2022 (156)
143 HUGCELL_USP ss5454807521 Oct 12, 2022 (156)
144 1000G_HIGH_COVERAGE ss5534846001 Oct 12, 2022 (156)
145 SANFORD_IMAGENETICS ss5624527937 Oct 12, 2022 (156)
146 SANFORD_IMAGENETICS ss5632959022 Oct 12, 2022 (156)
147 TOMMO_GENOMICS ss5693770229 Oct 12, 2022 (156)
148 EVA ss5799588933 Oct 12, 2022 (156)
149 YY_MCH ss5804141694 Oct 12, 2022 (156)
150 EVA ss5826322614 Oct 12, 2022 (156)
151 EVA ss5847223981 Oct 12, 2022 (156)
152 EVA ss5847977286 Oct 12, 2022 (156)
153 EVA ss5853787124 Oct 12, 2022 (156)
154 EVA ss5870532045 Oct 12, 2022 (156)
155 EVA ss5961294691 Oct 12, 2022 (156)
156 1000Genomes NC_000003.11 - 113876275 Oct 12, 2018 (152)
157 1000Genomes_30x NC_000003.12 - 114157428 Oct 12, 2022 (156)
158 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 113876275 Oct 12, 2018 (152)
159 Genome-wide autozygosity in Daghestan NC_000003.10 - 115358965 Apr 25, 2020 (154)
160 Genetic variation in the Estonian population NC_000003.11 - 113876275 Oct 12, 2018 (152)
161 The Danish reference pan genome NC_000003.11 - 113876275 Apr 25, 2020 (154)
162 gnomAD - Genomes NC_000003.12 - 114157428 Apr 27, 2021 (155)
163 Genome of the Netherlands Release 5 NC_000003.11 - 113876275 Apr 25, 2020 (154)
164 HGDP-CEPH-db Supplement 1 NC_000003.10 - 115358965 Apr 25, 2020 (154)
165 HapMap NC_000003.12 - 114157428 Apr 25, 2020 (154)
166 KOREAN population from KRGDB NC_000003.11 - 113876275 Apr 25, 2020 (154)
167 Korean Genome Project NC_000003.12 - 114157428 Apr 25, 2020 (154)
168 Northern Sweden NC_000003.11 - 113876275 Jul 13, 2019 (153)
169 The PAGE Study NC_000003.12 - 114157428 Jul 13, 2019 (153)
170 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 113876275 Apr 27, 2021 (155)
171 CNV burdens in cranial meningiomas NC_000003.11 - 113876275 Apr 27, 2021 (155)
172 Qatari NC_000003.11 - 113876275 Apr 25, 2020 (154)
173 SGDP_PRJ NC_000003.11 - 113876275 Apr 25, 2020 (154)
174 Siberian NC_000003.11 - 113876275 Apr 25, 2020 (154)
175 8.3KJPN NC_000003.11 - 113876275 Apr 27, 2021 (155)
176 14KJPN NC_000003.12 - 114157428 Oct 12, 2022 (156)
177 TopMed NC_000003.12 - 114157428 Apr 27, 2021 (155)
178 UK 10K study - Twins NC_000003.11 - 113876275 Oct 12, 2018 (152)
179 A Vietnamese Genetic Variation Database NC_000003.11 - 113876275 Jul 13, 2019 (153)
180 ALFA NC_000003.12 - 114157428 Apr 27, 2021 (155)
181 ClinVar RCV000607974.1 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)
rs59234015 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78077051, ss3639220685, ss3639628963 NC_000003.9:115358964:G:A NC_000003.12:114157427:G:A (self)
324667, 397945, ss92243109, ss112376018, ss167061585, ss206008154, ss211251190, ss253407866, ss277302873, ss284726768, ss292890730, ss480064198, ss825416659, ss1397348812, ss1588517163, ss1712603643, ss3643390641, ss3847720053 NC_000003.10:115358964:G:A NC_000003.12:114157427:G:A (self)
16928986, 9424880, 6665656, 6298522, 4142076, 9883325, 3532193, 239778, 62710, 4307420, 8740384, 2306920, 19019069, 9424880, 2053708, ss220364700, ss231985905, ss239367258, ss480072948, ss480747831, ss484829997, ss491344349, ss536905641, ss556872023, ss650581625, ss778441983, ss780796506, ss782861571, ss783477739, ss783825883, ss832115600, ss832803944, ss833897526, ss979037246, ss1070742401, ss1305682830, ss1429549239, ss1580133583, ss1607961750, ss1650955783, ss1752432859, ss1752432860, ss1917771060, ss1922265490, ss1946092413, ss1958595176, ss1969495028, ss2021698731, ss2149790566, ss2625352029, ss2633996846, ss2633996847, ss2705192642, ss2710982610, ss2797778386, ss2985266468, ss2985887460, ss2993004331, ss3022275082, ss3345210857, ss3625823372, ss3628748524, ss3628748525, ss3631940556, ss3633304646, ss3634022154, ss3634911412, ss3634911413, ss3635705830, ss3636607686, ss3637458222, ss3638435139, ss3640618711, ss3640618712, ss3644825039, ss3652752984, ss3654035461, ss3660927408, ss3730247328, ss3744514365, ss3745211385, ss3745211386, ss3760544256, ss3772706697, ss3772706698, ss3784431081, ss3789930343, ss3794804755, ss3828015341, ss3837440106, ss3856723404, ss3902705931, ss3984513362, ss3985013851, ss5161049762, ss5314884428, ss5342516995, ss5624527937, ss5632959022, ss5799588933, ss5826322614, ss5847223981, ss5847977286, ss5961294691 NC_000003.11:113876274:G:A NC_000003.12:114157427:G:A (self)
RCV000607974.1, 22371936, 120369719, 2436805, 8555384, 277275, 27607333, 416908812, 9336930539, ss2254879361, ss3024616011, ss3647501455, ss3710059369, ss3726046648, ss3771055806, ss3803681833, ss3842870119, ss3952177383, ss4579531257, ss5255618949, ss5454807521, ss5534846001, ss5693770229, ss5804141694, ss5853787124, ss5870532045 NC_000003.12:114157427:G:A NC_000003.12:114157427:G:A (self)
ss15533551, ss16979956, ss21962189 NT_005612.14:20371420:G:A NC_000003.12:114157427:G:A (self)
ss223752, ss990398, ss1938347, ss3743501, ss23345916, ss44384163, ss65789961, ss66640833, ss67146350, ss67488198, ss68872166, ss70447926, ss70639147, ss71190236, ss75538869, ss83374709, ss99123909, ss106290195, ss121774103, ss135544208, ss139106557, ss153549691, ss156059774, ss159291837, ss160382650, ss170707989, ss172615359 NT_005612.16:20371420:G:A NC_000003.12:114157427:G:A (self)
9883325, ss3902705931 NC_000003.11:113876274:G:C NC_000003.12:114157427:G:C (self)
9883325, ss3902705931 NC_000003.11:113876274:G:T NC_000003.12:114157427:G:T (self)
9336930539 NC_000003.12:114157427:G:T NC_000003.12:114157427:G:T (self)
Help

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

25 citations for rs167771
PMID Title Author Year Journal
18330705 Physiogenomic analysis of localized FMRI brain activity in schizophrenia. Windemuth A et al. 2008 Annals of biomedical engineering
18821566 SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families. Kollins SH et al. 2008 American journal of medical genetics. Part B, Neuropsychiatric genetics
19058789 A common variant in DRD3 receptor is associated with autism spectrum disorder. de Krom M et al. 2009 Biological psychiatry
19506579 A common variant in DRD3 gene is associated with risperidone-induced extrapyramidal symptoms. Gassó P et al. 2009 The pharmacogenomics journal
20148275 Shared heritability of attention-deficit/hyperactivity disorder and autism spectrum disorder. Rommelse NN et al. 2010 European child & adolescent psychiatry
20619616 Searching for functional SNPs or rare variants in exonic regions of DRD3 in risperidone-treated patients. Gassó P et al. 2011 European neuropsychopharmacology
21691864 Brief report: the dopamine-3-receptor gene (DRD3) is associated with specific repetitive behavior in autism spectrum disorder (ASD). Staal WG et al. 2012 Journal of autism and developmental disorders
22021758 Interaction of early environment, gender and genes of monoamine neurotransmission in the aetiology of depression in a large population-based Finnish birth cohort. Nyman ES et al. 2011 BMJ open
22309839 Association study of 45 candidate genes in nicotine dependence in Han Chinese. Wei J et al. 2012 Addictive behaviors
22397633 Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC. Toma C et al. 2013 The world journal of biological psychiatry
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
24927283 Role of nicotine dependence in the association between the dopamine receptor gene DRD3 and major depressive disorder. Korhonen T et al. 2014 PloS one
24944790 Screening for 392 polymorphisms in 141 pharmacogenes. Kim JY et al. 2014 Biomedical reports
25224105 Autism, DRD3 and repetitive and stereotyped behavior, an overview of the current knowledge. Staal WG et al. 2015 European neuropsychopharmacology
25266122 Addiction-related genes in gambling disorders: new insights from parallel human and pre-clinical models. Lobo DS et al. 2015 Molecular psychiatry
25792691 DRD3 gene and striatum in autism spectrum disorder. Staal WG et al. 2015 The British journal of psychiatry
25807276 Analysis of pharmacogenomic variants associated with population differentiation. Yeon B et al. 2015 PloS one
26322220 A comprehensive meta-analysis of common genetic variants in autism spectrum conditions. Warrier V et al. 2015 Molecular autism
26555434 Prevalence of pain-related single nucleotide polymorphisms in patients of African origin with sickle cell disease. Jhun EH et al. 2015 Pharmacogenomics
27247849 Genetic variation and cognitive dysfunction in opioid-treated patients with cancer. Kurita GP et al. 2016 Brain and behavior
30093869 Biological Predictors of Clozapine Response: A Systematic Review. Samanaite R et al. 2018 Frontiers in psychiatry
30967134 A pharmacogenetic study of patients with schizophrenia from West Siberia gets insight into dopaminergic mechanisms of antipsychotic-induced hyperprolactinemia. Osmanova DZ et al. 2019 BMC medical genetics
33644845 Association between autism spectrum disorder and polymorphisms in genes encoding serotine and dopamine receptors. Liu J et al. 2021 Metabolic brain disease
34440083 Candidate Genes Encoding Dopamine Receptors as Predictors of the Risk of Antipsychotic-Induced Parkinsonism and Tardive Dyskinesia in Schizophrenic Patients. Vaiman EE et al. 2021 Biomedicines
35140610 Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies. Tsermpini EE et al. 2021 Frontiers in pharmacology
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.post761+d5e8e07