Name: rs6280
Published: September 21, 2022
License: Open Access

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.

rs6280

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:114171968 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.343916 (121994/354720, ALFA)
C=0.472118 (124965/264690, TOPMED)
C=0.372475 (56728/152300, GnomAD_exome) (+ 23 more)
C=0.460707 (64523/140052, GnomAD)
T=0.45697 (35950/78670, PAGE_STUDY)
C=0.34317 (25157/73308, ExAC)
C=0.27525 (7778/28258, 14KJPN)
C=0.27381 (4589/16760, 8.3KJPN)
C=0.4944 (3166/6404, 1000G_30x)
C=0.4864 (2436/5008, 1000G)
C=0.2710 (1214/4480, Estonian)
C=0.3381 (1303/3854, ALSPAC)
C=0.3382 (1254/3708, TWINSUK)
C=0.2809 (823/2930, KOREAN)
C=0.4016 (837/2084, HGDP_Stanford)
T=0.4751 (898/1890, HapMap)
C=0.3013 (552/1832, Korea1K)
C=0.3924 (434/1106, Daghestan)
C=0.322 (321/998, GoNL)
C=0.363 (218/600, NorthernSweden)
T=0.253 (135/534, MGP)
C=0.266 (119/448, SGDP_PRJ)
C=0.431 (93/216, Qatari)
C=0.42 (28/66, Ancient Sardinia)
C=0.15 (8/52, Siberian)
C=0.30 (12/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DRD3 : Missense Variant
Publications: 138 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	370832	C=0.348740	T=0.651260
European	Sub	313884	C=0.325608	T=0.674392
African	Sub	16520	C=0.72276	T=0.27724
African Others	Sub	594	C=0.790	T=0.210
African American	Sub	15926	C=0.72027	T=0.27973
Asian	Sub	6982	C=0.3141	T=0.6859
East Asian	Sub	5014	C=0.3063	T=0.6937
Other Asian	Sub	1968	C=0.3338	T=0.6662
Latin American 1	Sub	1134	C=0.4427	T=0.5573
Latin American 2	Sub	7224	C=0.4543	T=0.5457
South Asian	Sub	5226	C=0.4049	T=0.5951
Other	Sub	19862	C=0.35686	T=0.64314

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	354720	C=0.343916	T=0.656084
Allele Frequency Aggregator	European	Sub	304050	C=0.325476	T=0.674524
Allele Frequency Aggregator	Other	Sub	18422	C=0.35479	T=0.64521
Allele Frequency Aggregator	African	Sub	11682	C=0.71940	T=0.28060
Allele Frequency Aggregator	Latin American 2	Sub	7224	C=0.4543	T=0.5457
Allele Frequency Aggregator	Asian	Sub	6982	C=0.3141	T=0.6859
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.4049	T=0.5951
Allele Frequency Aggregator	Latin American 1	Sub	1134	C=0.4427	T=0.5573
TopMed	Global	Study-wide	264690	C=0.472118	T=0.527882
gnomAD - Exomes	Global	Study-wide	152300	C=0.372475	T=0.627525
gnomAD - Exomes	European	Sub	86346	C=0.32134	T=0.67866
gnomAD - Exomes	Asian	Sub	27560	C=0.36567	T=0.63433
gnomAD - Exomes	American	Sub	19300	C=0.45088	T=0.54912
gnomAD - Exomes	African	Sub	10270	C=0.73651	T=0.26349
gnomAD - Exomes	Ashkenazi Jewish	Sub	5364	C=0.2737	T=0.7263
gnomAD - Exomes	Other	Sub	3460	C=0.3382	T=0.6618
gnomAD - Genomes	Global	Study-wide	140052	C=0.460707	T=0.539293
gnomAD - Genomes	European	Sub	75848	C=0.32820	T=0.67180
gnomAD - Genomes	African	Sub	41966	C=0.72804	T=0.27196
gnomAD - Genomes	American	Sub	13642	C=0.45133	T=0.54867
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.2917	T=0.7083
gnomAD - Genomes	East Asian	Sub	3124	C=0.3127	T=0.6873
gnomAD - Genomes	Other	Sub	2150	C=0.4530	T=0.5470
The PAGE Study	Global	Study-wide	78670	C=0.54303	T=0.45697
The PAGE Study	AfricanAmerican	Sub	32508	C=0.72311	T=0.27689
The PAGE Study	Mexican	Sub	10802	C=0.44807	T=0.55193
The PAGE Study	Asian	Sub	8314	C=0.2801	T=0.7199
The PAGE Study	PuertoRican	Sub	7916	C=0.4428	T=0.5572
The PAGE Study	NativeHawaiian	Sub	4532	C=0.3438	T=0.6562
The PAGE Study	Cuban	Sub	4226	C=0.4240	T=0.5760
The PAGE Study	Dominican	Sub	3828	C=0.5632	T=0.4368
The PAGE Study	CentralAmerican	Sub	2448	C=0.4890	T=0.5110
The PAGE Study	SouthAmerican	Sub	1980	C=0.4672	T=0.5328
The PAGE Study	NativeAmerican	Sub	1260	C=0.4230	T=0.5770
The PAGE Study	SouthAsian	Sub	856	C=0.442	T=0.558
ExAC	Global	Study-wide	73308	C=0.34317	T=0.65683
ExAC	Europe	Sub	47928	C=0.29697	T=0.70303
ExAC	Asian	Sub	13356	C=0.33229	T=0.66771
ExAC	African	Sub	6182	C=0.6863	T=0.3137
ExAC	American	Sub	5296	C=0.3916	T=0.6084
ExAC	Other	Sub	546	C=0.310	T=0.690
14KJPN	JAPANESE	Study-wide	28258	C=0.27525	T=0.72475
8.3KJPN	JAPANESE	Study-wide	16760	C=0.27381	T=0.72619
1000Genomes_30x	Global	Study-wide	6404	C=0.4944	T=0.5056
1000Genomes_30x	African	Sub	1786	C=0.8163	T=0.1837
1000Genomes_30x	Europe	Sub	1266	C=0.3381	T=0.6619
1000Genomes_30x	South Asian	Sub	1202	C=0.4168	T=0.5832
1000Genomes_30x	East Asian	Sub	1170	C=0.2991	T=0.7009
1000Genomes_30x	American	Sub	980	C=0.438	T=0.562
1000Genomes	Global	Study-wide	5008	C=0.4864	T=0.5136
1000Genomes	African	Sub	1322	C=0.8185	T=0.1815
1000Genomes	East Asian	Sub	1008	C=0.3065	T=0.6935
1000Genomes	Europe	Sub	1006	C=0.3360	T=0.6640
1000Genomes	South Asian	Sub	978	C=0.420	T=0.580
1000Genomes	American	Sub	694	C=0.427	T=0.573
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2710	T=0.7290
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3381	T=0.6619
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3382	T=0.6618
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2809	T=0.7191
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.4016	T=0.5984
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.243	T=0.757
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.384	T=0.616
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.391	T=0.609
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.322	T=0.678
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.674	T=0.326
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.588	T=0.412
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.47	T=0.53
HapMap	Global	Study-wide	1890	C=0.5249	T=0.4751
HapMap	American	Sub	768	C=0.413	T=0.587
HapMap	African	Sub	692	C=0.775	T=0.225
HapMap	Asian	Sub	254	C=0.291	T=0.709
HapMap	Europe	Sub	176	C=0.369	T=0.631
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3013	T=0.6987
Genome-wide autozygosity in Daghestan	Global	Study-wide	1106	C=0.3924	T=0.6076
Genome-wide autozygosity in Daghestan	Daghestan	Sub	610	C=0.403	T=0.597
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.352	T=0.648
Genome-wide autozygosity in Daghestan	Central Asia	Sub	114	C=0.386	T=0.614
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.278	T=0.722
Genome-wide autozygosity in Daghestan	South Asian	Sub	96	C=0.57	T=0.43
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.25	T=0.75
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.322	T=0.678
Northern Sweden	ACPOP	Study-wide	600	C=0.363	T=0.637
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.747	T=0.253
SGDP_PRJ	Global	Study-wide	448	C=0.266	T=0.734
Qatari	Global	Study-wide	216	C=0.431	T=0.569
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	66	C=0.42	T=0.58
Siberian	Global	Study-wide	52	C=0.15	T=0.85
The Danish reference pan genome	Danish	Study-wide	40	C=0.30	T=0.70

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.114171968C>T
GRCh37.p13 chr 3	NC_000003.11:g.113890815C>T
DRD3 RefSeqGene	NG_008842.2:g.32440G>A

Gene: DRD3, dopamine receptor D3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DRD3 transcript variant g	NM_001290809.1:c.25G>A	G [GGC] > S [AGC]	Coding Sequence Variant
D(3) dopamine receptor isoform a	NP_001277738.1:p.Gly9Ser	G (Gly) > S (Ser)	Missense Variant
DRD3 transcript variant f	NM_001282563.2:c.25G>A	G [GGC] > S [AGC]	Coding Sequence Variant
D(3) dopamine receptor isoform a	NP_001269492.1:p.Gly9Ser	G (Gly) > S (Ser)	Missense Variant
DRD3 transcript variant a	NM_000796.6:c.25G>A	G [GGC] > S [AGC]	Coding Sequence Variant
D(3) dopamine receptor isoform a	NP_000787.2:p.Gly9Ser	G (Gly) > S (Ser)	Missense Variant
DRD3 transcript variant e	NM_033663.6:c.25G>A	G [GGC] > S [AGC]	Coding Sequence Variant
D(3) dopamine receptor isoform e	NP_387512.3:p.Gly9Ser	G (Gly) > S (Ser)	Missense 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.

Allele: C= (allele ID: 500415 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000606074.1	not specified	Benign

Allele: T (allele ID: 31809 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000018257.2	Schizophrenia, susceptibility to	Risk-Factor
RCV000018258.2	Essential tremor, susceptibility to	Risk-Factor
RCV000381906.3	Tremor, hereditary essential, 1	Benign
RCV000613256.1	not specified	Likely-Benign

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=	T
GRCh38.p14 chr 3	NC_000003.12:g.114171968=	NC_000003.12:g.114171968C>T
GRCh37.p13 chr 3	NC_000003.11:g.113890815=	NC_000003.11:g.113890815C>T
DRD3 RefSeqGene	NG_008842.2:g.32440=	NG_008842.2:g.32440G>A
DRD3 transcript variant a	NM_000796.6:c.25=	NM_000796.6:c.25G>A
DRD3 transcript variant a	NM_000796.5:c.25=	NM_000796.5:c.25G>A
DRD3 transcript variant a	NM_000796.4:c.25=	NM_000796.4:c.25G>A
DRD3 transcript variant a	NM_000796.3:c.25=	NM_000796.3:c.25G>A
DRD3 transcript variant e	NM_033663.6:c.25=	NM_033663.6:c.25G>A
DRD3 transcript variant e	NM_033663.5:c.25=	NM_033663.5:c.25G>A
DRD3 transcript variant e	NM_033663.4:c.25=	NM_033663.4:c.25G>A
DRD3 transcript variant e	NM_033663.3:c.25=	NM_033663.3:c.25G>A
DRD3 transcript variant f	NM_001282563.2:c.25=	NM_001282563.2:c.25G>A
DRD3 transcript variant f	NM_001282563.1:c.25=	NM_001282563.1:c.25G>A
DRD3 transcript variant g	NM_001290809.1:c.25=	NM_001290809.1:c.25G>A
DRD3 transcript variant c	NM_033659.1:c.25A>G	NM_033659.1:c.25=
DRD3 transcript variant d	NM_033660.1:c.25A>G	NM_033660.1:c.25=
DRD3 transcript variant b	NM_033658.1:c.25A>G	NM_033658.1:c.25=
D(3) dopamine receptor isoform a	NP_000787.2:p.Gly9=	NP_000787.2:p.Gly9Ser
D(3) dopamine receptor isoform e	NP_387512.3:p.Gly9=	NP_387512.3:p.Gly9Ser
D(3) dopamine receptor isoform a	NP_001269492.1:p.Gly9=	NP_001269492.1:p.Gly9Ser
D(3) dopamine receptor isoform a	NP_001277738.1:p.Gly9=	NP_001277738.1:p.Gly9Ser

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#.

207 SubSNP, 26 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7908	Sep 19, 2000 (52)
2	KWOK	ss414478	Jul 12, 2000 (85)
3	KWOK	ss899981	Oct 04, 2000 (86)
4	KWOK	ss1893415	Oct 18, 2000 (87)
5	SC_JCM	ss3704686	Sep 28, 2001 (100)
6	KIDDLAB	ss6312535	Feb 20, 2003 (111)
7	BCM_SSAHASNP	ss14196784	Dec 05, 2003 (119)
8	CSHL-HAPMAP	ss16957879	Feb 27, 2004 (120)
9	SSAHASNP	ss22003973	Apr 05, 2004 (121)
10	ABI	ss44424656	Mar 13, 2006 (126)
11	PERLEGEN	ss46540690	Mar 13, 2006 (126)
12	APPLERA_GI	ss48417162	Mar 13, 2006 (126)
13	ILLUMINA	ss65731799	Oct 16, 2006 (127)
14	ILLUMINA	ss66562957	Nov 30, 2006 (127)
15	ILLUMINA	ss67449010	Nov 30, 2006 (127)
16	ILLUMINA	ss67800423	Nov 30, 2006 (127)
17	PERLEGEN	ss68872172	May 17, 2007 (127)
18	ILLUMINA	ss70861610	May 25, 2008 (130)
19	ILLUMINA	ss71448977	May 17, 2007 (127)
20	AFFY	ss74812094	Aug 16, 2007 (128)
21	ILLUMINA	ss75619225	Dec 06, 2007 (129)
22	ILLUMINA	ss79218621	Dec 15, 2007 (130)
23	HGSV	ss83150064	Dec 15, 2007 (130)
24	KRIBB_YJKIM	ss83347134	Dec 15, 2007 (130)
25	BCMHGSC_JDW	ss92243151	Mar 24, 2008 (129)
26	HUMANGENOME_JCVI	ss99123920	Feb 05, 2009 (130)
27	SHGC	ss99307768	Feb 05, 2009 (130)
28	BGI	ss106290208	Feb 05, 2009 (130)
29	1000GENOMES	ss112376112	Jan 25, 2009 (130)
30	ILLUMINA	ss120036478	Dec 01, 2009 (131)
31	ILLUMINA	ss122527218	Dec 01, 2009 (131)
32	ENSEMBL	ss135544170	Dec 01, 2009 (131)
33	ENSEMBL	ss139106604	Dec 01, 2009 (131)
34	ILLUMINA	ss154356629	Dec 01, 2009 (131)
35	GMI	ss156059901	Dec 01, 2009 (131)
36	ILLUMINA	ss159532888	Dec 01, 2009 (131)
37	SEATTLESEQ	ss159705785	Dec 01, 2009 (131)
38	ILLUMINA	ss160769825	Dec 01, 2009 (131)
39	COMPLETE_GENOMICS	ss167061789	Jul 04, 2010 (132)
40	ILLUMINA	ss172111919	Jul 04, 2010 (132)
41	ILLUMINA	ss173992137	Jul 04, 2010 (132)
42	BCM-HGSC-SUB	ss206112130	Jul 04, 2010 (132)
43	1000GENOMES	ss220364763	Jul 14, 2010 (132)
44	1000GENOMES	ss231985950	Jul 14, 2010 (132)
45	1000GENOMES	ss239367292	Jul 15, 2010 (132)
46	OMICIA	ss244238222	Aug 29, 2012 (137)
47	ILLUMINA	ss244304660	Jul 04, 2010 (132)
48	BL	ss253407933	May 09, 2011 (134)
49	OMIM-CURATED-RECORDS	ss263197827	Nov 04, 2010 (133)
50	GMI	ss277302911	May 04, 2012 (137)
51	GMI	ss284726785	Apr 25, 2013 (138)
52	PJP	ss292890753	May 09, 2011 (134)
53	NHLBI-ESP	ss342143623	May 09, 2011 (134)
54	ILLUMINA	ss481229350	May 04, 2012 (137)
55	ILLUMINA	ss481252920	May 04, 2012 (137)
56	ILLUMINA	ss482239281	Sep 08, 2015 (146)
57	ILLUMINA	ss485410011	May 04, 2012 (137)
58	1000GENOMES	ss489893618	May 04, 2012 (137)
59	GSK-GENETICS	ss491267969	May 04, 2012 (137)
60	EXOME_CHIP	ss491344352	May 04, 2012 (137)
61	CLINSEQ_SNP	ss491839867	May 04, 2012 (137)
62	ILLUMINA	ss537344339	Sep 08, 2015 (146)
63	TISHKOFF	ss556872109	Apr 25, 2013 (138)
64	SSMP	ss650581694	Apr 25, 2013 (138)
65	ILLUMINA	ss779045513	Sep 08, 2015 (146)
66	ILLUMINA	ss780820445	Sep 08, 2015 (146)
67	ILLUMINA	ss783150462	Sep 08, 2015 (146)
68	ILLUMINA	ss783502848	Sep 08, 2015 (146)
69	ILLUMINA	ss784106438	Sep 08, 2015 (146)
70	ILLUMINA	ss825549139	Apr 01, 2015 (144)
71	ILLUMINA	ss832409652	Sep 08, 2015 (146)
72	ILLUMINA	ss833044128	Jul 13, 2019 (153)
73	ILLUMINA	ss834508416	Sep 08, 2015 (146)
74	JMKIDD_LAB	ss974449278	Aug 21, 2014 (142)
75	EVA-GONL	ss979037366	Aug 21, 2014 (142)
76	JMKIDD_LAB	ss1067453932	Aug 21, 2014 (142)
77	JMKIDD_LAB	ss1070742484	Aug 21, 2014 (142)
78	1000GENOMES	ss1305683246	Aug 21, 2014 (142)
79	HAMMER_LAB	ss1397348815	Sep 08, 2015 (146)
80	DDI	ss1429549263	Apr 01, 2015 (144)
81	EVA_GENOME_DK	ss1580133623	Apr 01, 2015 (144)
82	EVA_DECODE	ss1588517277	Apr 01, 2015 (144)
83	EVA_UK10K_ALSPAC	ss1607961981	Apr 01, 2015 (144)
84	EVA_UK10K_TWINSUK	ss1650956014	Apr 01, 2015 (144)
85	EVA_EXAC	ss1687149566	Apr 01, 2015 (144)
86	EVA_MGP	ss1711028996	Apr 01, 2015 (144)
87	EVA_SVP	ss1712603655	Apr 01, 2015 (144)
88	MGLAB_FHMS_UPM	ss1713988441	Sep 08, 2015 (146)
89	ILLUMINA	ss1752432869	Sep 08, 2015 (146)
90	ILLUMINA	ss1752432870	Sep 08, 2015 (146)
91	HAMMER_LAB	ss1799876506	Sep 08, 2015 (146)
92	ILLUMINA	ss1917771063	Feb 12, 2016 (147)
93	WEILL_CORNELL_DGM	ss1922265583	Feb 12, 2016 (147)
94	ILLUMINA	ss1946092419	Feb 12, 2016 (147)
95	ILLUMINA	ss1946092420	Feb 12, 2016 (147)
96	ILLUMINA	ss1958595193	Feb 12, 2016 (147)
97	ILLUMINA	ss1958595194	Feb 12, 2016 (147)
98	GENOMED	ss1969495055	Jul 19, 2016 (147)
99	JJLAB	ss2021698787	Sep 14, 2016 (149)
100	USC_VALOUEV	ss2149790647	Dec 20, 2016 (150)
101	HUMAN_LONGEVITY	ss2254880164	Dec 20, 2016 (150)
102	SYSTEMSBIOZJU	ss2625352068	Nov 08, 2017 (151)
103	ILLUMINA	ss2633996867	Nov 08, 2017 (151)
104	ILLUMINA	ss2635122936	Nov 08, 2017 (151)
105	GRF	ss2705192703	Nov 08, 2017 (151)
106	ILLUMINA	ss2710982614	Nov 08, 2017 (151)
107	GNOMAD	ss2733977054	Nov 08, 2017 (151)
108	GNOMAD	ss2747073713	Nov 08, 2017 (151)
109	GNOMAD	ss2797779469	Nov 08, 2017 (151)
110	AFFY	ss2985266474	Nov 08, 2017 (151)
111	AFFY	ss2985887496	Nov 08, 2017 (151)
112	SWEGEN	ss2993004496	Nov 08, 2017 (151)
113	ILLUMINA	ss3022275097	Nov 08, 2017 (151)
114	ILLUMINA	ss3022275098	Nov 08, 2017 (151)
115	EVA_SAMSUNG_MC	ss3023059774	Nov 08, 2017 (151)
116	BIOINF_KMB_FNS_UNIBA	ss3024616037	Nov 08, 2017 (151)
117	CSHL	ss3345210897	Nov 08, 2017 (151)
118	ILLUMINA	ss3625823376	Oct 12, 2018 (152)
119	ILLUMINA	ss3628748563	Oct 12, 2018 (152)
120	ILLUMINA	ss3628748564	Oct 12, 2018 (152)
121	ILLUMINA	ss3631940576	Oct 12, 2018 (152)
122	ILLUMINA	ss3633304653	Oct 12, 2018 (152)
123	ILLUMINA	ss3634022161	Oct 12, 2018 (152)
124	ILLUMINA	ss3634911422	Oct 12, 2018 (152)
125	ILLUMINA	ss3634911423	Oct 12, 2018 (152)
126	ILLUMINA	ss3635705837	Oct 12, 2018 (152)
127	ILLUMINA	ss3636607694	Oct 12, 2018 (152)
128	ILLUMINA	ss3637458229	Oct 12, 2018 (152)
129	ILLUMINA	ss3638435151	Oct 12, 2018 (152)
130	ILLUMINA	ss3639220692	Oct 12, 2018 (152)
131	ILLUMINA	ss3639628969	Oct 12, 2018 (152)
132	ILLUMINA	ss3640618721	Oct 12, 2018 (152)
133	ILLUMINA	ss3640618722	Oct 12, 2018 (152)
134	ILLUMINA	ss3643390651	Oct 12, 2018 (152)
135	ILLUMINA	ss3644825045	Oct 12, 2018 (152)
136	ILLUMINA	ss3644825046	Oct 12, 2018 (152)
137	OMUKHERJEE_ADBS	ss3646291149	Oct 12, 2018 (152)
138	URBANLAB	ss3647501473	Oct 12, 2018 (152)
139	ILLUMINA	ss3652752999	Oct 12, 2018 (152)
140	ILLUMINA	ss3652753000	Oct 12, 2018 (152)
141	ILLUMINA	ss3654035467	Oct 12, 2018 (152)
142	EGCUT_WGS	ss3660927566	Jul 13, 2019 (153)
143	EVA_DECODE	ss3710059562	Jul 13, 2019 (153)
144	ILLUMINA	ss3726046661	Jul 13, 2019 (153)
145	ACPOP	ss3730247419	Jul 13, 2019 (153)
146	ILLUMINA	ss3744220362	Jul 13, 2019 (153)
147	ILLUMINA	ss3744514368	Jul 13, 2019 (153)
148	ILLUMINA	ss3745211395	Jul 13, 2019 (153)
149	ILLUMINA	ss3745211396	Jul 13, 2019 (153)
150	EVA	ss3760544386	Jul 13, 2019 (153)
151	PAGE_CC	ss3771055817	Jul 13, 2019 (153)
152	ILLUMINA	ss3772706707	Jul 13, 2019 (153)
153	ILLUMINA	ss3772706708	Jul 13, 2019 (153)
154	PACBIO	ss3784431103	Jul 13, 2019 (153)
155	PACBIO	ss3789930361	Jul 13, 2019 (153)
156	PACBIO	ss3794804773	Jul 13, 2019 (153)
157	KHV_HUMAN_GENOMES	ss3803681944	Jul 13, 2019 (153)
158	EVA	ss3823943561	Apr 25, 2020 (154)
159	EVA	ss3825521052	Apr 25, 2020 (154)
160	EVA	ss3825537604	Apr 25, 2020 (154)
161	EVA	ss3825639459	Apr 25, 2020 (154)
162	EVA	ss3828015396	Apr 25, 2020 (154)
163	EVA	ss3837440132	Apr 25, 2020 (154)
164	EVA	ss3842870145	Apr 25, 2020 (154)
165	HGDP	ss3847720061	Apr 25, 2020 (154)
166	SGDP_PRJ	ss3856723586	Apr 25, 2020 (154)
167	KRGDB	ss3902706163	Apr 25, 2020 (154)
168	KOGIC	ss3952177593	Apr 25, 2020 (154)
169	FSA-LAB	ss3984258974	Apr 27, 2021 (155)
170	FSA-LAB	ss3984258975	Apr 27, 2021 (155)
171	EVA	ss3985013863	Apr 27, 2021 (155)
172	EVA	ss3986024080	Apr 27, 2021 (155)
173	EVA	ss3986249984	Apr 27, 2021 (155)
174	EVA	ss4017099755	Apr 27, 2021 (155)
175	TOPMED	ss4579534464	Apr 27, 2021 (155)
176	TOMMO_GENOMICS	ss5161050195	Apr 27, 2021 (155)
177	EVA	ss5236999226	Apr 27, 2021 (155)
178	EVA	ss5237178093	Apr 27, 2021 (155)
179	EVA	ss5237640036	Oct 12, 2022 (156)
180	1000G_HIGH_COVERAGE	ss5255619281	Oct 12, 2022 (156)
181	TRAN_CS_UWATERLOO	ss5314407946	Oct 12, 2022 (156)
182	EVA	ss5314884437	Oct 12, 2022 (156)
183	EVA	ss5342517629	Oct 12, 2022 (156)
184	HUGCELL_USP	ss5454807810	Oct 12, 2022 (156)
185	EVA	ss5507154830	Oct 12, 2022 (156)
186	1000G_HIGH_COVERAGE	ss5534846504	Oct 12, 2022 (156)
187	EVA	ss5623926807	Oct 12, 2022 (156)
188	EVA	ss5624130860	Oct 12, 2022 (156)
189	SANFORD_IMAGENETICS	ss5624527946	Oct 12, 2022 (156)
190	SANFORD_IMAGENETICS	ss5632959222	Oct 12, 2022 (156)
191	TOMMO_GENOMICS	ss5693770792	Oct 12, 2022 (156)
192	EVA	ss5799588940	Oct 12, 2022 (156)
193	EVA	ss5800051577	Oct 12, 2022 (156)
194	EVA	ss5800108775	Oct 12, 2022 (156)
195	YY_MCH	ss5804141778	Oct 12, 2022 (156)
196	EVA	ss5826322757	Oct 12, 2022 (156)
197	EVA	ss5847223986	Oct 12, 2022 (156)
198	EVA	ss5847521198	Oct 12, 2022 (156)
199	EVA	ss5847977297	Oct 12, 2022 (156)
200	EVA	ss5848589602	Oct 12, 2022 (156)
201	EVA	ss5853787154	Oct 12, 2022 (156)
202	EVA	ss5870532472	Oct 12, 2022 (156)
203	EVA	ss5936522152	Oct 12, 2022 (156)
204	EVA	ss5961294893	Oct 12, 2022 (156)
205	EVA	ss5979667579	Oct 12, 2022 (156)
206	EVA	ss5980166390	Oct 12, 2022 (156)
207	EVA	ss5981216754	Oct 12, 2022 (156)
208	1000Genomes	NC_000003.11 - 113890815	Oct 12, 2018 (152)
209	1000Genomes_30x	NC_000003.12 - 114171968	Oct 12, 2022 (156)
210	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 113890815	Oct 12, 2018 (152)
211	Genome-wide autozygosity in Daghestan	NC_000003.10 - 115373505	Apr 25, 2020 (154)
212	Genetic variation in the Estonian population	NC_000003.11 - 113890815	Oct 12, 2018 (152)
213	ExAC	NC_000003.11 - 113890815	Oct 12, 2018 (152)
214	The Danish reference pan genome	NC_000003.11 - 113890815	Apr 25, 2020 (154)
215	gnomAD - Genomes	NC_000003.12 - 114171968	Apr 27, 2021 (155)
216	gnomAD - Exomes	NC_000003.11 - 113890815	Jul 13, 2019 (153)
217	Genome of the Netherlands Release 5	NC_000003.11 - 113890815	Apr 25, 2020 (154)
218	HGDP-CEPH-db Supplement 1	NC_000003.10 - 115373505	Apr 25, 2020 (154)
219	HapMap	NC_000003.12 - 114171968	Apr 25, 2020 (154)
220	KOREAN population from KRGDB	NC_000003.11 - 113890815	Apr 25, 2020 (154)
221	Korean Genome Project	NC_000003.12 - 114171968	Apr 25, 2020 (154)
222	Medical Genome Project healthy controls from Spanish population	NC_000003.11 - 113890815	Apr 25, 2020 (154)
223	Northern Sweden	NC_000003.11 - 113890815	Jul 13, 2019 (153)
224	The PAGE Study	NC_000003.12 - 114171968	Jul 13, 2019 (153)
225	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000003.11 - 113890815	Apr 27, 2021 (155)
226	Qatari	NC_000003.11 - 113890815	Apr 25, 2020 (154)
227	SGDP_PRJ	NC_000003.11 - 113890815	Apr 25, 2020 (154)
228	Siberian	NC_000003.11 - 113890815	Apr 25, 2020 (154)
229	8.3KJPN	NC_000003.11 - 113890815	Apr 27, 2021 (155)
230	14KJPN	NC_000003.12 - 114171968	Oct 12, 2022 (156)
231	TopMed	NC_000003.12 - 114171968	Apr 27, 2021 (155)
232	UK 10K study - Twins	NC_000003.11 - 113890815	Oct 12, 2018 (152)
233	ALFA	NC_000003.12 - 114171968	Apr 27, 2021 (155)
234	ClinVar	RCV000018257.2	Oct 12, 2018 (152)
235	ClinVar	RCV000018258.2	Oct 12, 2018 (152)
236	ClinVar	RCV000381906.3	Oct 12, 2022 (156)
237	ClinVar	RCV000606074.1	Oct 12, 2018 (152)
238	ClinVar	RCV000613256.1	Oct 12, 2018 (152)

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)
rs324025	Sep 19, 2000 (85)
rs52792556	Sep 21, 2007 (128)
rs59703514	May 25, 2008 (130)
rs117481259	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83150064, ss3639220692, ss3639628969	NC_000003.9:115373504:C:T	NC_000003.12:114171967:C:T	(self)
324670, 397953, ss92243151, ss112376112, ss167061789, ss206112130, ss253407933, ss277302911, ss284726785, ss292890753, ss481229350, ss491267969, ss491839867, ss825549139, ss1397348815, ss1588517277, ss1712603655, ss2635122936, ss3643390651, ss3847720061	NC_000003.10:115373504:C:T	NC_000003.12:114171967:C:T	(self)
16929413, 9425127, 6665814, 7084858, 6298562, 3061927, 4142196, 9883557, 144925, 3532284, 239790, 4307513, 8740566, 2307001, 19019502, 9425127, ss220364763, ss231985950, ss239367292, ss342143623, ss481252920, ss482239281, ss485410011, ss489893618, ss491344352, ss537344339, ss556872109, ss650581694, ss779045513, ss780820445, ss783150462, ss783502848, ss784106438, ss832409652, ss833044128, ss834508416, ss974449278, ss979037366, ss1067453932, ss1070742484, ss1305683246, ss1429549263, ss1580133623, ss1607961981, ss1650956014, ss1687149566, ss1711028996, ss1752432869, ss1752432870, ss1799876506, ss1917771063, ss1922265583, ss1946092419, ss1946092420, ss1958595193, ss1958595194, ss1969495055, ss2021698787, ss2149790647, ss2625352068, ss2633996867, ss2705192703, ss2710982614, ss2733977054, ss2747073713, ss2797779469, ss2985266474, ss2985887496, ss2993004496, ss3022275097, ss3022275098, ss3023059774, ss3345210897, ss3625823376, ss3628748563, ss3628748564, ss3631940576, ss3633304653, ss3634022161, ss3634911422, ss3634911423, ss3635705837, ss3636607694, ss3637458229, ss3638435151, ss3640618721, ss3640618722, ss3644825045, ss3644825046, ss3646291149, ss3652752999, ss3652753000, ss3654035467, ss3660927566, ss3730247419, ss3744220362, ss3744514368, ss3745211395, ss3745211396, ss3760544386, ss3772706707, ss3772706708, ss3784431103, ss3789930361, ss3794804773, ss3823943561, ss3825521052, ss3825537604, ss3825639459, ss3828015396, ss3837440132, ss3856723586, ss3902706163, ss3984258974, ss3984258975, ss3985013863, ss3986024080, ss3986249984, ss4017099755, ss5161050195, ss5314884437, ss5342517629, ss5507154830, ss5623926807, ss5624130860, ss5624527946, ss5632959222, ss5799588940, ss5800051577, ss5800108775, ss5826322757, ss5847223986, ss5847977297, ss5848589602, ss5936522152, ss5961294893, ss5979667579, ss5980166390, ss5981216754	NC_000003.11:113890814:C:T	NC_000003.12:114171967:C:T	(self)
RCV000018257.2, RCV000018258.2, RCV000381906.3, RCV000613256.1, 22372439, 120372331, 2436830, 8555594, 277286, 27607896, 416912019, 5179597754, ss244238222, ss263197827, ss1713988441, ss2254880164, ss3024616037, ss3647501473, ss3710059562, ss3726046661, ss3771055817, ss3803681944, ss3842870145, ss3952177593, ss4579534464, ss5236999226, ss5237178093, ss5237640036, ss5255619281, ss5314407946, ss5454807810, ss5534846504, ss5693770792, ss5804141778, ss5847521198, ss5853787154, ss5870532472	NC_000003.12:114171967:C:T	NC_000003.12:114171967:C:T	(self)
ss14196784, ss16957879, ss22003973	NT_005612.14:20385960:C:T	NC_000003.12:114171967:C:T	(self)
ss7908, ss414478, ss899981, ss1893415, ss3704686, ss6312535, ss44424656, ss46540690, ss48417162, ss65731799, ss66562957, ss67449010, ss67800423, ss68872172, ss70861610, ss71448977, ss74812094, ss75619225, ss79218621, ss83347134, ss99123920, ss99307768, ss106290208, ss120036478, ss122527218, ss135544170, ss139106604, ss154356629, ss156059901, ss159532888, ss159705785, ss160769825, ss172111919, ss173992137, ss244304660	NT_005612.16:20385960:C:T	NC_000003.12:114171967:C:T	(self)

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

138 citations for rs6280

PMID	Title	Author	Year	Journal
1362221	Association between schizophrenia and homozygosity at the dopamine D3 receptor gene.	Crocq MA et al.	1992	Journal of medical genetics
8225313	A study of the association between schizophrenia and the dopamine D3 receptor gene.	Nanko S et al.	1993	Human genetics
8411064	Excess of homozygosity at the dopamine D3 receptor gene in schizophrenia not confirmed.	Nöthen MM et al.	1993	Journal of medical genetics
9514583	European Multicentre Association Study of Schizophrenia: a study of the DRD2 Ser311Cys and DRD3 Ser9Gly polymorphisms.	Spurlock G et al.	1998	American journal of medical genetics
16380908	Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder.	Hawi Z et al.	2005	American journal of human genetics
16650084	Linkage with the Ser9Gly DRD3 polymorphism in essential tremor families.	Lucotte G et al.	2006	Clinical genetics
16809426	A functional variant of the dopamine D3 receptor is associated with risk and age-at-onset of essential tremor.	Jeanneteau F et al.	2006	Proceedings of the National Academy of Sciences of the United States of America
16893532	Novel, replicated associations between dopamine D3 receptor gene polymorphisms and schizophrenia in two independent samples.	Talkowski ME et al.	2006	Biological psychiatry
17339592	DRD3 variant and risk of essential tremor.	Tan EK et al.	2007	Neurology
17466074	Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study.	Ton TG et al.	2007	Behavioral and brain functions
17630406	Dopamine genes and schizophrenia: case closed or evidence pending?	Talkowski ME et al.	2007	Schizophrenia bulletin
18320559	Dopamine receptor D3 genotype association with greater acute positive symptom remission with olanzapine therapy in predominately caucasian patients with chronic schizophrenia or schizoaffective disorder.	Adams DH et al.	2008	Human psychopharmacology
18348205	A functional polymorphism, rs6280, in DRD3 is significantly associated with nicotine dependence in European-American smokers.	Huang W et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
18351593	DRD3, but not COMT or DRD2, genotype affects executive functions in healthy and first-episode psychosis adolescents.	Bombin I et al.	2008	American journal of medical genetics. Part B, Neuropsychiatric genetics
18366720	Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.	Prasad P et al.	2008	BMC genetics
18593715	Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.	Conti DV et al.	2008	Human molecular genetics
18603647	Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.	Simoni M et al.	2008	Human reproduction update
18698231	Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.	Johnson AD et al.	2008	Pharmacogenetics and genomics
18781856	Genetic underpinnings of tardive dyskinesia: passing the baton to pharmacogenetics.	Thelma B et al.	2008	Pharmacogenomics
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
18987889	A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia.	Costas J et al.	2009	Human genetics
19156168	Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.	Need AC et al.	2009	European journal of human genetics
19197363	A genome-wide investigation of SNPs and CNVs in schizophrenia.	Need AC et al.	2009	PLoS genetics
19207358	Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerström Test for Nicotine Dependence.	Agrawal A et al.	2009	Addiction (Abingdon, England)
19302829	Effects of the DRD3 Ser9Gly polymorphism on aripiprazole efficacy in schizophrenic patients as modified by clinical factors.	Chen SF et al.	2009	Progress in neuro-psychopharmacology & biological psychiatry
19358223	The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: a meta-analysis.	Tsai HT et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
19379518	Development of a fingerprinting panel using medically relevant polymorphisms.	Cross DS et al.	2009	BMC medical genomics
19475583	A candidate gene study of Tardive dyskinesia in the CATIE schizophrenia trial.	Tsai HT et al.	2010	American journal of medical genetics. Part B, Neuropsychiatric genetics
19604093	Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.	O'Doherty C et al.	2009	Pharmacogenomics
19669131	Clinical and pharmacogenetic determinants for the discontinuation of non-ergoline dopamine agonists in Parkinson's disease.	Arbouw ME et al.	2009	European journal of clinical pharmacology
19693267	Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.	Roe BE et al.	2009	PloS one
20236178	Dopamine receptor 3 (DRD3) polymorphism and risk for migraine.	García-Martín E et al.	2010	European journal of neurology
20565774	Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.	Cross DS et al.	2010	BMC genetics
20732626	Family-based genome-wide association scan of attention-deficit/hyperactivity disorder.	Mick E et al.	2010	Journal of the American Academy of Child and Adolescent Psychiatry
21083670	Limited associations of dopamine system genes with alcohol dependence and related traits in the Irish Affected Sib Pair Study of Alcohol Dependence (IASPSAD).	Hack LM et al.	2011	Alcoholism, clinical and experimental research
21162693	Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.	Zhang JP et al.	2011	Expert opinion on drug metabolism & toxicology
21491142	Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of cognitive impairment in methamphetamine-dependent men with HIV: preliminary findings.	Gupta S et al.	2011	Journal of neurovirology
21527290	Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood.	Nemoda Z et al.	2011	Neuroscience and biobehavioral reviews
21595009	Converging evidence implicates the dopamine D3 receptor gene in vulnerability to schizophrenia.	Zhang F et al.	2011	American journal of medical genetics. Part B, Neuropsychiatric genetics
21663922	Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium.	McGuire V et al.	2011	Journal of the neurological sciences
21686075	The Role of Genetics in Nicotine Dependence: Mapping the Pathways from Genome to Syndrome.	Mackillop J et al.	2010	Current cardiovascular risk reports
21687501	Pharmacogenetics of antidepressants.	Crisafulli C et al.	2011	Frontiers in pharmacology
21728034	Methamphetamine-associated psychosis.	Grant KM et al.	2012	Journal of neuroimmune pharmacology
21738487	Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease.	Do CB et al.	2011	PLoS genetics
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
22024213	A novel gene-environment interaction involved in endometriosis.	McCarty CA et al.	2012	International journal of gynaecology and obstetrics
22105624	The genetics of attention deficit/hyperactivity disorder in adults, a review.	Franke B et al.	2012	Molecular psychiatry
22287936	Pharmacogenetics of antipsychotic treatment response and side effects.	Mackenzie B et al.	2010	Therapy (London, England
22569179	Rs1076560, a functional variant of the dopamine D2 receptor gene, confers risk of schizophrenia in Han Chinese.	Zheng C et al.	2012	Neuroscience letters
22615781	Candidate gene-based association study of antipsychotic-induced movement disorders in long-stay psychiatric patients: a prospective study.	Bakker PR et al.	2012	PloS one
22940547	Preliminary evidence for association between schizophrenia and polymorphisms in the regulatory Regions of the ADRA2A, DRD3 and SNAP-25 Genes.	Lochman J et al.	2013	Psychiatry research
22963930	Custom genotyping for substance addiction susceptibility genes in Jordanians of Arab descent.	Al-Eitan LN et al.	2012	BMC research notes
23097719	Current perspectives on the neurobiology of drug addiction: a focus on genetics and factors regulating gene expression.	Duncan JR et al.	2012	ISRN neurology
23312624	Dopamine receptor D3 (DRD3) gene rs6280 variant and risk for restless legs syndrome.	Jiménez-Jiménez FJ et al.	2013	Sleep medicine
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
23932573	Dopaminergic gene polymorphisms and cognitive function in a north Indian schizophrenia cohort.	Kukshal P et al.	2013	Journal of psychiatric research
24398431	DRD3 variation associates with early-onset heroin dependence, but not specific personality traits.	Kuo SC et al.	2014	Progress in neuro-psychopharmacology & biological psychiatry
24728302	Higher prevalence of migraine in essential tremor: a case-control study.	Hu Y et al.	2014	Cephalalgia
24776816	DRD3 gene rs6280 polymorphism may be associated with alcohol dependence overall and with Lesch type I alcohol dependence in Koreans.	Kang SG et al.	2014	Neuropsychobiology
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
24996618	Host genetic factors predisposing to HIV-associated neurocognitive disorder.	Kallianpur AR et al.	2014	Current HIV/AIDS reports
25102390	Dopamine D3 receptor Ser9Gly and catechol-o-methyltransferase Val158Met polymorphisms and acute pain in sickle cell disease.	Jhun E et al.	2014	Anesthesia and analgesia
25365808	Genetic basis of delay discounting in frequent gamblers: examination of a priori candidates and exploration of a panel of dopamine-related loci.	Gray JC et al.	2014	Brain and behavior
25658328	Polymorphism in the serotonin receptor 2a (HTR2A) gene as possible predisposal factor for aggressive traits.	Banlaki Z et al.	2015	PloS one
25660313	Meta-analysis of six genes (BDNF, DRD1, DRD3, DRD4, GRIN2B and MAOA) involved in neuroplasticity and the risk for alcohol dependence.	Forero DA et al.	2015	Drug and alcohol dependence
25698199	Association between Tourette syndrome and the dopamine D3 receptor gene rs6280.	He F et al.	2015	Chinese medical journal
25733959	Pharmacogenetics and outcome with antipsychotic drugs.	Pouget JG et al.	2014	Dialogues in clinical neuroscience
25819021	A review of pharmacogenetic studies of substance-related disorders.	Jones JD et al.	2015	Drug and alcohol dependence
25896831	DRD and GRIN2B polymorphisms and their association with the development of impulse control behaviour among Malaysian Parkinson's disease patients.	Zainal Abidin S et al.	2015	BMC neurology
26131011	Lack of association of DRD3 and CNR1 polymorphisms with premenstrual dysphoric disorders.	Yıldız M et al.	2015	Iranian journal of reproductive medicine
26272535	The placebo effect: From concepts to genes.	Colagiuri B et al.	2015	Neuroscience
26429319	Influence of dopamine receptor gene polymorphisms on circulating T lymphocytes: A pilot study in healthy subjects.	Cosentino M et al.	2015	Human immunology
26627941	Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms.	Hassan A et al.	2016	Parkinsonism & related disorders
26857559	A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers.	León-Cachón RBR et al.	2016	BMC cancer
26926883	Genetic variation and dopamine D2 receptor availability: a systematic review and meta-analysis of human in vivo molecular imaging studies.	Gluskin BS et al.	2016	Translational psychiatry
27066308	Dopamine pathway gene variants may modulate cognitive performance in the DHS - Mind Study.	Martelle SE et al.	2016	Brain and behavior
27127627	Likelihood of mechanistic roles for dopaminergic, serotonergic and glutamatergic receptors in tardive dyskinesia: A comparison of genetic variants in two independent patient populations.	Ivanova SA et al.	2016	SAGE open medicine
27166759	Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions.	Yang J et al.	2016	Molecular psychiatry
27325396	Dopamine D3 receptor Ser9Gly variant is associated with impulse control disorders in Parkinson's disease patients.	Krishnamoorthy S et al.	2016	Parkinsonism & related disorders
27375535	Molecular Signatures of Natural Selection for Polymorphic Genes of the Human Dopaminergic and Serotonergic Systems: A Review.	Taub DR et al.	2016	Frontiers in psychology
27456607	A family study of DRD3 rs6280, SLC1A2 rs3794087 and MAPT rs1052553 variants in essential tremor.	Jiménez-Jiménez FJ et al.	2016	Neurological research
27497990	Polymorphisms of dopamine receptor genes and risk of visual hallucinations in Parkinson's patients.	Ferrari M et al.	2016	European journal of clinical pharmacology
27647283	Dopamine Receptor Genes Modulate Associative Memory in Old Age.	Papenberg G et al.	2017	Journal of cognitive neuroscience
27757066	Pharmacogenetic tests for antipsychotic medications: clinical implications and considerations.	Eum S et al.	2016	Dialogues in clinical neuroscience
27779245	Association between DRD2 and DRD3 gene polymorphisms and gastrointestinal symptoms induced by levodopa therapy in Parkinson's disease.	Rieck M et al.	2018	The pharmacogenomics journal
27784028	Investigating the Genetic Basis of Social Conformity: The Role of the Dopamine Receptor 3 (DRD3) Gene.	Zhao C et al.	2016	Neuropsychobiology
27853387	Treatment-resistant schizophrenia: current insights on the pharmacogenomics of antipsychotics.	Lally J et al.	2016	Pharmacogenomics and personalized medicine
27895608	Genetic Consideration of Schizotypal Traits: A Review.	Walter EE et al.	2016	Frontiers in psychology
28028606	Novelty seeking mediates the effect of DRD3 variation on onset age of amphetamine dependence in Han Chinese population.	Kuo SC et al.	2018	European archives of psychiatry and clinical neuroscience
28451935	Single nucleotide polymorphisms in genes of dopaminergic pathways are associated with bruxism.	Oporto GH 5th et al.	2018	Clinical oral investigations
28470827	Pharmacogenomics and Efficacy of Risperidone Long-Term Treatment in Thai Autistic Children and Adolescents.	Nuntamool N et al.	2017	Basic & clinical pharmacology & toxicology
28696411	Combined study of genetic and epigenetic biomarker risperidone treatment efficacy in Chinese Han schizophrenia patients.	Shi Y et al.	2017	Translational psychiatry
28777361	[Associations between chronotype, road accidents and polymorphisms in genes linked with biological clock and dopaminergic system].	Taranov AO et al.	2017	Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
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
28940477	cAMP levels in lymphocytes and CD4(+) regulatory T-cell functions are affected by dopamine receptor gene polymorphisms.	Cosentino M et al.	2018	Immunology
29135816	Dopaminergic Genetic Variants and Voluntary Externally Paced Exercise Behavior.	VAN DER Mee DJ et al.	2018	Medicine and science in sports and exercise
29200860	No association between dopamine D3 receptor gene Ser9Gly polymorphism (rs6280) and risk of schizophrenia: an updated meta-analysis.	Qi XL et al.	2017	Neuropsychiatric disease and treatment
29249220	DRD3 Ser9Gly Polymorphism and Its Influence on Risperidone Response in Autistic Children.	Firouzabadi N et al.	2017	Journal of pharmacy & pharmaceutical sciences
29255361	Potential link between genetic polymorphisms of catechol-O-methyltransferase and dopamine receptors and treatment efficacy of risperidone on schizophrenia.	Han J et al.	2017	Neuropsychiatric disease and treatment
29361389	Behavioral addictions in early-onset Parkinson disease are associated with DRD3 variants.	Castro-Martínez XH et al.	2018	Parkinsonism & related disorders
29791666	Prevalence of polymorphisms in the ANKK1, DRD2, DRD3 genes and metabolic syndrome in refractory schizophrenia.	Pinto JAF et al.	2018	Revista latino-americana de enfermagem
29856137	Taq1A polymorphism and medication effects on inhibitory action control in Parkinson disease.	McDonell KE et al.	2018	Brain and behavior
30005280	Differential effect of the DRD3 genotype on inflammatory cytokine responses during abstinence in amphetamine-dependent women.	Kuo SC et al.	2018	Psychoneuroendocrinology
30093869	Biological Predictors of Clozapine Response: A Systematic Review.	Samanaite R et al.	2018	Frontiers in psychiatry
30363458	Dopamine Receptor D3 rs6280 is Associated with Aberrant Decision-Making in Parkinson's Disease.	Rajan R et al.	2018	Movement disorders clinical practice
30695550	[Polymorphisms in Sleep and Cognitive Function Related Genes are Associated with Vehicle Crash History in Shift Working Bus Drivers].	Dorokhov VB et al.	2017	Zhurnal vysshei nervnoi deiatelnosti imeni I P Pavlova
30745869	Dopaminergic Pathway Genes Influence Adverse Events Related to Dopaminergic Treatment in Parkinson's Disease.	Redenšek S et al.	2019	Frontiers in pharmacology
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
31156712	Clinical-Pharmacogenetic Predictive Models for Time to Occurrence of Levodopa Related Motor Complications in Parkinson's Disease.	Redenšek S et al.	2019	Frontiers in genetics
31192519	Heroin delay discounting and impulsivity: Modulation by DRD1 genetic variation.	Moses TEH et al.	2020	Addiction biology
31289926	Divergence of an association between depressive symptoms and a dopamine polygenic score in Caucasians and Asians.	Avinun R et al.	2020	European archives of psychiatry and clinical neuroscience
31520576	Effects of aripiprazole on circadian prolactin secretion related to pharmacogenetics in healthy volunteers.	Koller D et al.	2020	Basic & clinical pharmacology & toxicology
31552390	Placebo effects and the molecular biological components involved.	Cai L et al.	2019	General psychiatry
31559529	Influence of dopamine-related genes on craving, impulsivity, and aggressiveness in Korean males with alcohol use disorder.	Park CI et al.	2021	European archives of psychiatry and clinical neuroscience
31710639	Vasopressin SNP pain factors and stress in sickle cell disease.	Powell-Roach KL et al.	2019	PloS one
31744450	Neuropharmacological and Neurogenetic Correlates of Opioid Use Disorder (OUD) As a Function of Ethnicity: Relevance to Precision Addiction Medicine.	Abijo T et al.	2020	Current neuropharmacology
31798476	Association of rs4680 COMT, rs6280 DRD3, and rs7322347 5HT2A With Clinical Features of Youth-Onset Schizophrenia.	Morozova A et al.	2019	Frontiers in psychiatry
31896438	ABCB1 and DRD3 polymorphism as a response predicting biomarker and tool for pharmacogenetically guided clozapine dosing in Asian Indian treatment resistant schizophrenia patients.	M N et al.	2020	Asian journal of psychiatry
31970287	Hypomania and saccadic changes in Parkinson's disease: influence of D2 and D3 dopaminergic signalling.	Pelzer EA et al.	2020	NPJ Parkinson's disease
32139730	Exploring the role of the Ser9Gly (rs6280) Dopamine D3 receptor polymorphism in nicotine reinforcement and cue-elicited craving.	Chukwueke CC et al.	2020	Scientific reports
32316934	No association between the Ser9Gly polymorphism of the dopamine receptor D3 gene and schizophrenia: a meta-analysis of family-based association studies.	Li XN et al.	2020	BMC medical genetics
32710539	Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease.	Redenšek S et al.	2020	The international journal of neuropsychopharmacology
32998065	SNPs from BCHE and DRD3 genes associated to cocaine abuse amongst violent individuals from Sao Paulo, Brazil.	Pego AMF et al.	2020	Forensic science international
33039854	Contribution of functional dopamine D2 and D3 receptor variants to motor and non-motor symptoms of early onset Parkinson's disease.	Eryilmaz IE et al.	2020	Clinical neurology and neurosurgery
33222504	Pharmacogenomic Studies in Intellectual Disabilities and Autism Spectrum Disorder: A Systematic Review.	Yoshida K et al.	2021	Canadian journal of psychiatry. Revue canadienne de psychiatrie
33452265
33561612	Genetic variants in levodopa-induced dyskinesia (LID): A systematic review and meta-analysis.	Falla M et al.	2021	Parkinsonism & related disorders
33986383	Prediction of functional outcomes of schizophrenia with genetic biomarkers using a bagging ensemble machine learning method with feature selection.	Lin E et al.	2021	Scientific reports
34025476	Associations of Genetic Polymorphisms and Neuroimmune Markers With Some Parameters of Frontal Lobe Dysfunction in Schizophrenia.	Morozova A et al.	2021	Frontiers in psychiatry
34385834	Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process.	Borro M et al.	2021	Pharmacogenomics and personalized medicine
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
35079903	Polymorphisms of the dopamine metabolic and signaling pathways are associated with susceptibility to motor levodopa-induced complications (MLIC) in Parkinson's disease: a systematic review and meta-analysis.	Soraya GV et al.	2022	Neurological sciences
35128830	New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.	Mestiri S et al.	2022	Molecular genetics & genomic medicine
35140610	Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies.	Tsermpini EE et al.	2021	Frontiers in pharmacology
35453620	Frequency of the Dopamine Receptor D3 (rs6280) vs. Opioid Receptor µ1 (rs1799971) Polymorphic Risk Alleles in Patients with Opioid Use Disorder: A Preponderance of Dopaminergic Mechanisms?	Gondré-Lewis MC et al.	2022	Biomedicines
35455685	Dopamine DRD2 and DRD3 Polymorphisms Involvement in Nicotine Dependence in Patients with Treatment-Resistant Mental Disorders.	Del Casale A et al.	2022	Journal of personalized medicine
35904302	[Association of gene polymorphisms DRD3 rs6280, COMT rs4680 and HTR2A rs7322347 with schizophrenia].	Sofronov AG et al.	2022	Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

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

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs6280