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.
rs1800497
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr11:113400106 (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
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.272704 (72182/264690, TOPMED)A=0.264189 (65225/246888, GnomAD_exome)A=0.204778 (41712/203694, ALFA) (+ 24 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- ANKK1 : Missense Variant
- Publications
- 350 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: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 220096 | G=0.792736 | A=0.207264 |
| European | Sub | 182186 | G=0.808328 | A=0.191672 |
| African | Sub | 10042 | G=0.66132 | A=0.33868 |
| African Others | Sub | 358 | G=0.615 | A=0.385 |
| African American | Sub | 9684 | G=0.6631 | A=0.3369 |
| Asian | Sub | 3266 | G=0.5946 | A=0.4054 |
| East Asian | Sub | 2008 | G=0.5936 | A=0.4064 |
| Other Asian | Sub | 1258 | G=0.5962 | A=0.4038 |
| Latin American 1 | Sub | 604 | G=0.748 | A=0.252 |
| Latin American 2 | Sub | 1266 | G=0.6145 | A=0.3855 |
| South Asian | Sub | 4950 | G=0.7281 | A=0.2719 |
| Other | Sub | 17782 | G=0.77578 | A=0.22422 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.727296 | A=0.272704 |
| gnomAD - Exomes | Global | Study-wide | 246888 | G=0.735811 | A=0.264189 |
| gnomAD - Exomes | European | Sub | 133142 | G=0.805967 | A=0.194033 |
| gnomAD - Exomes | Asian | Sub | 48288 | G=0.67006 | A=0.32994 |
| gnomAD - Exomes | American | Sub | 34228 | G=0.55084 | A=0.44916 |
| gnomAD - Exomes | African | Sub | 15200 | G=0.65454 | A=0.34546 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10030 | G=0.85075 | A=0.14925 |
| gnomAD - Exomes | Other | Sub | 6000 | G=0.7772 | A=0.2228 |
| Allele Frequency Aggregator | Total | Global | 203694 | G=0.795222 | A=0.204778 |
| Allele Frequency Aggregator | European | Sub | 172056 | G=0.808545 | A=0.191455 |
| Allele Frequency Aggregator | Other | Sub | 16348 | G=0.77539 | A=0.22461 |
| Allele Frequency Aggregator | African | Sub | 5204 | G=0.6562 | A=0.3438 |
| Allele Frequency Aggregator | South Asian | Sub | 4950 | G=0.7281 | A=0.2719 |
| Allele Frequency Aggregator | Asian | Sub | 3266 | G=0.5946 | A=0.4054 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 1266 | G=0.6145 | A=0.3855 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 604 | G=0.748 | A=0.252 |
| gnomAD - Genomes | Global | Study-wide | 140122 | G=0.743067 | A=0.256933 |
| gnomAD - Genomes | European | Sub | 75892 | G=0.80181 | A=0.19819 |
| gnomAD - Genomes | African | Sub | 41992 | G=0.66027 | A=0.33973 |
| gnomAD - Genomes | American | Sub | 13654 | G=0.68280 | A=0.31720 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | G=0.8308 | A=0.1692 |
| gnomAD - Genomes | East Asian | Sub | 3118 | G=0.5997 | A=0.4003 |
| gnomAD - Genomes | Other | Sub | 2144 | G=0.7416 | A=0.2584 |
| ExAC | Global | Study-wide | 110734 | G=0.724059 | A=0.275941 |
| ExAC | Europe | Sub | 66572 | G=0.79554 | A=0.20446 |
| ExAC | Asian | Sub | 23624 | G=0.65408 | A=0.34592 |
| ExAC | American | Sub | 10786 | G=0.51075 | A=0.48925 |
| ExAC | African | Sub | 8954 | G=0.6288 | A=0.3712 |
| ExAC | Other | Sub | 798 | G=0.784 | A=0.216 |
| The PAGE Study | Global | Study-wide | 78242 | G=0.66091 | A=0.33909 |
| The PAGE Study | AfricanAmerican | Sub | 32228 | G=0.66213 | A=0.33787 |
| The PAGE Study | Mexican | Sub | 10774 | G=0.57750 | A=0.42250 |
| The PAGE Study | Asian | Sub | 8270 | G=0.6352 | A=0.3648 |
| The PAGE Study | PuertoRican | Sub | 7884 | G=0.7305 | A=0.2695 |
| The PAGE Study | NativeHawaiian | Sub | 4508 | G=0.6293 | A=0.3707 |
| The PAGE Study | Cuban | Sub | 4222 | G=0.7838 | A=0.2162 |
| The PAGE Study | Dominican | Sub | 3816 | G=0.7186 | A=0.2814 |
| The PAGE Study | CentralAmerican | Sub | 2450 | G=0.6363 | A=0.3637 |
| The PAGE Study | SouthAmerican | Sub | 1976 | G=0.6265 | A=0.3735 |
| The PAGE Study | NativeAmerican | Sub | 1258 | G=0.6828 | A=0.3172 |
| The PAGE Study | SouthAsian | Sub | 856 | G=0.694 | A=0.306 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.62853 | A=0.37147 |
| 8.3KJPN | JAPANESE | Study-wide | 16758 | G=0.62728 | A=0.37272 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6766 | A=0.3234 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.6165 | A=0.3835 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.8183 | A=0.1817 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.6830 | A=0.3170 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.5991 | A=0.4009 |
| 1000Genomes_30x | American | Sub | 980 | G=0.688 | A=0.312 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.6743 | A=0.3257 |
| 1000Genomes | African | Sub | 1322 | G=0.6150 | A=0.3850 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.5942 | A=0.4058 |
| 1000Genomes | Europe | Sub | 1006 | G=0.8121 | A=0.1879 |
| 1000Genomes | South Asian | Sub | 978 | G=0.685 | A=0.315 |
| 1000Genomes | American | Sub | 694 | G=0.689 | A=0.311 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.7989 | A=0.2011 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8137 | A=0.1863 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8050 | A=0.1950 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.5973 | A=0.4027 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2078 | G=0.7146 | A=0.2854 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 468 | G=0.611 | A=0.389 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | G=0.826 | A=0.174 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | G=0.829 | A=0.171 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 318 | G=0.836 | A=0.164 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | G=0.661 | A=0.339 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 214 | G=0.379 | A=0.621 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | G=0.83 | A=0.17 |
| HapMap | Global | Study-wide | 1882 | G=0.6605 | A=0.3395 |
| HapMap | American | Sub | 766 | G=0.680 | A=0.320 |
| HapMap | African | Sub | 688 | G=0.624 | A=0.376 |
| HapMap | Asian | Sub | 254 | G=0.610 | A=0.390 |
| HapMap | Europe | Sub | 174 | G=0.793 | A=0.207 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.812 | A=0.188 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | G=0.582 | A=0.418 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | G=0.582 | A=0.418 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 614 | G=0.606 | A=0.394 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.835 | A=0.165 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.891 | A=0.109 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | G=0.780 | A=0.220 |
| SGDP_PRJ | Global | Study-wide | 270 | G=0.370 | A=0.630 |
| Qatari | Global | Study-wide | 216 | G=0.810 | A=0.190 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | G=0.74 | A=0.26 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.78 | A=0.23 |
| Siberian | Global | Study-wide | 20 | G=0.40 | A=0.60 |
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 11 | NC_000011.10:g.113400106G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.113270828G>A |
| ANKK1 RefSeqGene | NG_012976.1:g.17316G>A |
Gene: ANKK1, ankyrin repeat and kinase domain containing 1
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| ANKK1 transcript | NM_178510.2:c.2137G>A | E [GAG] > K [AAG] | Coding Sequence Variant |
| ankyrin repeat and protein kinase domain-containing protein 1 | NP_848605.1:p.Glu713Lys | E (Glu) > K (Lys) | Missense Variant |
| ANKK1 transcript variant X4 | XM_011542738.2:c.1948G>A | E [GAG] > K [AAG] | Coding Sequence Variant |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X4 | XP_011541040.1:p.Glu650Lys | E (Glu) > K (Lys) | Missense Variant |
| ANKK1 transcript variant X1 | XM_011542736.3:c.2170G>A | E [GAG] > K [AAG] | Coding Sequence Variant |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X1 | XP_011541038.1:p.Glu724Lys | E (Glu) > K (Lys) | Missense Variant |
| ANKK1 transcript variant X2 | XM_017017475.2:c.2167G>A | E [GAG] > K [AAG] | Coding Sequence Variant |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X2 | XP_016872964.1:p.Glu723Lys | E (Glu) > K (Lys) | Missense Variant |
| ANKK1 transcript variant X3 | XM_011542737.3:c.2140G>A | E [GAG] > K [AAG] | Coding Sequence Variant |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X3 | XP_011541039.1:p.Glu714Lys | E (Glu) > K (Lys) | Missense 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:
17144
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000002186.6 | Dopamine receptor d2, reduced brain density of | Benign |
| RCV000594759.4 | 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 |
|---|---|---|
| GRCh38.p14 chr 11 | NC_000011.10:g.113400106= | NC_000011.10:g.113400106G>A |
| GRCh37.p13 chr 11 | NC_000011.9:g.113270828= | NC_000011.9:g.113270828G>A |
| ANKK1 RefSeqGene | NG_012976.1:g.17316= | NG_012976.1:g.17316G>A |
| ANKK1 transcript | NM_178510.2:c.2137= | NM_178510.2:c.2137G>A |
| ANKK1 transcript | NM_178510.1:c.2137= | NM_178510.1:c.2137G>A |
| ANKK1 transcript variant X1 | XM_011542736.3:c.2170= | XM_011542736.3:c.2170G>A |
| ANKK1 transcript variant X1 | XM_011542736.2:c.2170= | XM_011542736.2:c.2170G>A |
| ANKK1 transcript variant X1 | XM_011542736.1:c.2170= | XM_011542736.1:c.2170G>A |
| ANKK1 transcript variant X3 | XM_011542737.3:c.2140= | XM_011542737.3:c.2140G>A |
| ANKK1 transcript variant X3 | XM_011542737.2:c.2140= | XM_011542737.2:c.2140G>A |
| ANKK1 transcript variant X2 | XM_011542737.1:c.2140= | XM_011542737.1:c.2140G>A |
| ANKK1 transcript variant X4 | XM_011542738.2:c.1948= | XM_011542738.2:c.1948G>A |
| ANKK1 transcript variant X3 | XM_011542738.1:c.1948= | XM_011542738.1:c.1948G>A |
| ANKK1 transcript variant X2 | XM_017017475.2:c.2167= | XM_017017475.2:c.2167G>A |
| ANKK1 transcript variant X2 | XM_017017475.1:c.2167= | XM_017017475.1:c.2167G>A |
| ankyrin repeat and protein kinase domain-containing protein 1 | NP_848605.1:p.Glu713= | NP_848605.1:p.Glu713Lys |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X1 | XP_011541038.1:p.Glu724= | XP_011541038.1:p.Glu724Lys |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X3 | XP_011541039.1:p.Glu714= | XP_011541039.1:p.Glu714Lys |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X4 | XP_011541040.1:p.Glu650= | XP_011541040.1:p.Glu650Lys |
| ankyrin repeat and protein kinase domain-containing protein 1 isoform X2 | XP_016872964.1:p.Glu723= | XP_016872964.1:p.Glu723Lys |
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#.
150 SubSNP,
27 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | HGBASE | ss2420597 | Nov 14, 2000 (89) |
| 2 | SNP500CANCER | ss5586480 | Jul 02, 2003 (116) |
| 3 | KIDDLAB | ss6312581 | Feb 20, 2003 (113) |
| 4 | WI_SSAHASNP | ss6826700 | Feb 20, 2003 (113) |
| 5 | SC_SNP | ss15908242 | Feb 27, 2004 (120) |
| 6 | PERLEGEN | ss24101885 | Sep 20, 2004 (123) |
| 7 | ILLUMINA | ss65730830 | Oct 15, 2006 (127) |
| 8 | ILLUMINA | ss66577871 | Nov 30, 2006 (127) |
| 9 | ILLUMINA | ss67197003 | Nov 30, 2006 (127) |
| 10 | ILLUMINA | ss67585954 | Nov 30, 2006 (127) |
| 11 | PERLEGEN | ss69329205 | May 17, 2007 (127) |
| 12 | RSG_JCVI | ss69359384 | May 17, 2007 (127) |
| 13 | ILLUMINA | ss70675215 | May 25, 2008 (130) |
| 14 | ILLUMINA | ss71238225 | May 17, 2007 (127) |
| 15 | CANCER-GENOME | ss74802346 | Dec 07, 2007 (129) |
| 16 | ILLUMINA | ss74957775 | Dec 07, 2007 (129) |
| 17 | SI_EXO | ss76886889 | Dec 07, 2007 (129) |
| 18 | ILLUMINA | ss79094223 | Dec 15, 2007 (130) |
| 19 | KRIBB_YJKIM | ss83877441 | Dec 15, 2007 (130) |
| 20 | BCMHGSC_JDW | ss88801118 | Mar 24, 2008 (129) |
| 21 | BGI | ss103002112 | Dec 01, 2009 (131) |
| 22 | 1000GENOMES | ss111100465 | Jan 25, 2009 (130) |
| 23 | ILLUMINA | ss121814140 | Dec 01, 2009 (131) |
| 24 | ENSEMBL | ss132838621 | Dec 01, 2009 (131) |
| 25 | ILLUMINA | ss153736377 | Dec 01, 2009 (131) |
| 26 | ILLUMINA | ss159329743 | Dec 01, 2009 (131) |
| 27 | ILLUMINA | ss170815425 | Jul 04, 2010 (132) |
| 28 | ILLUMINA | ss172924778 | Jul 04, 2010 (132) |
| 29 | BUSHMAN | ss203227903 | Jul 04, 2010 (132) |
| 30 | 1000GENOMES | ss225469562 | Jul 14, 2010 (132) |
| 31 | 1000GENOMES | ss235724742 | Jul 15, 2010 (132) |
| 32 | 1000GENOMES | ss242321833 | Jul 15, 2010 (132) |
| 33 | OMICIA | ss244238897 | May 27, 2010 (132) |
| 34 | OMIM-CURATED-RECORDS | ss256301920 | Aug 25, 2010 (132) |
| 35 | GMI | ss281176532 | May 04, 2012 (137) |
| 36 | GMI | ss286460473 | Apr 25, 2013 (138) |
| 37 | PJP | ss291142824 | May 09, 2011 (134) |
| 38 | 1000GENOMES | ss491029412 | May 04, 2012 (137) |
| 39 | EXOME_CHIP | ss491459270 | May 04, 2012 (137) |
| 40 | CLINSEQ_SNP | ss491654180 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss536418635 | Sep 08, 2015 (146) |
| 42 | TISHKOFF | ss562835308 | Apr 25, 2013 (138) |
| 43 | SSMP | ss658358351 | Apr 25, 2013 (138) |
| 44 | NHLBI-ESP | ss713049528 | Apr 25, 2013 (138) |
| 45 | ILLUMINA | ss783591418 | Sep 08, 2015 (146) |
| 46 | ILLUMINA | ss825424741 | Apr 01, 2015 (144) |
| 47 | ILLUMINA | ss832841752 | Aug 21, 2014 (142) |
| 48 | ILLUMINA | ss833432582 | Aug 21, 2014 (142) |
| 49 | JMKIDD_LAB | ss974481186 | Aug 21, 2014 (142) |
| 50 | EVA-GONL | ss988978248 | Aug 21, 2014 (142) |
| 51 | JMKIDD_LAB | ss1067528205 | Aug 21, 2014 (142) |
| 52 | JMKIDD_LAB | ss1078056467 | Aug 21, 2014 (142) |
| 53 | 1000GENOMES | ss1343024241 | Aug 21, 2014 (142) |
| 54 | DDI | ss1426765523 | Apr 01, 2015 (144) |
| 55 | EVA_GENOME_DK | ss1575961511 | Apr 01, 2015 (144) |
| 56 | EVA_FINRISK | ss1584078065 | Apr 01, 2015 (144) |
| 57 | EVA_DECODE | ss1598644247 | Apr 01, 2015 (144) |
| 58 | EVA_UK10K_ALSPAC | ss1627494158 | Apr 01, 2015 (144) |
| 59 | EVA_UK10K_TWINSUK | ss1670488191 | Apr 01, 2015 (144) |
| 60 | EVA_EXAC | ss1690636946 | Apr 01, 2015 (144) |
| 61 | EVA_MGP | ss1711309105 | Apr 01, 2015 (144) |
| 62 | EVA_SVP | ss1713285855 | Apr 01, 2015 (144) |
| 63 | MGLAB_FHMS_UPM | ss1713988439 | Sep 08, 2015 (146) |
| 64 | ILLUMINA | ss1751995127 | Sep 08, 2015 (146) |
| 65 | HAMMER_LAB | ss1807003618 | Sep 08, 2015 (146) |
| 66 | ILLUMINA | ss1917866588 | Feb 12, 2016 (147) |
| 67 | WEILL_CORNELL_DGM | ss1932339395 | Feb 12, 2016 (147) |
| 68 | ILLUMINA | ss1946323044 | Feb 12, 2016 (147) |
| 69 | ILLUMINA | ss1959386568 | Feb 12, 2016 (147) |
| 70 | JJLAB | ss2026913593 | Sep 14, 2016 (149) |
| 71 | USC_VALOUEV | ss2155226133 | Dec 20, 2016 (150) |
| 72 | HUMAN_LONGEVITY | ss2185828636 | Dec 20, 2016 (150) |
| 73 | SYSTEMSBIOZJU | ss2627931627 | Nov 08, 2017 (151) |
| 74 | ILLUMINA | ss2635030576 | Nov 08, 2017 (151) |
| 75 | GRF | ss2699536289 | Nov 08, 2017 (151) |
| 76 | ILLUMINA | ss2710746402 | Nov 08, 2017 (151) |
| 77 | ILLUMINA | ss2710746403 | Nov 08, 2017 (151) |
| 78 | GNOMAD | ss2739395011 | Nov 08, 2017 (151) |
| 79 | GNOMAD | ss2748741613 | Nov 08, 2017 (151) |
| 80 | GNOMAD | ss2904623316 | Nov 08, 2017 (151) |
| 81 | AFFY | ss2984957612 | Nov 08, 2017 (151) |
| 82 | AFFY | ss2985599017 | Nov 08, 2017 (151) |
| 83 | SWEGEN | ss3008803499 | Nov 08, 2017 (151) |
| 84 | ILLUMINA | ss3021377277 | Nov 08, 2017 (151) |
| 85 | BIOINF_KMB_FNS_UNIBA | ss3027257465 | Nov 08, 2017 (151) |
| 86 | CSHL | ss3349801555 | Nov 08, 2017 (151) |
| 87 | ILLUMINA | ss3625609786 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3626753102 | Oct 12, 2018 (152) |
| 89 | ILLUMINA | ss3634475970 | Oct 12, 2018 (152) |
| 90 | ILLUMINA | ss3637931192 | Oct 12, 2018 (152) |
| 91 | ILLUMINA | ss3638979289 | Oct 12, 2018 (152) |
| 92 | ILLUMINA | ss3639490894 | Oct 12, 2018 (152) |
| 93 | ILLUMINA | ss3640183306 | Oct 12, 2018 (152) |
| 94 | ILLUMINA | ss3642927602 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3644575907 | Oct 12, 2018 (152) |
| 96 | OMUKHERJEE_ADBS | ss3646432885 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3651744838 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3653729740 | Oct 12, 2018 (152) |
| 99 | EGCUT_WGS | ss3676131048 | Jul 13, 2019 (153) |
| 100 | EVA_DECODE | ss3692627226 | Jul 13, 2019 (153) |
| 101 | ACPOP | ss3738552457 | Jul 13, 2019 (153) |
| 102 | ILLUMINA | ss3744387604 | Jul 13, 2019 (153) |
| 103 | ILLUMINA | ss3744776746 | Jul 13, 2019 (153) |
| 104 | EVA | ss3749830010 | Jul 13, 2019 (153) |
| 105 | PAGE_CC | ss3771653418 | Jul 13, 2019 (153) |
| 106 | ILLUMINA | ss3772276511 | Jul 13, 2019 (153) |
| 107 | KHV_HUMAN_GENOMES | ss3815160308 | Jul 13, 2019 (153) |
| 108 | EVA | ss3824672258 | Apr 26, 2020 (154) |
| 109 | EVA | ss3825809595 | Apr 26, 2020 (154) |
| 110 | EVA | ss3832846103 | Apr 26, 2020 (154) |
| 111 | EVA | ss3839985391 | Apr 26, 2020 (154) |
| 112 | EVA | ss3845467105 | Apr 26, 2020 (154) |
| 113 | HGDP | ss3847431833 | Apr 26, 2020 (154) |
| 114 | SGDP_PRJ | ss3877167223 | Apr 26, 2020 (154) |
| 115 | KRGDB | ss3925625288 | Apr 26, 2020 (154) |
| 116 | FSA-LAB | ss3984013684 | Apr 26, 2021 (155) |
| 117 | EVA | ss3984657499 | Apr 26, 2021 (155) |
| 118 | EVA | ss3985557875 | Apr 26, 2021 (155) |
| 119 | EVA | ss3986056777 | Apr 26, 2021 (155) |
| 120 | EVA | ss3986545710 | Apr 26, 2021 (155) |
| 121 | EVA | ss4017559748 | Apr 26, 2021 (155) |
| 122 | TOPMED | ss4900493065 | Apr 26, 2021 (155) |
| 123 | TOMMO_GENOMICS | ss5203954645 | Apr 26, 2021 (155) |
| 124 | EVA | ss5236899635 | Apr 26, 2021 (155) |
| 125 | EVA | ss5237658565 | Oct 16, 2022 (156) |
| 126 | 1000G_HIGH_COVERAGE | ss5288952918 | Oct 16, 2022 (156) |
| 127 | TRAN_CS_UWATERLOO | ss5314433305 | Oct 16, 2022 (156) |
| 128 | EVA | ss5315577731 | Oct 16, 2022 (156) |
| 129 | EVA | ss5402336556 | Oct 16, 2022 (156) |
| 130 | HUGCELL_USP | ss5483936873 | Oct 16, 2022 (156) |
| 131 | 1000G_HIGH_COVERAGE | ss5585464238 | Oct 16, 2022 (156) |
| 132 | EVA | ss5624025655 | Oct 16, 2022 (156) |
| 133 | SANFORD_IMAGENETICS | ss5624285903 | Oct 16, 2022 (156) |
| 134 | SANFORD_IMAGENETICS | ss5652101448 | Oct 16, 2022 (156) |
| 135 | TOMMO_GENOMICS | ss5752420792 | Oct 16, 2022 (156) |
| 136 | EVA | ss5799403778 | Oct 16, 2022 (156) |
| 137 | EVA | ss5799445308 | Oct 16, 2022 (156) |
| 138 | EVA | ss5800064018 | Oct 16, 2022 (156) |
| 139 | YY_MCH | ss5812789095 | Oct 16, 2022 (156) |
| 140 | EVA | ss5837249525 | Oct 16, 2022 (156) |
| 141 | EVA | ss5847398036 | Oct 16, 2022 (156) |
| 142 | EVA | ss5847648550 | Oct 16, 2022 (156) |
| 143 | EVA | ss5848337385 | Oct 16, 2022 (156) |
| 144 | EVA | ss5850157055 | Oct 16, 2022 (156) |
| 145 | EVA | ss5921716559 | Oct 16, 2022 (156) |
| 146 | EVA | ss5936550543 | Oct 16, 2022 (156) |
| 147 | EVA | ss5943431917 | Oct 16, 2022 (156) |
| 148 | EVA | ss5979372178 | Oct 16, 2022 (156) |
| 149 | EVA | ss5980703514 | Oct 16, 2022 (156) |
| 150 | EVA | ss5981271315 | Oct 16, 2022 (156) |
| 151 | 1000Genomes | NC_000011.9 - 113270828 | Oct 12, 2018 (152) |
| 152 | 1000Genomes_30x | NC_000011.10 - 113400106 | Oct 16, 2022 (156) |
| 153 | The Avon Longitudinal Study of Parents and Children | NC_000011.9 - 113270828 | Oct 12, 2018 (152) |
| 154 | Genetic variation in the Estonian population | NC_000011.9 - 113270828 | Oct 12, 2018 (152) |
| 155 | ExAC | NC_000011.9 - 113270828 | Oct 12, 2018 (152) |
| 156 | FINRISK | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 157 | The Danish reference pan genome | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 158 | gnomAD - Genomes | NC_000011.10 - 113400106 | Apr 26, 2021 (155) |
| 159 | gnomAD - Exomes | NC_000011.9 - 113270828 | Jul 13, 2019 (153) |
| 160 | Genome of the Netherlands Release 5 | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 161 | HGDP-CEPH-db Supplement 1 | NC_000011.8 - 112776038 | Apr 26, 2020 (154) |
| 162 | HapMap | NC_000011.10 - 113400106 | Apr 26, 2020 (154) |
| 163 | KOREAN population from KRGDB | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 164 | Medical Genome Project healthy controls from Spanish population | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 165 | Northern Sweden | NC_000011.9 - 113270828 | Jul 13, 2019 (153) |
| 166 | The PAGE Study | NC_000011.10 - 113400106 | Jul 13, 2019 (153) |
| 167 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000011.9 - 113270828 | Apr 26, 2021 (155) |
| 168 | CNV burdens in cranial meningiomas | NC_000011.9 - 113270828 | Apr 26, 2021 (155) |
| 169 | Qatari | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 170 | SGDP_PRJ | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 171 | Siberian | NC_000011.9 - 113270828 | Apr 26, 2020 (154) |
| 172 | 8.3KJPN | NC_000011.9 - 113270828 | Apr 26, 2021 (155) |
| 173 | 14KJPN | NC_000011.10 - 113400106 | Oct 16, 2022 (156) |
| 174 | TopMed | NC_000011.10 - 113400106 | Apr 26, 2021 (155) |
| 175 | UK 10K study - Twins | NC_000011.9 - 113270828 | Oct 12, 2018 (152) |
| 176 | A Vietnamese Genetic Variation Database | NC_000011.9 - 113270828 | Jul 13, 2019 (153) |
| 177 | ALFA | NC_000011.10 - 113400106 | Apr 26, 2021 (155) |
| 178 | ClinVar | RCV000002186.6 | Oct 16, 2022 (156) |
| 179 | ClinVar | RCV000594759.4 | Oct 16, 2022 (156) |
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) |
|---|---|
| rs4134623 | Nov 14, 2002 (109) |
| rs4245144 | Apr 07, 2003 (113) |
| rs59538675 | May 25, 2008 (130) |
| rs117686243 | Aug 16, 2010 (132) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 109725, ss88801118, ss111100465, ss203227903, ss281176532, ss286460473, ss291142824, ss491654180, ss825424741, ss1598644247, ss1713285855, ss2635030576, ss3638979289, ss3639490894, ss3642927602, ss3847431833 | NC_000011.8:112776037:G:A | NC_000011.10:113400105:G:A | (self) |
| 55608667, 30866624, 21869296, 913318, 74526, 2741402, 8613677, 13774840, 32802682, 424865, 11837322, 783802, 206984, 14381325, 29184203, 7742487, 61923952, 30866624, 6850605, ss225469562, ss235724742, ss242321833, ss491029412, ss491459270, ss536418635, ss562835308, ss658358351, ss713049528, ss783591418, ss832841752, ss833432582, ss974481186, ss988978248, ss1067528205, ss1078056467, ss1343024241, ss1426765523, ss1575961511, ss1584078065, ss1627494158, ss1670488191, ss1690636946, ss1711309105, ss1751995127, ss1807003618, ss1917866588, ss1932339395, ss1946323044, ss1959386568, ss2026913593, ss2155226133, ss2627931627, ss2699536289, ss2710746402, ss2710746403, ss2739395011, ss2748741613, ss2904623316, ss2984957612, ss2985599017, ss3008803499, ss3021377277, ss3349801555, ss3625609786, ss3626753102, ss3634475970, ss3637931192, ss3640183306, ss3644575907, ss3646432885, ss3651744838, ss3653729740, ss3676131048, ss3738552457, ss3744387604, ss3744776746, ss3749830010, ss3772276511, ss3824672258, ss3825809595, ss3832846103, ss3839985391, ss3877167223, ss3925625288, ss3984013684, ss3984657499, ss3985557875, ss3986056777, ss3986545710, ss4017559748, ss5203954645, ss5315577731, ss5402336556, ss5624025655, ss5624285903, ss5652101448, ss5799403778, ss5799445308, ss5800064018, ss5837249525, ss5847398036, ss5847648550, ss5848337385, ss5936550543, ss5943431917, ss5979372178, ss5980703514, ss5981271315 | NC_000011.9:113270827:G:A | NC_000011.10:113400105:G:A | (self) |
| RCV000002186.6, RCV000594759.4, 72990173, 392389826, 702376, 874887, 86257896, 116038721, 3751454244, ss244238897, ss256301920, ss1713988439, ss2185828636, ss3027257465, ss3692627226, ss3771653418, ss3815160308, ss3845467105, ss4900493065, ss5236899635, ss5237658565, ss5288952918, ss5314433305, ss5483936873, ss5585464238, ss5752420792, ss5812789095, ss5850157055, ss5921716559 | NC_000011.10:113400105:G:A | NC_000011.10:113400105:G:A | (self) |
| ss15908242 | NT_033899.6:16814613:G:A | NC_000011.10:113400105:G:A | (self) |
| ss76886889 | NT_033899.7:16833243:G:A | NC_000011.10:113400105:G:A | (self) |
| ss2420597, ss5586480, ss6312581, ss6826700, ss24101885, ss65730830, ss66577871, ss67197003, ss67585954, ss69329205, ss69359384, ss70675215, ss71238225, ss74802346, ss74957775, ss79094223, ss83877441, ss103002112, ss121814140, ss132838621, ss153736377, ss159329743, ss170815425, ss172924778 | NT_033899.8:16833243:G:A | NC_000011.10:113400105:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
350
citations for rs1800497
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 1969501 | Allelic association of human dopamine D2 receptor gene in alcoholism. | Blum K et al. | 1990 | JAMA |
| 9429233 | D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. | Thompson J et al. | 1997 | Pharmacogenetics |
| 9650634 | The D2 dopamine receptor gene: a review of association studies in alcoholism and phenotypes. | Noble EP et al. | 1998 | Alcohol (Fayetteville, N.Y.) |
| 10395223 | Polymorphisms in the dopamine D2 receptor gene and their relationships to striatal dopamine receptor density of healthy volunteers. | Jönsson EG et al. | 1999 | Molecular psychiatry |
| 11105655 | Reward deficiency syndrome: genetic aspects of behavioral disorders. | Comings DE et al. | 2000 | Progress in brain research |
| 15146457 | Identification and characterization of ANKK1: a novel kinase gene closely linked to DRD2 on chromosome band 11q23.1. | Neville MJ et al. | 2004 | Human mutation |
| 15370155 | The genetic basis for smoking behavior: a systematic review and meta-analysis. | Munafò M et al. | 2004 | Nicotine & tobacco research |
| 15479180 | Progress in searching for susceptibility loci and genes for smoking-related behaviour. | Li MD et al. | 2004 | Clinical genetics |
| 15492764 | Dopamine receptor DRD2 genotype and smoking cessation outcome following treatment with bupropion SR. | Swan GE et al. | 2005 | The pharmacogenomics journal |
| 16380908 | Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder. | Hawi Z et al. | 2005 | American journal of human genetics |
| 17135598 | No evidence for a major role of polymorphisms during bupropion treatment. | Hu J et al. | 2006 | Obesity (Silver Spring, Md.) |
| 17417059 | A dopamine D2 receptor gene-related polymorphism is associated with schizophrenia in a Spanish population isolate. | Parsons MJ et al. | 2007 | Psychiatric genetics |
| 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 |
| 17483451 | Gene-gene interaction associated with neural reward sensitivity. | Yacubian J et al. | 2007 | Proceedings of the National Academy of Sciences of the United States of America |
| 17585060 | Genetic variants in the DRD2 gene moderate the relationship between stressful life events and depressive symptoms in adults: cardiovascular risk in young Finns study. | Elovainio M et al. | 2007 | Psychosomatic medicine |
| 17654295 | Pharmacogenetic clinical trial of sustained-release bupropion for smoking cessation. | David SP et al. | 2007 | Nicotine & tobacco research |
| 17767146 | Meta-analysis of two dopamine D2 receptor gene polymorphisms with tardive dyskinesia in schizophrenia patients. | Zai CC et al. | 2007 | Molecular psychiatry |
| 17908762 | Dopamine receptor D2 gene Taq1A (C32806T) polymorphism modifies the relationship between birth weight and educational attainment in adulthood: 21-year follow-up of the Cardiovascular Risk in Young Finns study. | Keltikangas-Järvinen L et al. | 2007 | Pediatrics |
| 17989061 | Meta-analysis of the association of the Taq1A polymorphism with the risk of alcohol dependency: a HuGE gene-disease association review. | Smith L et al. | 2008 | American journal of epidemiology |
| 18058343 | Bupropion efficacy for smoking cessation is influenced by the DRD2 Taq1A polymorphism: analysis of pooled data from two clinical trials. | David SP et al. | 2007 | Nicotine & tobacco research |
| 18063800 | Genetically determined differences in learning from errors. | Klein TA et al. | 2007 | Science (New York, N.Y.) |
| 18077373 | Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory. | Zhang Y et al. | 2007 | Proceedings of the National Academy of Sciences of the United States of America |
| 18086475 | Gene polymorphism influencing treatment response in psychotic patients in a naturalistic setting. | Alenius M et al. | 2008 | Journal of psychiatric research |
| 18154681 | A lesson not learned: allele misassignment. | Sand PG et al. | 2007 | Behavioral and brain functions |
| 18180754 | Antipsychotic-induced tardive dyskinesia and polymorphic variations in COMT, DRD2, CYP1A2 and MnSOD genes: a meta-analysis of pharmacogenetic interactions. | Bakker PR et al. | 2008 | Molecular psychiatry |
| 18305461 | Association between ADORA2A and DRD2 polymorphisms and caffeine-induced anxiety. | Childs E et al. | 2008 | Neuropsychopharmacology |
| 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 |
| 18354387 | Significant association of ANKK1 and detection of a functional polymorphism with nicotine dependence in an African-American sample. | Huang W et al. | 2009 | Neuropsychopharmacology |
| 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 |
| 18563706 | The impact of genetic variation in DRD2 and SLC6A3 on smoking cessation in a cohort of participants 1 year after enrollment in a lung cancer screening study. | Styn MA et al. | 2009 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18579277 | Association between dopamine-related polymorphisms and plasma concentrations of prolactin during risperidone treatment in schizophrenic patients. | Yasui-Furukori N et al. | 2008 | Progress in neuro-psychopharmacology & biological psychiatry |
| 18621654 | Comment on "Genetically determined differences in learning from errors". | Lucht M et al. | 2008 | Science (New York, N.Y.) |
| 18690117 | Gene and gene by sex associations with initial sensitivity to nicotine in nonsmokers. | Perkins KA et al. | 2008 | Behavioural pharmacology |
| 18698520 | Single nucleotide polymorphisms in ANKK1 and the dopamine D2 receptor gene affect cognitive outcome shortly after traumatic brain injury: a replication and extension study. | McAllister TW et al. | 2008 | Brain injury |
| 18715757 | Genetic associations with schizophrenia: meta-analyses of 12 candidate genes. | Shi J et al. | 2008 | Schizophrenia research |
| 18781856 | Genetic underpinnings of tardive dyskinesia: passing the baton to pharmacogenetics. | Thelma B et al. | 2008 | Pharmacogenomics |
| 18855532 | Variants of dopamine and serotonin candidate genes as predictors of response to risperidone treatment in first-episode schizophrenia. | Ikeda M et al. | 2008 | Pharmacogenomics |
| 18927395 | Relation between obesity and blunted striatal response to food is moderated by TaqIA A1 allele. | Stice E et al. | 2008 | Science (New York, N.Y.) |
| 19065655 | Dopamine D2 receptor polymorphisms and adenoma recurrence in the Polyp Prevention Trial. | Murphy G et al. | 2009 | International journal of cancer |
| 19238152 | Interaction between dopamine D2 receptor genotype and parental rule-setting in adolescent alcohol use: evidence for a gene-parenting interaction. | van der Zwaluw CS et al. | 2010 | Molecular psychiatry |
| 19258022 | Now or Later? An fMRI study of the effects of endogenous opioid blockade on a decision-making network. | Boettiger CA et al. | 2009 | Pharmacology, biochemistry, and behavior |
| 19273465 | Lack of association of DRD2 rs1800497 (Taq1A) polymorphism with smoking cessation in a nicotine replacement therapy randomized trial. | Munafò MR et al. | 2009 | Nicotine & tobacco research |
| 19285111 | C957T polymorphism of the human dopamine D2 receptor gene predicts extrastriatal dopamine receptor availability in vivo. | Hirvonen MM et al. | 2009 | Progress in neuro-psychopharmacology & biological psychiatry |
| 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 |
| 19321766 | Dopamine DRD2 polymorphism alters reversal learning and associated neural activity. | Jocham G et al. | 2009 | The Journal of neuroscience |
| 19339912 | Variants of the dopamine D2 receptor gene and risperidone-induced hyperprolactinemia in children and adolescents. | Calarge CA et al. | 2009 | Pharmacogenetics and genomics |
| 19344737 | Associations of the DRD2 TaqIA polymorphism with impulsivity and substance use: preliminary results from a clinical sample of adolescents. | Esposito-Smythers C et al. | 2009 | Pharmacology, biochemistry, and behavior |
| 19373123 | Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution. | Doehring A et al. | 2009 | Pharmacogenetics and genomics |
| 19393722 | Genetic contributions to avoidance-based decisions: striatal D2 receptor polymorphisms. | Frank MJ et al. | 2009 | Neuroscience |
| 19470168 | NPAS2 and PER2 are linked to risk factors of the metabolic syndrome. | Englund A et al. | 2009 | Journal of circadian rhythms |
| 19512960 | Genetic diagnostics of functional variants of the human dopamine D2 receptor gene. | Doehring A et al. | 2009 | Psychiatric genetics |
| 19526298 | The ANKK1 kinase gene and psychiatric disorders. | Ponce G et al. | 2009 | Neurotoxicity research |
| 19664686 | Potential association of DRD2 and DAT1 genetic variation with heroin dependence. | Hou QF et al. | 2009 | Neuroscience letters |
| 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 |
| 19793394 | Haplotype frequencies at the DRD2 locus in populations of the East European Plain. | Flegontova OV et al. | 2009 | BMC genetics |
| 19796663 | Influence of DRD2 and ANKK1 genotypes on apomorphine-induced growth hormone (GH) response in alcohol-dependent patients. | Lucht M et al. | 2010 | Progress in neuro-psychopharmacology & biological psychiatry |
| 19925838 | Parental control and the dopamine D2 receptor gene (DRD2) interaction on emotional eating in adolescence. | van Strien T et al. | 2010 | Appetite |
| 20133381 | Sex differences in TTC12/ANKK1 haplotype associations with daily tobacco smoking in Black and White Americans. | David SP et al. | 2010 | Nicotine & tobacco research |
| 20138949 | A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes. | Dubertret C et al. | 2010 | Progress in neuro-psychopharmacology & biological psychiatry |
| 20146828 | Dopamine D2 receptor polymorphisms and susceptibility to alcohol dependence in Indian males: a preliminary study. | Prasad P et al. | 2010 | BMC medical genetics |
| 20180986 | CLOCK is suggested to associate with comorbid alcohol use and depressive disorders. | Sjöholm LK et al. | 2010 | Journal of circadian rhythms |
| 20191112 | The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives. | Pinheiro AP et al. | 2009 | International journal of child and adolescent health |
| 20199723 | [DRD2/ANKK1 Taq IA polymorphism and early infant temperament]. | Ma J et al. | 2010 | Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics |
| 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 |
| 20350135 | Prospective association of dopamine-related polymorphisms with smoking cessation in general care. | Breitling LP et al. | 2010 | Pharmacogenomics |
| 20446882 | Do candidate genes discriminate patients with an autism spectrum disorder from those with attention deficit/hyperactivity disorder and is there an effect of lifetime substance use disorders? | Sizoo B et al. | 2010 | The world journal of biological psychiatry |
| 20452395 | Association of functional variants in the dopamine D2-like receptors with risk for gambling behaviour in healthy Caucasian subjects. | Lobo DS et al. | 2010 | Biological psychology |
| 20482509 | Pharmacogenetics of alcohol and alcohol dependence treatment. | Kranzler HR et al. | 2010 | Current pharmaceutical design |
| 20505554 | Association study between the DAT1, DBH and DRD2 genes and cocaine dependence in a Spanish sample. | Fernàndez-Castillo N et al. | 2010 | Psychiatric genetics |
| 20549395 | Genetics of post-traumatic stress disorder: review and recommendations for genome-wide association studies. | Cornelis MC et al. | 2010 | Current psychiatry reports |
| 20567893 | Association between polymorphisms of the dopamine receptor D2 and catechol-o-methyl transferase genes and cognitive function. | Bolton JL et al. | 2010 | Behavior genetics |
| 20714340 | Systematic analysis of dopamine receptor genes (DRD1-DRD5) in antipsychotic-induced weight gain. | Müller DJ et al. | 2012 | The pharmacogenomics journal |
| 20732903 | Predicting sensation seeking from dopamine genes. A candidate-system approach. | Derringer J et al. | 2010 | Psychological science |
| 20736885 | PharmGKB summary: dopamine receptor D2. | Mi H et al. | 2011 | Pharmacogenetics and genomics |
| 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 |
| 21097659 | Interaction effect of functional variants of the BDNF and DRD2/ANKK1 gene is associated with alexithymia in healthy human subjects. | Walter NT et al. | 2011 | Psychosomatic medicine |
| 21150907 | Intronic polymorphisms affecting alternative splicing of human dopamine D2 receptor are associated with cocaine abuse. | Moyer RA et al. | 2011 | Neuropsychopharmacology |
| 21162693 | Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction. | Zhang JP et al. | 2011 | Expert opinion on drug metabolism & toxicology |
| 21168125 | TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood. | Ducci F et al. | 2011 | Biological psychiatry |
| 21172166 | Pharmacogenetics of antidepressant response. | Porcelli S et al. | 2011 | Journal of psychiatry & neuroscience |
| 21244440 | Risky alcohol use in adolescence: the role of genetics (DRD2, SLC6A4) and coping motives. | van der Zwaluw CS et al. | 2011 | Alcoholism, clinical and experimental research |
| 21333900 | The role of genetics in IBS. | Saito YA et al. | 2011 | Gastroenterology clinics of North America |
| 21456129 | Single nucleotide polymorphism genotyping and point mutation detection by ligation on microarrays. | Li Y et al. | 2011 | Journal of nanoscience and nanotechnology |
| 21499988 | Addictive genes and the relationship to obesity and inflammation. | Heber D et al. | 2011 | Molecular neurobiology |
| 21502949 | Discovery and replication of dopamine-related gene effects on caudate volume in young and elderly populations (N=1198) using genome-wide search. | Stein JL et al. | 2011 | Molecular psychiatry |
| 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 |
| 21527290 | Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood. | Nemoda Z et al. | 2011 | Neuroscience and biobehavioral reviews |
| 21540761 | Association between DRD2/ANKK1 Taq1A genotypes, depression and smoking cessation with nicotine replacement therapy. | Stapleton JA et al. | 2011 | Pharmacogenetics and genomics |
| 21593733 | Multilocus genetic profile for dopamine signaling predicts ventral striatum reactivity. | Nikolova YS et al. | 2011 | Neuropsychopharmacology |
| 21645585 | Resting posterior minus frontal EEG slow oscillations is associated with extraversion and DRD2 genotype. | Koehler S et al. | 2011 | Biological psychology |
| 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 |
| 21714067 | Association between polymorphisms of DRD2 and DRD4 and opioid dependence: evidence from the current studies. | Chen D et al. | 2011 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 21728034 | Methamphetamine-associated psychosis. | Grant KM et al. | 2012 | Journal of neuroimmune pharmacology |
| 21749372 | Dopaminergic, serotonergic, and oxytonergic candidate genes associated with infant attachment security and disorganization? In search of main and interaction effects. | Luijk MP et al. | 2011 | Journal of child psychology and psychiatry, and allied disciplines |
| 21778150 | A preliminary analysis of interactions between genotype, retrospective ADHD symptoms, and initial reactions to smoking in a sample of young adults. | Bidwell LC et al. | 2012 | Nicotine & tobacco research |
| 21781348 | Genetic polymorphisms involved in dopaminergic neurotransmission and risk for Parkinson's disease in a Japanese population. | Kiyohara C et al. | 2011 | BMC neurology |
| 21797889 | The relationship between rs3779084 in the dopa decarboxylase (DDC) gene and alcohol consumption is mediated by drinking motives in regular smokers. | Kristjansson SD et al. | 2012 | Alcoholism, clinical and experimental research |
| 21910549 | Genetic predictors of cue- and stress-induced cigarette craving: an exploratory study. | Erblich J et al. | 2012 | Experimental and clinical psychopharmacology |
| 21948099 | Can the chronic administration of the combination of buprenorphine and naloxone block dopaminergic activity causing anti-reward and relapse potential? | Blum K et al. | 2011 | Molecular neurobiology |
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| 30235667 | Genetic polymorphisms of pharmacogenomic VIP variants in the Lisu population of southwestern China: A cohort study. | Li B et al. | 2018 | Medicine |
| 30353454 | DRD2/ANKK1 TaqI A1 polymorphism associates with overconsumption of unhealthy foods and biochemical abnormalities in a Mexican population. | Rivera-Iñiguez I et al. | 2019 | Eating and weight disorders |
| 30353564 | The influence of SLC6A3 and DRD2 polymorphisms on levodopa-therapy in patients with sporadic Parkinson's disease. | Dos Santos EUD et al. | 2019 | The Journal of pharmacy and pharmacology |
| 30389402 | An association study of dopaminergic (DRD2) and serotoninergic (5-HT2) gene polymorphism and schizophrenia in a North Indian population. | Kaur G et al. | 2019 | Asian journal of psychiatry |
| 30408108 | Vulnerable combinations of functional dopaminergic polymorphisms to late-onset treatment resistant schizophrenia. | Oishi K et al. | 2018 | PloS one |
| 30409984 | Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. | John SE et al. | 2018 | Scientific reports |
| 30586202 | Polymorphisms in dopaminergic genes predict proactive processes of response inhibition. | Beu ND et al. | 2019 | The European journal of neuroscience |
| 30607769 | Pharmacogenetic Correlates of Antipsychotic-Induced Weight Gain in the Chinese Population. | Luo C et al. | 2019 | Neuroscience bulletin |
| 30663487 | Genetic and Environmental Risk Factors for Cannabis Use: Preliminary Results for the Role of Parental Care Perception. | Gerra MC et al. | 2019 | Substance use & misuse |
| 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 |
| 30973927 | Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome. | Cassão VD et al. | 2019 | PloS one |
| 31019283 | Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. | Thauvin-Robinet C et al. | 2019 | European journal of human genetics |
| 31033149 | Genetic influences on the variability of response to repetitive transcranial magnetic stimulation in human pharyngeal motor cortex. | Raginis-Zborowska A et al. | 2019 | Neurogastroenterology and motility |
| 31077873 | Genetic contribution to PONV risk. | Klenke S et al. | 2020 | Anaesthesia, critical care & pain medicine |
| 31103213 | Relationship between ANKK1 rs1800497 polymorphism, overweight and executive dysfunction in early psychosis. | Sanchez-Gistau V et al. | 2019 | Schizophrenia research |
| 31144779 | Dopamine receptor D2 and ankyrin repeat domain containing one in temporomandibular disorder of adolescents. | Franco GB et al. | 2019 | International journal of paediatric dentistry |
| 31223835 | ||||
| 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 |
| 31291235 | The Role of TaqI DRD2 (rs1800497) and DRD4 VNTR Polymorphisms in Posttraumatic Stress Disorder (PTSD). | Hoxha B et al. | 2019 | Psychiatria Danubina |
| 31303260 | Which Dopamine Polymorphisms Are Functional? Systematic Review and Meta-analysis of COMT, DAT, DBH, DDC, DRD1-5, MAOA, MAOB, TH, VMAT1, and VMAT2. | Tunbridge EM et al. | 2019 | Biological psychiatry |
| 31331851 | Impact of orthognathic surgery on quality of life: Predisposing clinical and genetic factors. | Gabardo M et al. | 2019 | Journal of cranio-maxillo-facial surgery |
| 31404557 | Genetic variations in the dopamine reward system influence exercise reinforcement and tolerance for exercise intensity. | Flack K et al. | 2019 | Behavioural brain research |
| 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 |
| 31702801 | Assessment of the Association of D2 Dopamine Receptor Gene and Reported Allele Frequencies With Alcohol Use Disorders: A Systematic Review and Meta-analysis. | Jung Y et al. | 2019 | JAMA network open |
| 31708815 | No Influence of Dopamine System Gene Variations on Acute Effects of MDMA. | Vizeli P et al. | 2019 | Frontiers in psychiatry |
| 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 |
| 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 |
| 32020513 | Associations of the ANKK1 and DRD2 gene polymorphisms with overweight, obesity and hedonic hunger among women from the Northwest of Iran. | Aliasghari F et al. | 2021 | Eating and weight disorders |
| 32090582 | Genetic variation of the dopamine D2 receptor gene: association with the reinforcing value of food and eating in the absence of hunger in Chilean children. | Obregón AM et al. | 2020 | Nutricion hospitalaria |
| 32303037 | Remission Is not Associated with DRD2 rs1800497 and DAT1 rs28363170 Genetic Variants in Male Schizophrenic Patients after 6-months Monotherapy with Olanzapine. | Zivkovic M et al. | 2020 | Psychiatria Danubina |
| 32351415 | Does DRD2 Taq1A Mediate Aripiprazole-Induced Gambling Disorder? A Pharmacogenetic Hypothesis. | Miuli A et al. | 2020 | Frontiers in psychiatry |
| 32565876 | Association between DRD2 and ANKK1 polymorphisms with the deficit syndrome in schizophrenia. | Michalczyk A et al. | 2020 | Annals of general psychiatry |
| 32588604 | Significant association of DRD2 and ANKK1 genes with rural heroin dependence and relapse in men. | Lachowicz M et al. | 2020 | Annals of agricultural and environmental medicine |
| 32623490 | Genetic risks of schizophrenia identified in a matched case-control study. | Oishi K et al. | 2021 | European archives of psychiatry and clinical neuroscience |
| 32745832 | Suicidal ideation and aggression in childhood, genetic variation and young adult depression. | Hill SY et al. | 2020 | Journal of affective disorders |
| 32764574 | D2 dopamine receptor gene (DRD2) Taq1A (rs1800497) affects bone density. | Chiang TI et al. | 2020 | Scientific reports |
| 32827391 | Pharmacogenetics of antipsychotics in adolescents with acute psychotic episode during first 14 days after admission: effectiveness and safety evaluation. | Ivashchenko DV et al. | 2020 | Drug metabolism and personalized therapy |
| 32889058 | Epistatic effect of Ankyrin repeat and kinase domain containing 1 - Dopamine receptor D2 and catechol-o-methyltransferase single nucleotide polymorphisms on the risk for hazardous use of alcohol in Lithuanian population. | Kaminskaite M et al. | 2021 | Gene |
| 33100325 | Higher BMI, but not obesity-related genetic polymorphisms, correlates with lower structural connectivity of the reward network in a population-based study. | Beyer F et al. | 2021 | International journal of obesity (2005) |
| 33167416 | Dopamine Receptor D2 Gene (DRD2) Polymorphisms, Job Stress, and Their Interaction on Sleep Dysfunction. | Jiang Y et al. | 2020 | International journal of environmental research and public health |
| 33236485 | Weight-loss response to naltrexone/bupropion is modulated by the Taq1A genetic variant near DRD2 (rs1800497): A pilot study. | Mullally JA et al. | 2021 | Diabetes, obesity & metabolism |
| 33244961 | [The role of genetic factors in the development of suicidal behavior in individuals with dependence on synthetic cathinones]. | Gareeva AE et al. | 2020 | Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova |
| 33287325 | Smoking Genes: A Case-Control Study of Dopamine Transporter Gene (SLC6A3) and Dopamine Receptor Genes (DRD1, DRD2 and DRD3) Polymorphisms and Smoking Behaviour in a Malay Male Cohort. | Ruzilawati AB et al. | 2020 | Biomolecules |
| 33360592 | Fluoride exposure, dopamine relative gene polymorphism and intelligence: A cross-sectional study in China. | Zhao L et al. | 2021 | Ecotoxicology and environmental safety |
| 33452265 | ||||
| 33519226 | Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon. | Fernandes MR et al. | 2021 | Pharmacogenomics and personalized medicine |
| 33524518 | Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region. | Mestiri S et al. | 2021 | Gene |
| 33529975 | Cortical mediation of relationships between dopamine receptor D2 and cognition is absent in youth at risk of bipolar disorder. | Overs BJ et al. | 2021 | Psychiatry research. Neuroimaging |
| 33738781 | Association of the dopamine D2 receptor rs1800497 polymorphism with food addiction, food reinforcement, and eating behavior in Chilean adults. | Obregón AM et al. | 2022 | Eating and weight disorders |
| 33897514 | Functional Polymorphisms in Oxytocin and Dopamine Pathway Genes and the Development of Dispositional Compassion Over Time: The Young Finns Study. | Dobewall H et al. | 2021 | Frontiers in psychology |
| 34086098 | The DRD2 Taq1A polymorphism moderates the effect of PTSD symptom severity on the left hippocampal CA3 volume: a pilot study. | Yuan M et al. | 2022 | Psychopharmacology |
| 34151861 | Clinical and Genetic Analysis of Psychosis in Parkinson's Disease. | Radojević B et al. | 2021 | Journal of Parkinson's disease |
| 34174344 | Polygenic risk of genes involved in the catecholamine and serotonin pathways for ADHD in children. | Wang Y et al. | 2021 | Neuroscience letters |
| 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 |
| 34390874 | Enhancing dopamine tone modulates global and local cortical perfusion as a function of COMT val158met genotype. | Furman DJ et al. | 2021 | NeuroImage |
| 34420901 | Genotypes of ANKK1 and DRD2 genes and risk of metabolic syndrome and its components: A cross-sectional study on Iranian women. | Aliasghari F et al. | 2021 | Obesity research & clinical practice |
| 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 |
| 34440413 | Analysis of Selected Variants of DRD2 and ANKK1 Genes in Combat Athletes. | Michałowska-Sawczyn M et al. | 2021 | Genes |
| 34453125 | Molecular genetics of cocaine use disorders in humans. | Fernàndez-Castillo N et al. | 2022 | Molecular psychiatry |
| 34478125 | DRD2 and BDNF polymorphisms are associated with binge eating disorder in patients with weight regain after bariatric surgery. | Nonino CB et al. | 2022 | Eating and weight disorders |
| 34515911 | Monoaminergic Multilocus Genetic Variants Interact with Stressful Life Events in Predicting Changes in Adolescent Anxiety Symptoms: A One-year Longitudinal Study. | Cao C et al. | 2021 | Journal of youth and adolescence |
| 34518136 | Genetic polymorphisms are associated with alterations in anxiety levels and vital signs in patients undergoing third molar extractions. | Calixto RD et al. | 2022 | Oral surgery, oral medicine, oral pathology and oral radiology |
| 34594253 | Research on the Effects of Occupational Stress and the DRD2 Gene on the Psychological Health of Workers in the Xinjiang Desert Oil Field. | Jiang T et al. | 2021 | Frontiers in psychiatry |
| 34924970 | A Genetic Variation in the Y Chromosome Among Modern Japanese Males Related to Several Physiological and Psychological Characteristics. | Matsunaga M et al. | 2021 | Frontiers in behavioral neuroscience |
| 34958284 | Warfarin Pharmacogenomics for Precision Medicine in Real-Life Clinical Practice in Southern Africa: Harnessing 73 Variants in 29 Pharmacogenes. | Muyambo S et al. | 2022 | Omics |
| 35053751 | The Role of Dopaminergic Genes in Probabilistic Reinforcement Learning in Schizophrenia Spectrum Disorders. | Frydecka D et al. | 2021 | Brain sciences |
| 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 |
| 35140610 | Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies. | Tsermpini EE et al. | 2021 | Frontiers in pharmacology |
| 35328003 | Interaction Effects of DRD2 Genetic Polymorphism and Interpersonal Stress on Problematic Gaming in College Students. | Kim E et al. | 2022 | Genes |
| 35398727 | The correlation between genetic factors and freezing of gait in patients with Parkinson's disease. | Radojević B et al. | 2022 | Parkinsonism & related disorders |
| 35411010 | Clustering of Parkinson subtypes reveals strong influence of DRD2 polymorphism and gender. | Pelzer EA et al. | 2022 | Scientific reports |
| 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 |
| 35457347 | Influence of COMT (rs4680) and DRD2 (rs1076560, rs1800497) Gene Polymorphisms on Safety and Efficacy of Methylphenidate Treatment in Children with Fetal Alcohol Spectrum Disorders. | Śmiarowska M et al. | 2022 | International journal of environmental research and public health |
| 35499926 | Translational Genomic Research: The Association between Genetic Profiles and Cognitive Functioning or Cardiac Function Among Breast Cancer Survivors Completing Chemotherapy. | Park JY et al. | 2022 | Biological research for nursing |
| 35564336 | Impact of the DRD2 Polymorphisms on the Effectiveness of the Training Program. | Świtała K et al. | 2022 | International journal of environmental research and public health |
| 35629112 | FOXN3 and GDNF Polymorphisms as Common Genetic Factors of Substance Use and Addictive Behaviors. | Vereczkei A et al. | 2022 | Journal of personalized medicine |
| 35935430 | ANKK1 and TH gene variants in combination with paternal maltreatment increase susceptibility to both cognitive and attentive impulsivity. | Palumbo S et al. | 2022 | Frontiers in psychiatry |
| 36043564 | Temporomandibular disorder in construction workers associated with ANKK1 and DRD2 genes. | Baratto SSP et al. | 2022 | Brazilian dental journal |
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
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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.
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.