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.
rs27072
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:1394407 (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>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.173497 (45923/264690, TOPMED)T=0.171284 (36515/213184, ALFA)T=0.172250 (24126/140064, GnomAD) (+ 19 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SLC6A3 : 3 Prime UTR Variant
- Publications
- 41 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 | 213184 | C=0.828716 | A=0.000000, T=0.171284 |
| European | Sub | 186408 | C=0.830045 | A=0.000000, T=0.169955 |
| African | Sub | 6796 | C=0.9052 | A=0.0000, T=0.0948 |
| African Others | Sub | 232 | C=0.909 | A=0.000, T=0.091 |
| African American | Sub | 6564 | C=0.9051 | A=0.0000, T=0.0949 |
| Asian | Sub | 720 | C=0.719 | A=0.000, T=0.281 |
| East Asian | Sub | 588 | C=0.724 | A=0.000, T=0.276 |
| Other Asian | Sub | 132 | C=0.697 | A=0.000, T=0.303 |
| Latin American 1 | Sub | 806 | C=0.856 | A=0.000, T=0.144 |
| Latin American 2 | Sub | 6618 | C=0.7811 | A=0.0000, T=0.2189 |
| South Asian | Sub | 5010 | C=0.7489 | A=0.0000, T=0.2511 |
| Other | Sub | 6826 | C=0.8293 | A=0.0000, T=0.1707 |
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 | C=0.826503 | T=0.173497 |
| Allele Frequency Aggregator | Total | Global | 213184 | C=0.828716 | A=0.000000, T=0.171284 |
| Allele Frequency Aggregator | European | Sub | 186408 | C=0.830045 | A=0.000000, T=0.169955 |
| Allele Frequency Aggregator | Other | Sub | 6826 | C=0.8293 | A=0.0000, T=0.1707 |
| Allele Frequency Aggregator | African | Sub | 6796 | C=0.9052 | A=0.0000, T=0.0948 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6618 | C=0.7811 | A=0.0000, T=0.2189 |
| Allele Frequency Aggregator | South Asian | Sub | 5010 | C=0.7489 | A=0.0000, T=0.2511 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 806 | C=0.856 | A=0.000, T=0.144 |
| Allele Frequency Aggregator | Asian | Sub | 720 | C=0.719 | A=0.000, T=0.281 |
| gnomAD - Genomes | Global | Study-wide | 140064 | C=0.827750 | T=0.172250 |
| gnomAD - Genomes | European | Sub | 75850 | C=0.82069 | T=0.17931 |
| gnomAD - Genomes | African | Sub | 41960 | C=0.86049 | T=0.13951 |
| gnomAD - Genomes | American | Sub | 13652 | C=0.78347 | T=0.21653 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3320 | C=0.8407 | T=0.1593 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=0.7358 | T=0.2642 |
| gnomAD - Genomes | Other | Sub | 2152 | C=0.8332 | T=0.1668 |
| The PAGE Study | Global | Study-wide | 78670 | C=0.81621 | T=0.18379 |
| The PAGE Study | AfricanAmerican | Sub | 32498 | C=0.86233 | T=0.13767 |
| The PAGE Study | Mexican | Sub | 10806 | C=0.77031 | T=0.22969 |
| The PAGE Study | Asian | Sub | 8314 | C=0.7876 | T=0.2124 |
| The PAGE Study | PuertoRican | Sub | 7916 | C=0.8322 | T=0.1678 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.6546 | T=0.3454 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.8359 | T=0.1641 |
| The PAGE Study | Dominican | Sub | 3826 | C=0.8398 | T=0.1602 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.7445 | T=0.2555 |
| The PAGE Study | SouthAmerican | Sub | 1980 | C=0.7848 | T=0.2152 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.8151 | T=0.1849 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.707 | T=0.293 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.80501 | T=0.19499 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.80883 | T=0.19117 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.7949 | T=0.2051 |
| 1000Genomes | African | Sub | 1322 | C=0.8669 | T=0.1331 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.7450 | T=0.2550 |
| 1000Genomes | Europe | Sub | 1006 | C=0.8270 | T=0.1730 |
| 1000Genomes | South Asian | Sub | 978 | C=0.724 | T=0.276 |
| 1000Genomes | American | Sub | 694 | C=0.784 | T=0.216 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4234 | C=0.7567 | T=0.2433 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.8272 | T=0.1728 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.8217 | T=0.1783 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.7608 | A=0.0048, T=0.2345 |
| HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2080 | C=0.7784 | T=0.2216 |
| HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 470 | C=0.798 | T=0.202 |
| HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.773 | T=0.227 |
| HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 348 | C=0.830 | T=0.170 |
| HGDP-CEPH-db Supplement 1 | Europe | Sub | 318 | C=0.865 | T=0.135 |
| HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.905 | T=0.095 |
| HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.537 | T=0.463 |
| HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.35 | T=0.65 |
| HapMap | Global | Study-wide | 1872 | C=0.8387 | T=0.1613 |
| HapMap | American | Sub | 766 | C=0.808 | T=0.192 |
| HapMap | African | Sub | 676 | C=0.870 | T=0.130 |
| HapMap | Asian | Sub | 254 | C=0.858 | T=0.142 |
| HapMap | Europe | Sub | 176 | C=0.824 | T=0.176 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.787 | T=0.213 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | C=0.765 | T=0.235 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | C=0.765 | T=0.235 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.770 | T=0.230 |
| Qatari | Global | Study-wide | 216 | C=0.843 | T=0.157 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 210 | C=0.748 | T=0.252 |
| SGDP_PRJ | Global | Study-wide | 196 | C=0.383 | A=0.005, T=0.612 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 64 | C=0.97 | T=0.03 |
| Siberian | Global | Study-wide | 10 | C=0.5 | T=0.5 |
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 5 | NC_000005.10:g.1394407C>A |
| GRCh38.p14 chr 5 | NC_000005.10:g.1394407C>T |
| GRCh37.p13 chr 5 | NC_000005.9:g.1394522C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.1394522C>T |
| SLC6A3 RefSeqGene | NG_015885.1:g.56022G>T |
| SLC6A3 RefSeqGene | NG_015885.1:g.56022G>A |
| GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1 | NT_187547.1:g.119602G>T |
| GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1 | NT_187547.1:g.119602G>A |
Gene: SLC6A3, solute carrier family 6 member 3
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SLC6A3 transcript | NM_001044.5:c.*328= | N/A | 3 Prime UTR Variant |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Allele: T (allele ID:
1278306
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV001707449.1 | not provided | 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 | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.1394407= | NC_000005.10:g.1394407C>A | NC_000005.10:g.1394407C>T |
| GRCh37.p13 chr 5 | NC_000005.9:g.1394522= | NC_000005.9:g.1394522C>A | NC_000005.9:g.1394522C>T |
| SLC6A3 RefSeqGene | NG_015885.1:g.56022= | NG_015885.1:g.56022G>T | NG_015885.1:g.56022G>A |
| SLC6A3 transcript | NM_001044.5:c.*328= | NM_001044.5:c.*328G>T | NM_001044.5:c.*328G>A |
| SLC6A3 transcript | NM_001044.4:c.*328= | NM_001044.4:c.*328G>T | NM_001044.4:c.*328G>A |
| GRCh38.p14 chr 5 alt locus HSCHR5_3_CTG1 | NT_187547.1:g.119602= | NT_187547.1:g.119602G>T | NT_187547.1:g.119602G>A |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
129 SubSNP,
21 Frequency,
1 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | KWOK | ss32134 | May 08, 2000 (76) |
| 2 | KWOK | ss41116 | May 08, 2000 (76) |
| 3 | SC_JCM | ss617125 | Jul 16, 2000 (80) |
| 4 | KWOK | ss1167048 | Oct 04, 2000 (86) |
| 5 | KWOK | ss1167614 | Oct 04, 2000 (86) |
| 6 | KWOK | ss1572843 | Oct 18, 2000 (87) |
| 7 | KWOK | ss1573181 | Oct 18, 2000 (87) |
| 8 | KIDDLAB | ss6312547 | Feb 20, 2003 (111) |
| 9 | WI_SSAHASNP | ss6887274 | Feb 20, 2003 (111) |
| 10 | UCSDPSYCHGEN | ss16333696 | Feb 27, 2004 (120) |
| 11 | EGP_SNPS | ss35033894 | May 24, 2005 (125) |
| 12 | ILLUMINA | ss66777154 | Dec 03, 2006 (127) |
| 13 | ILLUMINA | ss67268785 | Dec 03, 2006 (127) |
| 14 | ILLUMINA | ss67669078 | Dec 03, 2006 (127) |
| 15 | FERRELL_U_PITTSBURGH | ss69355481 | May 16, 2007 (127) |
| 16 | ILLUMINA | ss70747210 | May 24, 2008 (130) |
| 17 | ILLUMINA | ss71319067 | May 16, 2007 (127) |
| 18 | ILLUMINA | ss75766240 | Dec 07, 2007 (129) |
| 19 | SI_EXO | ss76899374 | Dec 07, 2007 (129) |
| 20 | ILLUMINA | ss79144147 | Dec 14, 2007 (130) |
| 21 | KRIBB_YJKIM | ss83353194 | Dec 14, 2007 (130) |
| 22 | SHGC | ss99307807 | Feb 04, 2009 (130) |
| 23 | BGI | ss104160088 | Dec 01, 2009 (131) |
| 24 | 1000GENOMES | ss108733755 | Jan 23, 2009 (130) |
| 25 | ILLUMINA | ss122088865 | Dec 01, 2009 (131) |
| 26 | ILLUMINA | ss154229211 | Dec 01, 2009 (131) |
| 27 | ILLUMINA | ss159405755 | Dec 01, 2009 (131) |
| 28 | ILLUMINA | ss160571638 | Dec 01, 2009 (131) |
| 29 | COMPLETE_GENOMICS | ss165997978 | Jul 04, 2010 (132) |
| 30 | ILLUMINA | ss171349835 | Jul 04, 2010 (132) |
| 31 | ILLUMINA | ss173436514 | Jul 04, 2010 (132) |
| 32 | BUSHMAN | ss199767992 | Jul 04, 2010 (132) |
| 33 | 1000GENOMES | ss221467217 | Jul 14, 2010 (132) |
| 34 | 1000GENOMES | ss232792575 | Jul 14, 2010 (132) |
| 35 | 1000GENOMES | ss239997239 | Jul 15, 2010 (132) |
| 36 | GMI | ss278133720 | May 04, 2012 (137) |
| 37 | ILLUMINA | ss480641086 | May 04, 2012 (137) |
| 38 | ILLUMINA | ss480656399 | May 04, 2012 (137) |
| 39 | ILLUMINA | ss481500739 | Sep 08, 2015 (146) |
| 40 | ILLUMINA | ss485115576 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss537118271 | Sep 08, 2015 (146) |
| 42 | SSMP | ss651990923 | Apr 25, 2013 (138) |
| 43 | ILLUMINA | ss779039894 | Aug 21, 2014 (142) |
| 44 | ILLUMINA | ss783004107 | Sep 08, 2015 (146) |
| 45 | ILLUMINA | ss783964515 | Aug 21, 2014 (142) |
| 46 | ILLUMINA | ss825474665 | Apr 01, 2015 (144) |
| 47 | ILLUMINA | ss832261316 | Sep 08, 2015 (146) |
| 48 | ILLUMINA | ss832917454 | Jul 13, 2019 (153) |
| 49 | ILLUMINA | ss834502712 | Aug 21, 2014 (142) |
| 50 | EVA-GONL | ss981164850 | Aug 21, 2014 (142) |
| 51 | JMKIDD_LAB | ss1072325810 | Aug 21, 2014 (142) |
| 52 | 1000GENOMES | ss1313603818 | Aug 21, 2014 (142) |
| 53 | DDI | ss1430216757 | Apr 01, 2015 (144) |
| 54 | EVA_DECODE | ss1590680871 | Apr 01, 2015 (144) |
| 55 | EVA_UK10K_ALSPAC | ss1612110713 | Apr 01, 2015 (144) |
| 56 | EVA_UK10K_TWINSUK | ss1655104746 | Apr 01, 2015 (144) |
| 57 | EVA_SVP | ss1712736939 | Apr 01, 2015 (144) |
| 58 | ILLUMINA | ss1752551214 | Sep 08, 2015 (146) |
| 59 | WEILL_CORNELL_DGM | ss1924421181 | Feb 12, 2016 (147) |
| 60 | ILLUMINA | ss1958759648 | Feb 12, 2016 (147) |
| 61 | GENOMED | ss1969991226 | Jul 19, 2016 (147) |
| 62 | USC_VALOUEV | ss2150953907 | Dec 20, 2016 (150) |
| 63 | HUMAN_LONGEVITY | ss2270766389 | Dec 20, 2016 (150) |
| 64 | ILLUMINA | ss2634234117 | Nov 08, 2017 (151) |
| 65 | ILLUMINA | ss2635140400 | Nov 08, 2017 (151) |
| 66 | GRF | ss2706475261 | Nov 08, 2017 (151) |
| 67 | ILLUMINA | ss2711026521 | Nov 08, 2017 (151) |
| 68 | AFFY | ss2985941812 | Nov 08, 2017 (151) |
| 69 | ILLUMINA | ss3022458775 | Nov 08, 2017 (151) |
| 70 | BIOINF_KMB_FNS_UNIBA | ss3025184698 | Nov 08, 2017 (151) |
| 71 | CSHL | ss3346200664 | Nov 08, 2017 (151) |
| 72 | ILLUMINA | ss3625864454 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3629159485 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3632163527 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3633362289 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3634082340 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3634987444 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3635764642 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3636696110 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3637517238 | Oct 12, 2018 (152) |
| 81 | ILLUMINA | ss3638533826 | Oct 12, 2018 (152) |
| 82 | ILLUMINA | ss3639269334 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3639657361 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3640694737 | Oct 12, 2018 (152) |
| 85 | ILLUMINA | ss3643481364 | Oct 12, 2018 (152) |
| 86 | OMUKHERJEE_ADBS | ss3646316552 | Oct 12, 2018 (152) |
| 87 | ILLUMINA | ss3652951127 | Oct 12, 2018 (152) |
| 88 | ILLUMINA | ss3652951128 | Oct 12, 2018 (152) |
| 89 | EGCUT_WGS | ss3664204326 | Jul 13, 2019 (153) |
| 90 | EVA_DECODE | ss3713954107 | Jul 13, 2019 (153) |
| 91 | ILLUMINA | ss3726206682 | Jul 13, 2019 (153) |
| 92 | ACPOP | ss3732017485 | Jul 13, 2019 (153) |
| 93 | ILLUMINA | ss3745287618 | Jul 13, 2019 (153) |
| 94 | EVA | ss3762966990 | Jul 13, 2019 (153) |
| 95 | PAGE_CC | ss3771181198 | Jul 13, 2019 (153) |
| 96 | ILLUMINA | ss3772781998 | Jul 13, 2019 (153) |
| 97 | KHV_HUMAN_GENOMES | ss3806136073 | Jul 13, 2019 (153) |
| 98 | EVA | ss3825669247 | Apr 26, 2020 (154) |
| 99 | EVA | ss3829052363 | Apr 26, 2020 (154) |
| 100 | EVA | ss3837985693 | Apr 26, 2020 (154) |
| 101 | EVA | ss3843428140 | Apr 26, 2020 (154) |
| 102 | HGDP | ss3847778375 | Apr 26, 2020 (154) |
| 103 | SGDP_PRJ | ss3861043973 | Apr 26, 2020 (154) |
| 104 | KRGDB | ss3907481288 | Apr 26, 2020 (154) |
| 105 | FSA-LAB | ss3984300949 | Apr 26, 2021 (155) |
| 106 | FSA-LAB | ss3984300950 | Apr 26, 2021 (155) |
| 107 | EVA | ss3984541550 | Apr 26, 2021 (155) |
| 108 | EVA | ss3985119536 | Apr 26, 2021 (155) |
| 109 | EVA | ss3986029832 | Apr 26, 2021 (155) |
| 110 | VINODS | ss4024243075 | Apr 26, 2021 (155) |
| 111 | GNOMAD | ss4098080775 | Apr 26, 2021 (155) |
| 112 | TOPMED | ss4647156396 | Apr 26, 2021 (155) |
| 113 | TOMMO_GENOMICS | ss5170048962 | Apr 26, 2021 (155) |
| 114 | EVA | ss5237365085 | Apr 26, 2021 (155) |
| 115 | 1000G_HIGH_COVERAGE | ss5262611335 | Oct 13, 2022 (156) |
| 116 | EVA | ss5315024842 | Oct 13, 2022 (156) |
| 117 | EVA | ss5355163734 | Oct 13, 2022 (156) |
| 118 | HUGCELL_USP | ss5460983696 | Oct 13, 2022 (156) |
| 119 | SANFORD_IMAGENETICS | ss5624579703 | Oct 13, 2022 (156) |
| 120 | TOMMO_GENOMICS | ss5705630417 | Oct 13, 2022 (156) |
| 121 | EVA | ss5799638496 | Oct 13, 2022 (156) |
| 122 | YY_MCH | ss5805951950 | Oct 13, 2022 (156) |
| 123 | EVA | ss5834410276 | Oct 13, 2022 (156) |
| 124 | EVA | ss5847259661 | Oct 13, 2022 (156) |
| 125 | EVA | ss5854645318 | Oct 13, 2022 (156) |
| 126 | EVA | ss5892685361 | Oct 13, 2022 (156) |
| 127 | EVA | ss5965434506 | Oct 13, 2022 (156) |
| 128 | EVA | ss5979728642 | Oct 13, 2022 (156) |
| 129 | EVA | ss5980274550 | Oct 13, 2022 (156) |
| 130 | 1000Genomes | NC_000005.9 - 1394522 | Oct 12, 2018 (152) |
| 131 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 1394522 | Oct 12, 2018 (152) |
| 132 | Genetic variation in the Estonian population | NC_000005.9 - 1394522 | Oct 12, 2018 (152) |
| 133 | gnomAD - Genomes | NC_000005.10 - 1394407 | Apr 26, 2021 (155) |
| 134 | Genome of the Netherlands Release 5 | NC_000005.9 - 1394522 | Apr 26, 2020 (154) |
| 135 | HGDP-CEPH-db Supplement 1 | NC_000005.8 - 1447522 | Apr 26, 2020 (154) |
| 136 | HapMap | NC_000005.10 - 1394407 | Apr 26, 2020 (154) |
| 137 | KOREAN population from KRGDB | NC_000005.9 - 1394522 | Apr 26, 2020 (154) |
| 138 | Northern Sweden | NC_000005.9 - 1394522 | Jul 13, 2019 (153) |
| 139 | The PAGE Study | NC_000005.10 - 1394407 | Jul 13, 2019 (153) |
| 140 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 1394522 | Apr 26, 2021 (155) |
| 141 | CNV burdens in cranial meningiomas | NC_000005.9 - 1394522 | Apr 26, 2021 (155) |
| 142 | Qatari | NC_000005.9 - 1394522 | Apr 26, 2020 (154) |
| 143 | SGDP_PRJ | NC_000005.9 - 1394522 | Apr 26, 2020 (154) |
| 144 | Siberian | NC_000005.9 - 1394522 | Apr 26, 2020 (154) |
| 145 | 8.3KJPN | NC_000005.9 - 1394522 | Apr 26, 2021 (155) |
| 146 | 14KJPN | NC_000005.10 - 1394407 | Oct 13, 2022 (156) |
| 147 | TopMed | NC_000005.10 - 1394407 | Apr 26, 2021 (155) |
| 148 | UK 10K study - Twins | NC_000005.9 - 1394522 | Oct 12, 2018 (152) |
| 149 | A Vietnamese Genetic Variation Database | NC_000005.9 - 1394522 | Jul 13, 2019 (153) |
| 150 | ALFA | NC_000005.10 - 1394407 | Apr 26, 2021 (155) |
| 151 | ClinVar | RCV001707449.1 | Oct 13, 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) |
|---|---|
| rs57833746 | May 24, 2008 (130) |
| rs386572356 | Aug 21, 2014 (142) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 14658682, 13060953, ss2706475261, ss3861043973, ss3907481288 | NC_000005.9:1394521:C:A | NC_000005.10:1394406:C:A | (self) |
| 11876773668, ss2270766389 | NC_000005.10:1394406:C:A | NC_000005.10:1394406:C:A | (self) |
| 456267, ss108733755, ss165997978, ss199767992, ss278133720, ss480641086, ss825474665, ss1590680871, ss1712736939, ss2635140400, ss3639269334, ss3639657361, ss3643481364, ss3847778375 | NC_000005.8:1447521:C:T | NC_000005.10:1394406:C:T | (self) |
| 25148253, 13986364, 9942574, 6208352, 14658682, 5302350, 345463, 90914, 6463111, 13060953, 3470261, 28018269, 13986364, 3100827, ss221467217, ss232792575, ss239997239, ss480656399, ss481500739, ss485115576, ss537118271, ss651990923, ss779039894, ss783004107, ss783964515, ss832261316, ss832917454, ss834502712, ss981164850, ss1072325810, ss1313603818, ss1430216757, ss1612110713, ss1655104746, ss1752551214, ss1924421181, ss1958759648, ss1969991226, ss2150953907, ss2634234117, ss2711026521, ss2985941812, ss3022458775, ss3346200664, ss3625864454, ss3629159485, ss3632163527, ss3633362289, ss3634082340, ss3634987444, ss3635764642, ss3636696110, ss3637517238, ss3638533826, ss3640694737, ss3646316552, ss3652951127, ss3652951128, ss3664204326, ss3732017485, ss3745287618, ss3762966990, ss3772781998, ss3825669247, ss3829052363, ss3837985693, ss3861043973, ss3907481288, ss3984300949, ss3984300950, ss3984541550, ss3985119536, ss3986029832, ss5170048962, ss5237365085, ss5315024842, ss5355163734, ss5624579703, ss5799638496, ss5834410276, ss5847259661, ss5965434506, ss5979728642, ss5980274550 | NC_000005.9:1394521:C:T | NC_000005.10:1394406:C:T | (self) |
| RCV001707449.1, 177855871, 2790058, 402667, 39467521, 484533953, 11876773668, ss2270766389, ss3025184698, ss3713954107, ss3726206682, ss3771181198, ss3806136073, ss3843428140, ss4098080775, ss4647156396, ss5262611335, ss5460983696, ss5705630417, ss5805951950, ss5854645318, ss5892685361 | NC_000005.10:1394406:C:T | NC_000005.10:1394406:C:T | (self) |
| ss76899374 | NT_006576.15:1384521:C:T | NC_000005.10:1394406:C:T | (self) |
| ss32134, ss41116, ss617125, ss1167048, ss1167614, ss1572843, ss1573181, ss6312547, ss6887274, ss16333696, ss35033894, ss66777154, ss67268785, ss67669078, ss69355481, ss70747210, ss71319067, ss75766240, ss79144147, ss83353194, ss99307807, ss104160088, ss122088865, ss154229211, ss159405755, ss160571638, ss171349835, ss173436514 | NT_006576.16:1384521:C:T | NC_000005.10:1394406:C:T | (self) |
| ss4024243075 | NT_187547.1:119601:G:A | NC_000005.10:1394406:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
41
citations for rs27072
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 14685824 | Association between polymorphism of the dopamine transporter gene and early smoking onset: an interaction risk on nicotine dependence. | Ling D et al. | 2004 | Journal of human genetics |
| 16082693 | Sequence variation in the 3'-untranslated region of the dopamine transporter gene and attention-deficit hyperactivity disorder (ADHD). | Feng Y et al. | 2005 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18070248 | The 3' part of the dopamine transporter gene DAT1/SLC6A3 is associated with withdrawal seizures in patients with alcohol dependence. | Le Strat Y et al. | 2008 | Alcoholism, clinical and experimental research |
| 18165969 | Association of the dopamine transporter gene and ADHD symptoms in a Canadian population-based sample of same-age twins. | Ouellet-Morin I et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18690117 | Gene and gene by sex associations with initial sensitivity to nicotine in nonsmokers. | Perkins KA et al. | 2008 | Behavioural pharmacology |
| 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 |
| 19494806 | Dopamine genes and nicotine dependence in treatment-seeking and community smokers. | Bergen AW et al. | 2009 | Neuropsychopharmacology |
| 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 |
| 19740369 | The interaction between the dopamine transporter gene and age at onset in relation to tobacco and alcohol use among 19-year-olds. | Schmid B et al. | 2009 | Addiction biology |
| 19879111 | Association of promoter variants of human dopamine transporter gene with schizophrenia in Han Chinese. | Huang SY et al. | 2010 | Schizophrenia research |
| 20505557 | Haplotypes of dopamine and serotonin transporter genes are associated with antisocial personality disorder in alcoholics. | Reese J et al. | 2010 | Psychiatric genetics |
| 20580759 | Pharacogenetic effects of dopamine transporter gene polymorphisms on response to chlorpromazine and clozapine and on extrapyramidal syndrome in schizophrenia. | Xu M et al. | 2010 | Progress in neuro-psychopharmacology & biological psychiatry |
| 20732623 | Measured gene-by-environment interaction in relation to attention-deficit/hyperactivity disorder. | Nigg J et al. | 2010 | Journal of the American Academy of Child and Adolescent Psychiatry |
| 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 |
| 20732627 | Case-control genome-wide association study of attention-deficit/hyperactivity disorder. | Neale BM et al. | 2010 | Journal of the American Academy of Child and Adolescent Psychiatry |
| 21354244 | The role of dopamine transporter (SLC6A3) and dopamine D2 receptor/ankyrin repeat and kinase domain containing 1 (DRD2/ANKK1) gene polymorphisms in personality traits. | Kazantseva A et al. | 2011 | Progress in neuro-psychopharmacology & biological psychiatry |
| 21525861 | Dopamine transporter gene variant affecting expression in human brain is associated with bipolar disorder. | Pinsonneault JK et al. | 2011 | Neuropsychopharmacology |
| 21527290 | Psychopathological aspects of dopaminergic gene polymorphisms in adolescence and young adulthood. | Nemoda Z et al. | 2011 | Neuroscience and biobehavioral reviews |
| 22832821 | Working memory brain activity and capacity link MAOA polymorphism to aggressive behavior during development. | Ziermans T et al. | 2012 | Translational psychiatry |
| 23049896 | Results of genome-wide analyses on neurodevelopmental phenotypes at four-year follow-up following cardiac surgery in infancy. | Kim DS et al. | 2012 | PloS one |
| 23340505 | Dopamine transporter DAT and receptor DRD2 variants affect risk of lethal cocaine abuse: a gene-gene-environment interaction. | Sullivan D et al. | 2013 | Translational psychiatry |
| 23647133 | The association of a novel haplotype in the dopamine transporter with preschool age posttraumatic stress disorder. | Drury SS et al. | 2013 | Journal of child and adolescent psychopharmacology |
| 24780147 | Association of dopamine gene variants, emotion dysregulation and ADHD in autism spectrum disorder. | Gadow KD et al. | 2014 | Research in developmental disabilities |
| 24889756 | Preliminary investigation of the influence of dopamine regulating genes on social working memory. | Dumontheil I et al. | 2014 | Social neuroscience |
| 25324626 | Research in China on the molecular genetics of schizophrenia. | Cui D et al. | 2012 | Shanghai archives of psychiatry |
| 25545355 | Genetic variants and early cigarette smoking and nicotine dependence phenotypes in adolescents. | O'Loughlin J et al. | 2014 | PloS one |
| 25683821 | The dopamine transporter gene may not contribute to susceptibility and the specific personality traits of amphetamine dependence. | Tzeng NS et al. | 2015 | Drug and alcohol dependence |
| 25819021 | A review of pharmacogenetic studies of substance-related disorders. | Jones JD et al. | 2015 | Drug and alcohol dependence |
| 25915480 | Association between the dopamine transporter gene (DAT1) and attention deficit hyperactivity disorder-related traits in healthy adults. | Jeong SH et al. | 2015 | Psychiatric genetics |
| 27093171 | Integrating Genetic, Neuropsychological and Neuroimaging Data to Model Early-Onset Obsessive Compulsive Disorder Severity. | Mas S et al. | 2016 | PloS one |
| 28139629 | [Combination of DAT and DBH gene polymorphisms with a family history of alcohol use disorders increases the risk of withdrawal seizures and delirium tremens during alcohol withdrawal in alcohol-dependent men]. | Kibitov AO et al. | 2016 | Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30242586 | The Catechol-O-Methyltransferase and Dopamine Transporter Genes Moderated the Impact of Peer Relationships on Adolescent Depressive Symptoms: A Gene-Gene-Environment Study. | Cao Y et al. | 2018 | Journal of youth and adolescence |
| 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 |
| 31440993 | A Meta-analysis of the Association Between SLC6A3 Gene Polymorphisms and Schizophrenia. | Xu FL et al. | 2020 | Journal of molecular neuroscience |
| 32736537 | Association studies of dopamine synthesis and metabolism genes with multiple phenotypes of heroin dependence. | Li Y et al. | 2020 | BMC medical genetics |
| 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 |
| 34845656 | Functional SLC6A3 polymorphisms differentially affect autism spectrum disorder severity: a study on Indian subjects. | Saha S et al. | 2022 | Metabolic brain disease |
| 35237725 | Factors in the neurodevelopment of negative urgency: Findings from a community-dwelling sample. | Evans CL et al. | 2022 | Brain and neuroscience advances |
| 35940320 | Interaction between manganese and SLC6A3 genetic polymorphisms in relation to dyslexia. | Zhu K et al. | 2022 | Neurotoxicology |
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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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.