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.
rs3813034
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr17:30197786 (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
- A>C / A>G / A>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.413042 (109328/264690, TOPMED)C=0.448675 (62452/139192, ALFA)A=0.17786 (5026/28258, 14KJPN) (+ 17 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- SLC6A4 : 3 Prime UTR Variant
- Publications
- 28 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.
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 139192 | A=0.551325 | C=0.448675, G=0.000000 |
| European | Sub | 120430 | A=0.545653 | C=0.454347, G=0.000000 |
| African | Sub | 5700 | A=0.8204 | C=0.1796, G=0.0000 |
| African Others | Sub | 216 | A=0.819 | C=0.181, G=0.000 |
| African American | Sub | 5484 | A=0.8204 | C=0.1796, G=0.0000 |
| Asian | Sub | 528 | A=0.216 | C=0.784, G=0.000 |
| East Asian | Sub | 420 | A=0.229 | C=0.771, G=0.000 |
| Other Asian | Sub | 108 | A=0.167 | C=0.833, G=0.000 |
| Latin American 1 | Sub | 654 | A=0.609 | C=0.391, G=0.000 |
| Latin American 2 | Sub | 5858 | A=0.4428 | C=0.5572, G=0.0000 |
| South Asian | Sub | 112 | A=0.580 | C=0.420, G=0.000 |
| Other | Sub | 5910 | A=0.5381 | C=0.4619, G=0.0000 |
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 | A=0.586958 | C=0.413042 |
| Allele Frequency Aggregator | Total | Global | 139192 | A=0.551325 | C=0.448675, G=0.000000 |
| Allele Frequency Aggregator | European | Sub | 120430 | A=0.545653 | C=0.454347, G=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 5910 | A=0.5381 | C=0.4619, G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5858 | A=0.4428 | C=0.5572, G=0.0000 |
| Allele Frequency Aggregator | African | Sub | 5700 | A=0.8204 | C=0.1796, G=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 654 | A=0.609 | C=0.391, G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 528 | A=0.216 | C=0.784, G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 112 | A=0.580 | C=0.420, G=0.000 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.17786 | C=0.82214 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.17524 | C=0.82476 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.5304 | C=0.4696 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.8270 | C=0.1730 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.5766 | C=0.4234 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.4426 | C=0.5574 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.1803 | C=0.8197 |
| 1000Genomes_30x | American | Sub | 980 | A=0.456 | C=0.544 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.5166 | C=0.4834 |
| 1000Genomes | African | Sub | 1322 | A=0.8200 | C=0.1800 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.1776 | C=0.8224 |
| 1000Genomes | Europe | Sub | 1006 | A=0.5646 | C=0.4354 |
| 1000Genomes | South Asian | Sub | 978 | A=0.447 | C=0.553 |
| 1000Genomes | American | Sub | 694 | A=0.460 | C=0.540 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.5395 | C=0.4605 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.5392 | C=0.4608 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.5529 | C=0.4471 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.1969 | C=0.8031, G=0.0000, T=0.0000 |
| HapMap | Global | Study-wide | 1886 | A=0.5610 | C=0.4390 |
| HapMap | American | Sub | 768 | A=0.447 | C=0.553 |
| HapMap | African | Sub | 692 | A=0.857 | C=0.143 |
| HapMap | Asian | Sub | 254 | A=0.165 | C=0.835 |
| HapMap | Europe | Sub | 172 | A=0.465 | C=0.535 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.2020 | C=0.7980 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.552 | C=0.448 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | A=0.196 | C=0.804 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | A=0.196 | C=0.804 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.492 | C=0.508 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | A=0.773 | C=0.227 |
| SGDP_PRJ | Global | Study-wide | 394 | A=0.272 | C=0.728 |
| Qatari | Global | Study-wide | 216 | A=0.620 | C=0.380 |
| Siberian | Global | Study-wide | 44 | A=0.30 | C=0.70 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.62 | C=0.38 |
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.
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.30197786A>C |
| GRCh38.p14 chr 17 | NC_000017.11:g.30197786A>G |
| GRCh38.p14 chr 17 | NC_000017.11:g.30197786A>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.28524804A>C |
| GRCh37.p13 chr 17 | NC_000017.10:g.28524804A>G |
| GRCh37.p13 chr 17 | NC_000017.10:g.28524804A>T |
| SLC6A4 RefSeqGene | NG_011747.2:g.43151T>G |
| SLC6A4 RefSeqGene | NG_011747.2:g.43151T>C |
| SLC6A4 RefSeqGene | NG_011747.2:g.43151T>A |
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| SLC6A4 transcript | NM_001045.6:c.*670= | N/A | 3 Prime UTR Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000302486.3 | Behavior disorder | Likely-Benign |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 17 | NC_000017.11:g.30197786= | NC_000017.11:g.30197786A>C | NC_000017.11:g.30197786A>G | NC_000017.11:g.30197786A>T |
| GRCh37.p13 chr 17 | NC_000017.10:g.28524804= | NC_000017.10:g.28524804A>C | NC_000017.10:g.28524804A>G | NC_000017.10:g.28524804A>T |
| SLC6A4 RefSeqGene | NG_011747.2:g.43151= | NG_011747.2:g.43151T>G | NG_011747.2:g.43151T>C | NG_011747.2:g.43151T>A |
| SLC6A4 transcript | NM_001045.6:c.*670= | NM_001045.6:c.*670T>G | NM_001045.6:c.*670T>C | NM_001045.6:c.*670T>A |
| SLC6A4 transcript | NM_001045.5:c.*670= | NM_001045.5:c.*670T>G | NM_001045.5:c.*670T>C | NM_001045.5:c.*670T>A |
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#.
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss4999443 | Aug 28, 2002 (107) |
| 2 | ABI | ss44004771 | Mar 13, 2006 (126) |
| 3 | SI_EXO | ss52078267 | Oct 16, 2006 (127) |
| 4 | ILLUMINA | ss65756766 | Oct 16, 2006 (127) |
| 5 | TAPPERS | ss69383064 | May 18, 2007 (127) |
| 6 | ILLUMINA | ss74872403 | Dec 07, 2007 (129) |
| 7 | CGM_KYOTO | ss76876388 | Dec 07, 2007 (129) |
| 8 | EGP_SNPS | ss76882962 | Dec 07, 2007 (129) |
| 9 | HGSV | ss77153660 | Dec 07, 2007 (129) |
| 10 | BCMHGSC_JDW | ss90566892 | Mar 24, 2008 (129) |
| 11 | KRIBB_YJKIM | ss104797592 | Feb 05, 2009 (130) |
| 12 | BGI | ss106503197 | Feb 05, 2009 (130) |
| 13 | 1000GENOMES | ss109713097 | Jan 24, 2009 (130) |
| 14 | KRIBB_YJKIM | ss119465043 | Dec 01, 2009 (131) |
| 15 | ENSEMBL | ss137036535 | Dec 01, 2009 (131) |
| 16 | GMI | ss157961543 | Dec 01, 2009 (131) |
| 17 | ILLUMINA | ss160646328 | Dec 01, 2009 (131) |
| 18 | COMPLETE_GENOMICS | ss168003723 | Jul 04, 2010 (132) |
| 19 | ILLUMINA | ss173650910 | Jul 04, 2010 (132) |
| 20 | BCM-HGSC-SUB | ss207925330 | Jul 04, 2010 (132) |
| 21 | 1000GENOMES | ss211788712 | Jul 14, 2010 (132) |
| 22 | 1000GENOMES | ss227511201 | Jul 14, 2010 (132) |
| 23 | 1000GENOMES | ss237217456 | Jul 15, 2010 (132) |
| 24 | 1000GENOMES | ss243521684 | Jul 15, 2010 (132) |
| 25 | GMI | ss282738687 | May 04, 2012 (137) |
| 26 | GMI | ss287168611 | Apr 25, 2013 (138) |
| 27 | PJP | ss292036319 | May 09, 2011 (134) |
| 28 | ILLUMINA | ss480847651 | May 04, 2012 (137) |
| 29 | ILLUMINA | ss480865067 | May 04, 2012 (137) |
| 30 | ILLUMINA | ss481800075 | Sep 08, 2015 (146) |
| 31 | ILLUMINA | ss485218721 | May 04, 2012 (137) |
| 32 | GSK-GENETICS | ss491252310 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss537199169 | Sep 08, 2015 (146) |
| 34 | TISHKOFF | ss565225751 | Apr 25, 2013 (138) |
| 35 | SSMP | ss661025115 | Apr 25, 2013 (138) |
| 36 | ILLUMINA | ss778525577 | Aug 21, 2014 (142) |
| 37 | ILLUMINA | ss783055314 | Aug 21, 2014 (142) |
| 38 | ILLUMINA | ss784013619 | Aug 21, 2014 (142) |
| 39 | ILLUMINA | ss832313210 | Apr 01, 2015 (144) |
| 40 | ILLUMINA | ss833982045 | Aug 21, 2014 (142) |
| 41 | EVA-GONL | ss993025762 | Aug 21, 2014 (142) |
| 42 | JMKIDD_LAB | ss1081003494 | Aug 21, 2014 (142) |
| 43 | 1000GENOMES | ss1358324806 | Aug 21, 2014 (142) |
| 44 | DDI | ss1428013001 | Apr 01, 2015 (144) |
| 45 | EVA_GENOME_DK | ss1578126972 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_ALSPAC | ss1635487377 | Apr 01, 2015 (144) |
| 47 | EVA_UK10K_TWINSUK | ss1678481410 | Apr 01, 2015 (144) |
| 48 | EVA_DECODE | ss1697066978 | Apr 01, 2015 (144) |
| 49 | EVA_MGP | ss1711455427 | Apr 01, 2015 (144) |
| 50 | EVA_SVP | ss1713576789 | Apr 01, 2015 (144) |
| 51 | ILLUMINA | ss1752220091 | Sep 08, 2015 (146) |
| 52 | HAMMER_LAB | ss1808748234 | Sep 08, 2015 (146) |
| 53 | WEILL_CORNELL_DGM | ss1936483149 | Feb 12, 2016 (147) |
| 54 | GENOMED | ss1968374757 | Jul 19, 2016 (147) |
| 55 | JJLAB | ss2029022322 | Sep 14, 2016 (149) |
| 56 | USC_VALOUEV | ss2157486224 | Dec 20, 2016 (150) |
| 57 | HUMAN_LONGEVITY | ss2216216437 | Dec 20, 2016 (150) |
| 58 | SYSTEMSBIOZJU | ss2629006937 | Nov 08, 2017 (151) |
| 59 | ILLUMINA | ss2633387063 | Nov 08, 2017 (151) |
| 60 | ILLUMINA | ss2633387064 | Nov 08, 2017 (151) |
| 61 | GRF | ss2702045783 | Nov 08, 2017 (151) |
| 62 | GNOMAD | ss2948897860 | Nov 08, 2017 (151) |
| 63 | SWEGEN | ss3015396312 | Nov 08, 2017 (151) |
| 64 | BIOINF_KMB_FNS_UNIBA | ss3028331600 | Nov 08, 2017 (151) |
| 65 | CSHL | ss3351709687 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss3627649535 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3631368820 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3633138805 | Oct 12, 2018 (152) |
| 69 | ILLUMINA | ss3633846145 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3634670350 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3635533986 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3636360348 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3637285504 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3638155798 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3640377665 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3643134726 | Oct 12, 2018 (152) |
| 77 | OMUKHERJEE_ADBS | ss3646508363 | Oct 12, 2018 (152) |
| 78 | EGCUT_WGS | ss3682301106 | Jul 13, 2019 (153) |
| 79 | EVA_DECODE | ss3700303288 | Jul 13, 2019 (153) |
| 80 | ACPOP | ss3741958353 | Jul 13, 2019 (153) |
| 81 | ILLUMINA | ss3744970664 | Jul 13, 2019 (153) |
| 82 | EVA | ss3754571694 | Jul 13, 2019 (153) |
| 83 | ILLUMINA | ss3772468597 | Jul 13, 2019 (153) |
| 84 | PACBIO | ss3788180830 | Jul 13, 2019 (153) |
| 85 | PACBIO | ss3793143024 | Jul 13, 2019 (153) |
| 86 | PACBIO | ss3798028941 | Jul 13, 2019 (153) |
| 87 | KHV_HUMAN_GENOMES | ss3819848416 | Jul 13, 2019 (153) |
| 88 | EVA | ss3825896208 | Apr 27, 2020 (154) |
| 89 | EVA | ss3834828131 | Apr 27, 2020 (154) |
| 90 | EVA | ss3841024089 | Apr 27, 2020 (154) |
| 91 | EVA | ss3846520941 | Apr 27, 2020 (154) |
| 92 | SGDP_PRJ | ss3885573590 | Apr 27, 2020 (154) |
| 93 | KRGDB | ss3935226661 | Apr 27, 2020 (154) |
| 94 | KOGIC | ss3978706624 | Apr 27, 2020 (154) |
| 95 | FSA-LAB | ss3984112063 | Apr 26, 2021 (155) |
| 96 | EVA | ss3984721768 | Apr 26, 2021 (155) |
| 97 | EVA | ss3986073748 | Apr 26, 2021 (155) |
| 98 | EVA | ss4017762199 | Apr 26, 2021 (155) |
| 99 | TOPMED | ss5033110133 | Apr 26, 2021 (155) |
| 100 | TOMMO_GENOMICS | ss5222015591 | Apr 26, 2021 (155) |
| 101 | 1000G_HIGH_COVERAGE | ss5302835750 | Oct 16, 2022 (156) |
| 102 | EVA | ss5315880967 | Oct 16, 2022 (156) |
| 103 | HUGCELL_USP | ss5495933823 | Oct 16, 2022 (156) |
| 104 | EVA | ss5511747232 | Oct 16, 2022 (156) |
| 105 | 1000G_HIGH_COVERAGE | ss5606414237 | Oct 16, 2022 (156) |
| 106 | SANFORD_IMAGENETICS | ss5624395090 | Oct 16, 2022 (156) |
| 107 | SANFORD_IMAGENETICS | ss5659938308 | Oct 16, 2022 (156) |
| 108 | TOMMO_GENOMICS | ss5778096822 | Oct 16, 2022 (156) |
| 109 | EVA | ss5799973334 | Oct 16, 2022 (156) |
| 110 | YY_MCH | ss5816474750 | Oct 16, 2022 (156) |
| 111 | EVA | ss5833871155 | Oct 16, 2022 (156) |
| 112 | EVA | ss5847793542 | Oct 16, 2022 (156) |
| 113 | EVA | ss5851778482 | Oct 16, 2022 (156) |
| 114 | EVA | ss5913637258 | Oct 16, 2022 (156) |
| 115 | EVA | ss5951335287 | Oct 16, 2022 (156) |
| 116 | EVA | ss5979504110 | Oct 16, 2022 (156) |
| 117 | 1000Genomes | NC_000017.10 - 28524804 | Oct 12, 2018 (152) |
| 118 | 1000Genomes_30x | NC_000017.11 - 30197786 | Oct 16, 2022 (156) |
| 119 | The Avon Longitudinal Study of Parents and Children | NC_000017.10 - 28524804 | Oct 12, 2018 (152) |
| 120 | Genetic variation in the Estonian population | NC_000017.10 - 28524804 | Oct 12, 2018 (152) |
| 121 | The Danish reference pan genome | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 122 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 123 |
gnomAD - Genomes
Submission ignored due to conflicting rows: |
- | Apr 26, 2021 (155) |
| 124 | Genome of the Netherlands Release 5 | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 125 | HapMap | NC_000017.11 - 30197786 | Apr 27, 2020 (154) |
| 126 | KOREAN population from KRGDB | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 127 | Korean Genome Project | NC_000017.11 - 30197786 | Apr 27, 2020 (154) |
| 128 | Medical Genome Project healthy controls from Spanish population | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 129 | Northern Sweden | NC_000017.10 - 28524804 | Jul 13, 2019 (153) |
| 130 | CNV burdens in cranial meningiomas | NC_000017.10 - 28524804 | Apr 26, 2021 (155) |
| 131 | Qatari | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 132 | SGDP_PRJ | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 133 | Siberian | NC_000017.10 - 28524804 | Apr 27, 2020 (154) |
| 134 | 8.3KJPN | NC_000017.10 - 28524804 | Apr 26, 2021 (155) |
| 135 | 14KJPN | NC_000017.11 - 30197786 | Oct 16, 2022 (156) |
| 136 | TopMed | NC_000017.11 - 30197786 | Apr 26, 2021 (155) |
| 137 | UK 10K study - Twins | NC_000017.10 - 28524804 | Oct 12, 2018 (152) |
| 138 | ALFA | NC_000017.11 - 30197786 | Apr 26, 2021 (155) |
| 139 | ClinVar | RCV000302486.3 | Oct 16, 2022 (156) |
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).
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss77153660, ss90566892, ss109713097, ss160646328, ss168003723, ss207925330, ss211788712, ss282738687, ss287168611, ss292036319, ss480847651, ss491252310, ss1697066978, ss1713576789, ss3643134726 | NC_000017.9:25548929:A:C | NC_000017.11:30197785:A:C | (self) |
| 71554474, 39665315, 28039354, 4330457, 17681744, 42404055, 571187, 15243218, 271312, 18525071, 37590570, 10002578, 79984898, 39665315, ss227511201, ss237217456, ss243521684, ss480865067, ss481800075, ss485218721, ss537199169, ss565225751, ss661025115, ss778525577, ss783055314, ss784013619, ss832313210, ss833982045, ss993025762, ss1081003494, ss1358324806, ss1428013001, ss1578126972, ss1635487377, ss1678481410, ss1711455427, ss1752220091, ss1808748234, ss1936483149, ss1968374757, ss2029022322, ss2157486224, ss2629006937, ss2633387063, ss2633387064, ss2702045783, ss2948897860, ss3015396312, ss3351709687, ss3627649535, ss3631368820, ss3633138805, ss3633846145, ss3634670350, ss3635533986, ss3636360348, ss3637285504, ss3638155798, ss3640377665, ss3646508363, ss3682301106, ss3741958353, ss3744970664, ss3754571694, ss3772468597, ss3788180830, ss3793143024, ss3798028941, ss3825896208, ss3834828131, ss3841024089, ss3885573590, ss3935226661, ss3984112063, ss3984721768, ss3986073748, ss4017762199, ss5222015591, ss5315880967, ss5511747232, ss5624395090, ss5659938308, ss5799973334, ss5833871155, ss5847793542, ss5951335287, ss5979504110 | NC_000017.10:28524803:A:C | NC_000017.11:30197785:A:C | (self) |
| RCV000302486.3, 93940172, 1474634, 35084625, 111933926, 248655795, 1621642220, ss2216216437, ss3028331600, ss3700303288, ss3819848416, ss3846520941, ss3978706624, ss5033110133, ss5302835750, ss5495933823, ss5606414237, ss5778096822, ss5816474750, ss5851778482, ss5913637258 | NC_000017.11:30197785:A:C | NC_000017.11:30197785:A:C | (self) |
| ss52078267 | NT_010799.14:3261796:A:C | NC_000017.11:30197785:A:C | (self) |
| ss4999443, ss44004771, ss65756766, ss69383064, ss74872403, ss76876388, ss76882962, ss104797592, ss106503197, ss119465043, ss137036535, ss157961543, ss173650910 | NT_010799.15:3261797:A:C | NC_000017.11:30197785:A:C | (self) |
| 42404055, ss3935226661 | NC_000017.10:28524803:A:G | NC_000017.11:30197785:A:G | (self) |
| 1621642220 | NC_000017.11:30197785:A:G | NC_000017.11:30197785:A:G | (self) |
| 42404055, ss3935226661 | NC_000017.10:28524803:A:T | NC_000017.11:30197785:A:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 18792946 | Detailed analysis of the serotonin transporter gene (SLC6A4) shows no association with bipolar disorder in the Northern Swedish population. | Alaerts M et al. | 2009 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19844206 | Sequence variations of ABCB1, SLC6A2, SLC6A3, SLC6A4, CREB1, CRHR1 and NTRK2: association with major depression and antidepressant response in Mexican-Americans. | Dong C et al. | 2009 | Molecular psychiatry |
| 19969287 | Association of a polyadenylation polymorphism in the serotonin transporter and panic disorder. | Gyawali S et al. | 2010 | Biological psychiatry |
| 20159345 | Molecular genetics of attention deficit hyperactivity disorder. | Faraone SV et al. | 2010 | The Psychiatric clinics of North America |
| 20175892 | Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency. | Tabagh R et al. | 2010 | BMC medical genetics |
| 20303273 | The association between personality, pain threshold and a single nucleotide polymorphism (rs3813034) in the 3'-untranslated region of the serotonin transporter gene (SLC6A4). | Aoki J et al. | 2010 | Journal of clinical neuroscience |
| 20442744 | Linkage and candidate gene studies of autism spectrum disorders in European populations. | Holt R et al. | 2010 | European journal of human genetics |
| 20502016 | Polymorphism C in the serotonin transporter gene in depression-free elderly patients with vascular dementia. | Seripa D et al. | 2010 | Dementia and geriatric cognitive disorders |
| 21333900 | The role of genetics in IBS. | Saito YA et al. | 2011 | Gastroenterology clinics of North America |
| 21364196 | A polymorphism in the serotonin transporter gene moderates cardiovascular reactivity to psychosocial stress. | Way BM et al. | 2011 | Psychosomatic medicine |
| 21439906 | Human serotonin transporter gene (SLC6A4) variants: their contributions to understanding pharmacogenomic and other functional G×G and G×E differences in health and disease. | Murphy DL et al. | 2011 | Current opinion in pharmacology |
| 21545724 | Serotonin transporter gene polymorphisms and brain function during emotional distraction from cognitive processing in posttraumatic stress disorder. | Morey RA et al. | 2011 | BMC psychiatry |
| 21655053 | The genetic basis of panic disorder. | Na HR et al. | 2011 | Journal of Korean medical science |
| 21906503 | Different phenotypic and genotypic presentations in alcohol dependence: age at onset matters. | Chen YC et al. | 2011 | Journal of studies on alcohol and drugs |
| 22384070 | AVPR1A and SLC6A4 polymorphisms in choral singers and non-musicians: a gene association study. | Morley AP et al. | 2012 | PloS one |
| 22431634 | Serotonin transporter polyadenylation polymorphism modulates the retention of fear extinction memory. | Hartley CA et al. | 2012 | Proceedings of the National Academy of Sciences of the United States of America |
| 23558235 | Independent effects of 5' and 3' functional variants in the serotonin transporter gene on suicidal behavior in the context of childhood trauma. | Enoch MA et al. | 2013 | Journal of psychiatric research |
| 23766564 | Pharmacogenetics of chronic pain and its treatment. | Světlík S et al. | 2013 | Mediators of inflammation |
| 25827644 | Role of the serotonin transporter gene locus in the response to SSRI treatment of major depressive disorder in late life. | Seripa D et al. | 2015 | Journal of psychopharmacology (Oxford, England) |
| 26556226 | A pharmacogenomic study revealed an association between SLC6A4 and risperidone-induced weight gain in Chinese Han population. | Wang F et al. | 2015 | Pharmacogenomics |
| 26674707 | Polymorphism of rs3813034 in Serotonin Transporter Gene SLC6A4 Is Associated With the Selective Serotonin and Serotonin-Norepinephrine Reuptake Inhibitor Response in Depressive Disorder: Sequencing Analysis of SLC6A4. | Nonen S et al. | 2016 | Journal of clinical psychopharmacology |
| 27294413 | Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016. | Srivastava AK et al. | 2016 | Human genomics |
| 30607769 | Pharmacogenetic Correlates of Antipsychotic-Induced Weight Gain in the Chinese Population. | Luo C et al. | 2019 | Neuroscience bulletin |
| 30642702 | Anxiety and genetic polymorphisms in catechol-O-methyltransferase (COMT) and serotonin transportation gene (5HTT) are associated with benign migratory glossitis. | Scariot R et al. | 2019 | Oral surgery, oral medicine, oral pathology and oral radiology |
| 30973927 | Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome. | Cassão VD et al. | 2019 | PloS one |
| 31846848 | Serotonin transporter gene (SLC6A4) variability in patients with recurrent aphthous stomatitis. | Slezakova S et al. | 2020 | Archives of oral biology |
| 32723321 | The association between serotonin-related gene polymorphisms and susceptibility and early sertraline response in patients with panic disorder. | Zou Z et al. | 2020 | BMC psychiatry |
| 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 |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
Top▲
Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
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.