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.
rs6296
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr6:77462543 (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>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.283003 (74908/264690, TOPMED)G=0.311761 (78305/251170, GnomAD_exome)G=0.267840 (37467/139886, GnomAD) (+ 24 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
HTR1B : Synonymous VariantLOC105377864 : Intron Variant
- Publications
- 55 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 | 50260 | C=0.73532 | G=0.26468 |
| European | Sub | 38258 | C=0.73671 | G=0.26329 |
| African | Sub | 3572 | C=0.7732 | G=0.2268 |
| African Others | Sub | 122 | C=0.770 | G=0.230 |
| African American | Sub | 3450 | C=0.7733 | G=0.2267 |
| Asian | Sub | 168 | C=0.524 | G=0.476 |
| East Asian | Sub | 112 | C=0.518 | G=0.482 |
| Other Asian | Sub | 56 | C=0.54 | G=0.46 |
| Latin American 1 | Sub | 484 | C=0.698 | G=0.302 |
| Latin American 2 | Sub | 628 | C=0.621 | G=0.379 |
| South Asian | Sub | 98 | C=0.50 | G=0.50 |
| Other | Sub | 7052 | C=0.7296 | G=0.2704 |
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=0.716997 | G=0.283003 |
| gnomAD - Exomes | Global | Study-wide | 251170 | C=0.688239 | G=0.311761 |
| gnomAD - Exomes | European | Sub | 135120 | C=0.738144 | G=0.261856 |
| gnomAD - Exomes | Asian | Sub | 49004 | C=0.59575 | G=0.40425 |
| gnomAD - Exomes | American | Sub | 34592 | C=0.56854 | G=0.43146 |
| gnomAD - Exomes | African | Sub | 16242 | C=0.76308 | G=0.23692 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10078 | C=0.75124 | G=0.24876 |
| gnomAD - Exomes | Other | Sub | 6134 | C=0.7012 | G=0.2988 |
| gnomAD - Genomes | Global | Study-wide | 139886 | C=0.732160 | G=0.267840 |
| gnomAD - Genomes | European | Sub | 75834 | C=0.74163 | G=0.25837 |
| gnomAD - Genomes | African | Sub | 41858 | C=0.76819 | G=0.23181 |
| gnomAD - Genomes | American | Sub | 13604 | C=0.62055 | G=0.37945 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.7480 | G=0.2520 |
| gnomAD - Genomes | East Asian | Sub | 3126 | C=0.5006 | G=0.4994 |
| gnomAD - Genomes | Other | Sub | 2142 | C=0.7148 | G=0.2852 |
| ExAC | Global | Study-wide | 121256 | C=0.693582 | G=0.306418 |
| ExAC | Europe | Sub | 73260 | C=0.73569 | G=0.26431 |
| ExAC | Asian | Sub | 25144 | C=0.60352 | G=0.39648 |
| ExAC | American | Sub | 11568 | C=0.56017 | G=0.43983 |
| ExAC | African | Sub | 10376 | C=0.76253 | G=0.23747 |
| ExAC | Other | Sub | 908 | C=0.702 | G=0.298 |
| The PAGE Study | Global | Study-wide | 78688 | C=0.68759 | G=0.31241 |
| The PAGE Study | AfricanAmerican | Sub | 32508 | C=0.76618 | G=0.23382 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.59038 | G=0.40962 |
| The PAGE Study | Asian | Sub | 8314 | C=0.5387 | G=0.4613 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.6580 | G=0.3420 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.7128 | G=0.2872 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.7534 | G=0.2466 |
| The PAGE Study | Dominican | Sub | 3826 | C=0.7141 | G=0.2859 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.5792 | G=0.4208 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.5883 | G=0.4117 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.6476 | G=0.3524 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.672 | G=0.328 |
| Allele Frequency Aggregator | Total | Global | 50260 | C=0.73532 | G=0.26468 |
| Allele Frequency Aggregator | European | Sub | 38258 | C=0.73671 | G=0.26329 |
| Allele Frequency Aggregator | Other | Sub | 7052 | C=0.7296 | G=0.2704 |
| Allele Frequency Aggregator | African | Sub | 3572 | C=0.7732 | G=0.2268 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 628 | C=0.621 | G=0.379 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 484 | C=0.698 | G=0.302 |
| Allele Frequency Aggregator | Asian | Sub | 168 | C=0.524 | G=0.476 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=0.50 | G=0.50 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.55262 | G=0.44738 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.55221 | G=0.44779 |
| GO Exome Sequencing Project | Global | Study-wide | 13006 | C=0.75058 | G=0.24942 |
| GO Exome Sequencing Project | European American | Sub | 8600 | C=0.7376 | G=0.2624 |
| GO Exome Sequencing Project | African American | Sub | 4406 | C=0.7760 | G=0.2240 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.6638 | G=0.3362 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.7592 | G=0.2408 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.7283 | G=0.2717 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.6864 | G=0.3136 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.4803 | G=0.5197 |
| 1000Genomes_30x | American | Sub | 980 | C=0.598 | G=0.402 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.6619 | G=0.3381 |
| 1000Genomes | African | Sub | 1322 | C=0.7564 | G=0.2436 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.4911 | G=0.5089 |
| 1000Genomes | Europe | Sub | 1006 | C=0.7366 | G=0.2634 |
| 1000Genomes | South Asian | Sub | 978 | C=0.681 | G=0.319 |
| 1000Genomes | American | Sub | 694 | C=0.595 | G=0.405 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.7147 | G=0.2853 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.7468 | G=0.2532 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.7352 | G=0.2648 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.5007 | G=0.4993 |
| HapMap | Global | Study-wide | 1880 | C=0.6963 | G=0.3037 |
| HapMap | American | Sub | 762 | C=0.643 | G=0.357 |
| HapMap | African | Sub | 692 | C=0.809 | G=0.191 |
| HapMap | Asian | Sub | 250 | C=0.496 | G=0.504 |
| HapMap | Europe | Sub | 176 | C=0.767 | G=0.233 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.5273 | G=0.4727 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.727 | G=0.273 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 780 | C=0.476 | G=0.524 |
| CNV burdens in cranial meningiomas | CRM | Sub | 780 | C=0.476 | G=0.524 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.708 | G=0.292 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | C=0.764 | G=0.236 |
| SGDP_PRJ | Global | Study-wide | 332 | C=0.361 | G=0.639 |
| FINRISK | Finnish from FINRISK project | Study-wide | 304 | C=0.704 | G=0.296 |
| Qatari | Global | Study-wide | 216 | C=0.690 | G=0.310 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 84 | C=0.95 | G=0.05 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.75 | G=0.25 |
| Siberian | Global | Study-wide | 30 | C=0.37 | G=0.63 |
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 6 | NC_000006.12:g.77462543C>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.78172260C>G |
Gene: HTR1B, 5-hydroxytryptamine receptor 1B
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HTR1B transcript | NM_000863.3:c.861G>C | V [GTG] > V [GTC] | Coding Sequence Variant |
| 5-hydroxytryptamine receptor 1B | NP_000854.1:p.Val287= | V (Val) > V (Val) | Synonymous Variant |
Gene: LOC105377864, uncharacterized LOC105377864
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC105377864 transcript variant X3 |
XM_047419660.1:c.-3742-11… XM_047419660.1:c.-3742-11983C>G |
N/A | Intron Variant |
| LOC105377864 transcript variant X2 | XM_047419659.1:c.-11681= | N/A | 5 Prime UTR Variant |
| LOC105377864 transcript variant X1 | XM_047419658.1:c. | N/A | Genic Upstream Transcript Variant |
| LOC105377864 transcript variant X4 | XM_047419661.1:c. | N/A | Genic Upstream Transcript Variant |
| LOC105377864 transcript variant X5 | XM_047419662.1:c. | N/A | Genic Upstream Transcript 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.
Not Reported in ClinVar
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= | G |
|---|---|---|
| GRCh38.p14 chr 6 | NC_000006.12:g.77462543= | NC_000006.12:g.77462543C>G |
| GRCh37.p13 chr 6 | NC_000006.11:g.78172260= | NC_000006.11:g.78172260C>G |
| HTR1B transcript | NM_000863.3:c.861= | NM_000863.3:c.861G>C |
| HTR1B transcript | NM_000863.2:c.861= | NM_000863.2:c.861G>C |
| HTR1B transcript | NM_000863.1:c.861= | NM_000863.1:c.861G>C |
| LOC105377864 transcript variant X2 | XM_047419659.1:c.-11681= | XM_047419659.1:c.-11681C>G |
| 5-hydroxytryptamine receptor 1B | NP_000854.1:p.Val287= | NP_000854.1:p.Val287= |
| LOC105377864 transcript variant X3 | XM_047419660.1:c.-3742-11983= | XM_047419660.1:c.-3742-11983C>G |
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#.
124 SubSNP,
27 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WIAF-CSNP | ss7924 | Sep 19, 2000 (52) |
| 2 | SGRP | ss137622 | Jun 24, 2000 (78) |
| 3 | YUSUKE | ss4934109 | Aug 28, 2002 (108) |
| 4 | KIDDLAB | ss6312551 | Feb 20, 2003 (111) |
| 5 | SNP500CANCER | ss12675424 | Nov 17, 2003 (118) |
| 6 | SSAHASNP | ss22495958 | Apr 05, 2004 (121) |
| 7 | PERLEGEN | ss23981468 | Sep 20, 2004 (123) |
| 8 | ABI | ss44733846 | Mar 13, 2006 (126) |
| 9 | APPLERA_GI | ss48426589 | Mar 13, 2006 (126) |
| 10 | AFFY | ss66201901 | Nov 30, 2006 (127) |
| 11 | SI_EXO | ss69376213 | May 17, 2007 (127) |
| 12 | AFFY | ss76290238 | Dec 06, 2007 (129) |
| 13 | CGM_KYOTO | ss76867920 | Dec 06, 2007 (129) |
| 14 | KRIBB_YJKIM | ss81404178 | Dec 16, 2007 (130) |
| 15 | HUMANGENOME_JCVI | ss98511456 | Feb 05, 2009 (130) |
| 16 | BGI | ss104329071 | Dec 01, 2009 (131) |
| 17 | 1000GENOMES | ss110388859 | Jan 24, 2009 (130) |
| 18 | ENSEMBL | ss139709666 | Dec 01, 2009 (131) |
| 19 | GMI | ss157179528 | Dec 01, 2009 (131) |
| 20 | SEATTLESEQ | ss159713055 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss160769977 | Dec 01, 2009 (131) |
| 22 | AFFY | ss173142360 | Jul 04, 2010 (132) |
| 23 | BUSHMAN | ss202054518 | Jul 04, 2010 (132) |
| 24 | BCM-HGSC-SUB | ss207587364 | Jul 04, 2010 (132) |
| 25 | 1000GENOMES | ss211867678 | Jul 14, 2010 (132) |
| 26 | 1000GENOMES | ss222485607 | Jul 14, 2010 (132) |
| 27 | 1000GENOMES | ss233545723 | Jul 15, 2010 (132) |
| 28 | 1000GENOMES | ss240587878 | Jul 15, 2010 (132) |
| 29 | ILLUMINA | ss244304668 | Jul 04, 2010 (132) |
| 30 | BL | ss254478552 | May 09, 2011 (134) |
| 31 | GMI | ss278879661 | May 04, 2012 (137) |
| 32 | GMI | ss285444850 | Apr 25, 2013 (138) |
| 33 | PJP | ss293641943 | May 09, 2011 (134) |
| 34 | NHLBI-ESP | ss342217048 | May 09, 2011 (134) |
| 35 | ILLUMINA | ss480039274 | May 04, 2012 (137) |
| 36 | ILLUMINA | ss482239751 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss485286488 | May 04, 2012 (137) |
| 38 | 1000GENOMES | ss490929591 | May 04, 2012 (137) |
| 39 | GSK-GENETICS | ss491274946 | May 04, 2012 (137) |
| 40 | CLINSEQ_SNP | ss491892947 | May 04, 2012 (137) |
| 41 | TISHKOFF | ss559309393 | Apr 25, 2013 (138) |
| 42 | SSMP | ss653271427 | Apr 25, 2013 (138) |
| 43 | ILLUMINA | ss781131583 | Aug 21, 2014 (142) |
| 44 | EVA-GONL | ss983124006 | Aug 21, 2014 (142) |
| 45 | JMKIDD_LAB | ss1067481023 | Aug 21, 2014 (142) |
| 46 | JMKIDD_LAB | ss1073754194 | Aug 21, 2014 (142) |
| 47 | 1000GENOMES | ss1320851254 | Aug 21, 2014 (142) |
| 48 | EVA_GENOME_DK | ss1581750299 | Apr 01, 2015 (144) |
| 49 | EVA_FINRISK | ss1584047841 | Apr 01, 2015 (144) |
| 50 | EVA_DECODE | ss1592668579 | Apr 01, 2015 (144) |
| 51 | EVA_UK10K_ALSPAC | ss1615941085 | Apr 01, 2015 (144) |
| 52 | EVA_UK10K_TWINSUK | ss1658935118 | Apr 01, 2015 (144) |
| 53 | EVA_EXAC | ss1688403865 | Apr 01, 2015 (144) |
| 54 | EVA_MGP | ss1711136121 | Apr 01, 2015 (144) |
| 55 | EVA_SVP | ss1712874822 | Apr 01, 2015 (144) |
| 56 | WEILL_CORNELL_DGM | ss1926380709 | Feb 12, 2016 (147) |
| 57 | ILLUMINA | ss1958926440 | Feb 12, 2016 (147) |
| 58 | GENOMED | ss1970441828 | Jul 19, 2016 (147) |
| 59 | JJLAB | ss2023833746 | Sep 14, 2016 (149) |
| 60 | USC_VALOUEV | ss2152025862 | Dec 20, 2016 (150) |
| 61 | HUMAN_LONGEVITY | ss2285366896 | Dec 20, 2016 (150) |
| 62 | SYSTEMSBIOZJU | ss2626411571 | Nov 08, 2017 (151) |
| 63 | GRF | ss2707638480 | Nov 08, 2017 (151) |
| 64 | GNOMAD | ss2735917505 | Nov 08, 2017 (151) |
| 65 | GNOMAD | ss2747661481 | Nov 08, 2017 (151) |
| 66 | GNOMAD | ss2841017535 | Nov 08, 2017 (151) |
| 67 | AFFY | ss2985373397 | Nov 08, 2017 (151) |
| 68 | AFFY | ss2986004346 | Nov 08, 2017 (151) |
| 69 | SWEGEN | ss2999376702 | Nov 08, 2017 (151) |
| 70 | ILLUMINA | ss3022638822 | Nov 08, 2017 (151) |
| 71 | BIOINF_KMB_FNS_UNIBA | ss3025709896 | Nov 08, 2017 (151) |
| 72 | CSHL | ss3347063246 | Nov 08, 2017 (151) |
| 73 | ILLUMINA | ss3636798143 | Oct 12, 2018 (152) |
| 74 | OMUKHERJEE_ADBS | ss3646341264 | Oct 12, 2018 (152) |
| 75 | URBANLAB | ss3648393102 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3653156288 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3654139313 | Oct 12, 2018 (152) |
| 78 | EGCUT_WGS | ss3667248404 | Jul 13, 2019 (153) |
| 79 | EVA_DECODE | ss3717571783 | Jul 13, 2019 (153) |
| 80 | ILLUMINA | ss3726359088 | Jul 13, 2019 (153) |
| 81 | ACPOP | ss3733669384 | Jul 13, 2019 (153) |
| 82 | EVA | ss3765236448 | Jul 13, 2019 (153) |
| 83 | PAGE_CC | ss3771303524 | Jul 13, 2019 (153) |
| 84 | KHV_HUMAN_GENOMES | ss3808386472 | Jul 13, 2019 (153) |
| 85 | EVA | ss3824205771 | Apr 26, 2020 (154) |
| 86 | EVA | ss3825702959 | Apr 26, 2020 (154) |
| 87 | EVA | ss3830018259 | Apr 26, 2020 (154) |
| 88 | EVA | ss3838490155 | Apr 26, 2020 (154) |
| 89 | EVA | ss3843937494 | Apr 26, 2020 (154) |
| 90 | SGDP_PRJ | ss3864960828 | Apr 26, 2020 (154) |
| 91 | KRGDB | ss3911837819 | Apr 26, 2020 (154) |
| 92 | KOGIC | ss3959395488 | Apr 26, 2020 (154) |
| 93 | FSA-LAB | ss3984342819 | Apr 26, 2021 (155) |
| 94 | FSA-LAB | ss3984342820 | Apr 26, 2021 (155) |
| 95 | EVA | ss3984571602 | Apr 26, 2021 (155) |
| 96 | EVA | ss3985231839 | Apr 26, 2021 (155) |
| 97 | EVA | ss3986036558 | Apr 26, 2021 (155) |
| 98 | EVA | ss3986351695 | Apr 26, 2021 (155) |
| 99 | TOPMED | ss4709266333 | Apr 26, 2021 (155) |
| 100 | TOMMO_GENOMICS | ss5178318509 | Apr 26, 2021 (155) |
| 101 | EVA | ss5237026164 | Apr 26, 2021 (155) |
| 102 | EVA | ss5237647252 | Oct 13, 2022 (156) |
| 103 | 1000G_HIGH_COVERAGE | ss5269091753 | Oct 13, 2022 (156) |
| 104 | TRAN_CS_UWATERLOO | ss5314417139 | Oct 13, 2022 (156) |
| 105 | EVA | ss5315167259 | Oct 13, 2022 (156) |
| 106 | EVA | ss5366751322 | Oct 13, 2022 (156) |
| 107 | HUGCELL_USP | ss5466666217 | Oct 13, 2022 (156) |
| 108 | 1000G_HIGH_COVERAGE | ss5555357375 | Oct 13, 2022 (156) |
| 109 | EVA | ss5623937615 | Oct 13, 2022 (156) |
| 110 | EVA | ss5624158574 | Oct 13, 2022 (156) |
| 111 | SANFORD_IMAGENETICS | ss5624633688 | Oct 13, 2022 (156) |
| 112 | SANFORD_IMAGENETICS | ss5640770559 | Oct 13, 2022 (156) |
| 113 | TOMMO_GENOMICS | ss5716737936 | Oct 13, 2022 (156) |
| 114 | YY_MCH | ss5807642580 | Oct 13, 2022 (156) |
| 115 | EVA | ss5842503575 | Oct 13, 2022 (156) |
| 116 | EVA | ss5847297922 | Oct 13, 2022 (156) |
| 117 | EVA | ss5848103018 | Oct 13, 2022 (156) |
| 118 | EVA | ss5848662819 | Oct 13, 2022 (156) |
| 119 | EVA | ss5855430927 | Oct 13, 2022 (156) |
| 120 | EVA | ss5884523368 | Oct 13, 2022 (156) |
| 121 | EVA | ss5969268179 | Oct 13, 2022 (156) |
| 122 | EVA | ss5979792174 | Oct 13, 2022 (156) |
| 123 | EVA | ss5980377654 | Oct 13, 2022 (156) |
| 124 | EVA | ss5981237138 | Oct 13, 2022 (156) |
| 125 | 1000Genomes | NC_000006.11 - 78172260 | Oct 12, 2018 (152) |
| 126 | 1000Genomes_30x | NC_000006.12 - 77462543 | Oct 13, 2022 (156) |
| 127 | The Avon Longitudinal Study of Parents and Children | NC_000006.11 - 78172260 | Oct 12, 2018 (152) |
| 128 | Genetic variation in the Estonian population | NC_000006.11 - 78172260 | Oct 12, 2018 (152) |
| 129 | ExAC | NC_000006.11 - 78172260 | Oct 12, 2018 (152) |
| 130 | FINRISK | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 131 | The Danish reference pan genome | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 132 | gnomAD - Genomes | NC_000006.12 - 77462543 | Apr 26, 2021 (155) |
| 133 | gnomAD - Exomes | NC_000006.11 - 78172260 | Jul 13, 2019 (153) |
| 134 | GO Exome Sequencing Project | NC_000006.11 - 78172260 | Oct 12, 2018 (152) |
| 135 | Genome of the Netherlands Release 5 | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 136 | HapMap | NC_000006.12 - 77462543 | Apr 26, 2020 (154) |
| 137 | KOREAN population from KRGDB | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 138 | Korean Genome Project | NC_000006.12 - 77462543 | Apr 26, 2020 (154) |
| 139 | Medical Genome Project healthy controls from Spanish population | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 140 | Northern Sweden | NC_000006.11 - 78172260 | Jul 13, 2019 (153) |
| 141 | The PAGE Study | NC_000006.12 - 77462543 | Jul 13, 2019 (153) |
| 142 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000006.11 - 78172260 | Apr 26, 2021 (155) |
| 143 | CNV burdens in cranial meningiomas | NC_000006.11 - 78172260 | Apr 26, 2021 (155) |
| 144 | Qatari | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 145 | SGDP_PRJ | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 146 | Siberian | NC_000006.11 - 78172260 | Apr 26, 2020 (154) |
| 147 | 8.3KJPN | NC_000006.11 - 78172260 | Apr 26, 2021 (155) |
| 148 | 14KJPN | NC_000006.12 - 77462543 | Oct 13, 2022 (156) |
| 149 | TopMed | NC_000006.12 - 77462543 | Apr 26, 2021 (155) |
| 150 | UK 10K study - Twins | NC_000006.11 - 78172260 | Oct 12, 2018 (152) |
| 151 | ALFA | NC_000006.12 - 77462543 | Apr 26, 2021 (155) |
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) |
|---|---|
| rs3748086 | Oct 08, 2002 (108) |
| rs61223995 | Feb 26, 2009 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss66201901, ss76290238, ss110388859, ss160769977, ss173142360, ss202054518, ss207587364, ss211867678, ss244304668, ss254478552, ss278879661, ss285444850, ss293641943, ss485286488, ss491274946, ss491892947, ss1592668579, ss1712874822 | NC_000006.10:78228978:C:G | NC_000006.12:77462542:C:G | (self) |
| 32665848, 18197231, 12986652, 8442387, 44302, 7915238, 5064922, 663775, 8107942, 19015213, 251881, 6954249, 457766, 121011, 8422639, 16977808, 4542216, 36287816, 18197231, ss222485607, ss233545723, ss240587878, ss342217048, ss480039274, ss482239751, ss490929591, ss559309393, ss653271427, ss781131583, ss983124006, ss1067481023, ss1073754194, ss1320851254, ss1581750299, ss1584047841, ss1615941085, ss1658935118, ss1688403865, ss1711136121, ss1926380709, ss1958926440, ss1970441828, ss2023833746, ss2152025862, ss2626411571, ss2707638480, ss2735917505, ss2747661481, ss2841017535, ss2985373397, ss2986004346, ss2999376702, ss3022638822, ss3347063246, ss3636798143, ss3646341264, ss3653156288, ss3654139313, ss3667248404, ss3733669384, ss3765236448, ss3824205771, ss3825702959, ss3830018259, ss3838490155, ss3864960828, ss3911837819, ss3984342819, ss3984342820, ss3984571602, ss3985231839, ss3986036558, ss3986351695, ss5178318509, ss5315167259, ss5366751322, ss5623937615, ss5624158574, ss5624633688, ss5640770559, ss5842503575, ss5847297922, ss5848103018, ss5848662819, ss5969268179, ss5979792174, ss5980377654, ss5981237138 | NC_000006.11:78172259:C:G | NC_000006.12:77462542:C:G | (self) |
| 42883310, 230536315, 3170159, 15773489, 524993, 50575040, 546643891, 10318336520, ss2285366896, ss3025709896, ss3648393102, ss3717571783, ss3726359088, ss3771303524, ss3808386472, ss3843937494, ss3959395488, ss4709266333, ss5237026164, ss5237647252, ss5269091753, ss5314417139, ss5466666217, ss5555357375, ss5716737936, ss5807642580, ss5855430927, ss5884523368 | NC_000006.12:77462542:C:G | NC_000006.12:77462542:C:G | (self) |
| ss22495958 | NT_007299.12:15992430:C:G | NC_000006.12:77462542:C:G | (self) |
| ss7924, ss137622, ss4934109, ss6312551, ss12675424, ss23981468, ss44733846, ss48426589, ss69376213, ss76867920, ss81404178, ss98511456, ss104329071, ss139709666, ss157179528, ss159713055 | NT_007299.13:16292093:C:G | NC_000006.12:77462542:C:G | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
55
citations for rs6296
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15206000 | Transmission disequilibrium studies in children and adolescents with obsessive-compulsive disorders pertaining to polymorphisms of genes of the serotonergic pathway. | Walitza S et al. | 2004 | Journal of neural transmission (Vienna, Austria |
| 16380908 | Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder. | Hawi Z et al. | 2005 | American journal of human genetics |
| 17948897 | Association of 5-HT1B receptor polymorphisms with the loudness dependence of auditory evoked potentials in a community-based sample of healthy volunteers. | Juckel G et al. | 2008 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 18698231 | Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. | Johnson AD et al. | 2008 | Pharmacogenetics and genomics |
| 19350534 | Functional polymorphisms in the serotonin 1B receptor gene (HTR1B) predict self-reported anger and hostility among young men. | Conner TS et al. | 2010 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 19379518 | Development of a fingerprinting panel using medically relevant polymorphisms. | Cross DS et al. | 2009 | BMC medical genomics |
| 19721846 | Candidate genes involved in neural plasticity and the risk for attention-deficit hyperactivity disorder: a meta-analysis of 8 common variants. | Forero DA et al. | 2009 | Journal of psychiatry & neuroscience |
| 20201854 | Search for genetic markers and functional variants involved in the development of opiate and cocaine addiction and treatment. | Yuferov V et al. | 2010 | Annals of the New York Academy of Sciences |
| 20388441 | [Association study of HTR1A and HTR1B with adolescent idiopathic scoliosis]. | Wang H et al. | 2010 | Zhonghua wai ke za zhi [Chinese journal of surgery] |
| 20565774 | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. | Cross DS et al. | 2010 | BMC genetics |
| 20638825 | The HTR1A and HTR1B receptor genes influence stress-related information processing. | Mekli K et al. | 2011 | European neuropsychopharmacology |
| 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 |
| 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 |
| 21711518 | Risk and protective genetic variants in suicidal behaviour: association with SLC1A2, SLC1A3, 5-HTR1B &NTRK2 polymorphisms. | Murphy TM et al. | 2011 | Behavioral and brain functions |
| 21937687 | Influence and interaction of genetic polymorphisms in the serotonin system and life stress on antidepressant drug response. | Xu Z et al. | 2012 | Journal of psychopharmacology (Oxford, England) |
| 22005095 | A haplotype analysis is consistent with the role of functional HTR1B variants in alcohol dependence. | Contini V et al. | 2012 | Drug and alcohol dependence |
| 22024213 | A novel gene-environment interaction involved in endometriosis. | McCarty CA et al. | 2012 | International journal of gynaecology and obstetrics |
| 22106445 | HTR1B, ADIPOR1, PPARGC1A, and CYP19A1 and obesity in a cohort of Caucasians and African Americans: an evaluation of gene-environment interactions and candidate genes. | Edwards TL et al. | 2012 | American journal of epidemiology |
| 22735397 | Serotonin system gene polymorphisms are associated with impulsivity in a context dependent manner. | Stoltenberg SF et al. | 2012 | Progress in neuro-psychopharmacology & biological psychiatry |
| 22841130 | Shared and unique genetic contributions to attention deficit/hyperactivity disorder and substance use disorders: a pilot study of six candidate genes. | Carpentier PJ et al. | 2013 | European neuropsychopharmacology |
| 22933845 | Polymorphisms of the serotonin transporter and receptor genes: susceptibility to substance abuse. | Herman AI et al. | 2012 | Substance abuse and rehabilitation |
| 22945537 | Serotonin receptor 1B genotype and hostility, anger and aggressive behavior through the lifespan: the Young Finns study. | Hakulinen C et al. | 2013 | Journal of behavioral medicine |
| 22957248 | Genetics of temporal lobe epilepsy: a review. | Salzmann A et al. | 2012 | Epilepsy research and treatment |
| 23375453 | Genetic association of 5-HT1A and 5-HT1B gene polymorphisms with migraine in a Turkish population. | Ates O et al. | 2013 | Journal of the neurological sciences |
| 23808549 | Candidate gene associations with withdrawn behavior. | Rubin DH et al. | 2013 | Journal of child psychology and psychiatry, and allied disciplines |
| 24596569 | Gene-environment interactions and intermediate phenotypes: early trauma and depression. | Hornung OP et al. | 2014 | Frontiers in endocrinology |
| 24881125 | From pharmacogenetics to pharmacogenomics: the way toward the personalization of antidepressant treatment. | Fabbri C et al. | 2014 | Canadian journal of psychiatry. Revue canadienne de psychiatrie |
| 25652393 | Interaction between 5-HTTLPR and 5-HT1B genotype status enhances cerebral 5-HT1A receptor binding. | Baldinger P et al. | 2015 | NeuroImage |
| 25658328 | Polymorphism in the serotonin receptor 2a (HTR2A) gene as possible predisposal factor for aggressive traits. | Banlaki Z et al. | 2015 | PloS one |
| 26123080 | Association between the polymorphism of C861G (rs6296) in the serotonin 1B receptor gene and Tourette syndrome in Han Chinese people. | Yi M et al. | 2017 | Asia-Pacific psychiatry |
| 26227246 | Susceptibility loci for heroin and cocaine addiction in the serotonergic and adrenergic pathways in populations of different ancestry. | Levran O et al. | 2015 | Pharmacogenomics |
| 26428549 | Variation in serotonin neurotransmission genes affects neural activation during response inhibition in adolescents and young adults with ADHD and healthy controls. | van Rooij D et al. | 2015 | The world journal of biological psychiatry |
| 26505676 | Association between genetic variants of serotonergic and glutamatergic pathways and the concentration of neurometabolites of the anterior cingulate cortex in paediatric patients with obsessive-compulsive disorder. | Ortiz AE et al. | 2016 | The world journal of biological psychiatry |
| 27230021 | Testing for the mediating role of endophenotypes using molecular genetic data in a twin study of ADHD traits. | Pinto R et al. | 2016 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 27445670 | 5-HT2A Gene Variants Moderate the Association between PTSD and Reduced Default Mode Network Connectivity. | Miller MW et al. | 2016 | Frontiers in neuroscience |
| 27529241 | The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key? | Daud AN et al. | 2016 | International journal of molecular sciences |
| 27721799 | Genetic Association Studies of Suicidal Behavior: A Review of the Past 10 Years, Progress, Limitations, and Future Directions. | Mirkovic B et al. | 2016 | Frontiers in psychiatry |
| 28007644 | Association between HTR1B alleles and suicidal ideation in individuals with major depressive disorder. | Kao WT et al. | 2017 | Neuroscience letters |
| 28282362 | Gene-to-gene interactions regulate endogenous pain modulation in fibromyalgia patients and healthy controls-antagonistic effects between opioid and serotonin-related genes. | Tour J et al. | 2017 | Pain |
| 28512748 | Genetic influences on ADHD symptom dimensions: Examination of a priori candidates, gene-based tests, genome-wide variation, and SNP heritability. | Bidwell LC et al. | 2017 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 28639488 | Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies: an exploratory pharmacogenetics study. | Daud ANA et al. | 2017 | Pharmacogenomics |
| 28923721 | Evidence of sexual dimorphism of HTR1B gene on major adult ADHD comorbidities. | Müller D et al. | 2017 | Journal of psychiatric research |
| 29275155 | HTR1A/1B DNA methylation may predict escitalopram treatment response in depressed Chinese Han patients. | Wang P et al. | 2018 | Journal of affective disorders |
| 29709878 | Genetic polymorphisms of the 5HT receptors are not related with depression in temporal lobe epilepsy caused by hippocampal sclerosis. | Vincentiis S et al. | 2018 | Epilepsy & behavior |
| 30074224 | Association of Serotonin Receptors with Attention Deficit Hyperactivity Disorder: A Systematic Review and Meta-analysis. | Hou YW et al. | 2018 | Current medical science |
| 30700110 | Genetic Variants and the Cortisol Response in Children: An Exploratory Study. | Ersig AL et al. | 2019 | Biological research for nursing |
| 31510870 | There is no association between rs6296 and alcoholism: a meta-analysis. | Zhang X et al. | 2021 | Journal of ethnicity in substance abuse |
| 32576619 | Effects of TPH2 gene variation and childhood trauma on the clinical and circuit-level phenotype of functional movement disorders. | Spagnolo PA et al. | 2020 | Journal of neurology, neurosurgery, and psychiatry |
| 33096746 | Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. | Thakran S et al. | 2020 | International journal of molecular sciences |
| 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 |
| 34575611 | Relationship of Postoperative Pain and PONV after Minimally Invasive Surgery with the Serotonin Concentrations and Receptors' Gene Polymorphisms. | Ignaszak-Kaus N et al. | 2021 | Journal of personalized medicine |
| 35140610 | Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies. | Tsermpini EE et al. | 2021 | Frontiers in pharmacology |
| 35438303 | Methylation and expression quantitative trait locus rs6296 in the HTR1B gene is associated with susceptibility to opioid use disorder. | Li Y et al. | 2022 | Psychopharmacology |
| 35776190 | Correction to: Methylation and expression quantitative trait locus rs6296 in the HTR1B gene is associated with susceptibility to opioid use disorder. | Li Y et al. | 2022 | Psychopharmacology |
| 35893072 | Are Pain Polymorphisms Associated with the Risk and Phenotype of Post-COVID Pain in Previously Hospitalized COVID-19 Survivors? | Fernández-de-Las-Peñas C et al. | 2022 | Genes |
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.