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.
rs7997012
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr13:46837850 (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
-
A=0.281057 (74393/264690, TOPMED)A=0.308572 (43247/140152, GnomAD)A=0.20771 (16347/78702, PAGE_STUDY) (+ 20 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- HTR2A : Intron Variant
- Publications
- 52 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 | 54348 | A=0.39554 | G=0.60446 |
| European | Sub | 47074 | A=0.42650 | G=0.57350 |
| African | Sub | 3606 | A=0.0718 | G=0.9282 |
| African Others | Sub | 124 | A=0.000 | G=1.000 |
| African American | Sub | 3482 | A=0.0744 | G=0.9256 |
| Asian | Sub | 208 | A=0.245 | G=0.755 |
| East Asian | Sub | 180 | A=0.228 | G=0.772 |
| Other Asian | Sub | 28 | A=0.36 | G=0.64 |
| Latin American 1 | Sub | 168 | A=0.244 | G=0.756 |
| Latin American 2 | Sub | 700 | A=0.337 | G=0.663 |
| South Asian | Sub | 122 | A=0.385 | G=0.615 |
| Other | Sub | 2470 | A=0.3182 | G=0.6818 |
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=0.281057 | G=0.718943 |
| gnomAD - Genomes | Global | Study-wide | 140152 | A=0.308572 | G=0.691428 |
| gnomAD - Genomes | European | Sub | 75870 | A=0.43961 | G=0.56039 |
| gnomAD - Genomes | African | Sub | 42034 | A=0.07570 | G=0.92430 |
| gnomAD - Genomes | American | Sub | 13652 | A=0.31431 | G=0.68569 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | A=0.2804 | G=0.7196 |
| gnomAD - Genomes | East Asian | Sub | 3124 | A=0.2705 | G=0.7295 |
| gnomAD - Genomes | Other | Sub | 2148 | A=0.2998 | G=0.7002 |
| The PAGE Study | Global | Study-wide | 78702 | A=0.20771 | G=0.79229 |
| The PAGE Study | AfricanAmerican | Sub | 32516 | A=0.08636 | G=0.91364 |
| The PAGE Study | Mexican | Sub | 10810 | A=0.31101 | G=0.68899 |
| The PAGE Study | Asian | Sub | 8318 | A=0.1939 | G=0.8061 |
| The PAGE Study | PuertoRican | Sub | 7918 | A=0.2744 | G=0.7256 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | A=0.5194 | G=0.4806 |
| The PAGE Study | Cuban | Sub | 4230 | A=0.2759 | G=0.7241 |
| The PAGE Study | Dominican | Sub | 3828 | A=0.1917 | G=0.8083 |
| The PAGE Study | CentralAmerican | Sub | 2450 | A=0.2763 | G=0.7237 |
| The PAGE Study | SouthAmerican | Sub | 1982 | A=0.3496 | G=0.6504 |
| The PAGE Study | NativeAmerican | Sub | 1260 | A=0.3492 | G=0.6508 |
| The PAGE Study | SouthAsian | Sub | 856 | A=0.380 | G=0.620 |
| Allele Frequency Aggregator | Total | Global | 54254 | A=0.39577 | G=0.60423 |
| Allele Frequency Aggregator | European | Sub | 46998 | A=0.42676 | G=0.57324 |
| Allele Frequency Aggregator | African | Sub | 3606 | A=0.0718 | G=0.9282 |
| Allele Frequency Aggregator | Other | Sub | 2452 | A=0.3185 | G=0.6815 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 700 | A=0.337 | G=0.663 |
| Allele Frequency Aggregator | Asian | Sub | 208 | A=0.245 | G=0.755 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 168 | A=0.244 | G=0.756 |
| Allele Frequency Aggregator | South Asian | Sub | 122 | A=0.385 | G=0.615 |
| 14KJPN | JAPANESE | Study-wide | 28258 | A=0.17581 | G=0.82419 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | A=0.17279 | G=0.82721 |
| 1000Genomes_30x | Global | Study-wide | 6404 | A=0.2683 | G=0.7317 |
| 1000Genomes_30x | African | Sub | 1786 | A=0.0134 | G=0.9866 |
| 1000Genomes_30x | Europe | Sub | 1266 | A=0.4289 | G=0.5711 |
| 1000Genomes_30x | South Asian | Sub | 1202 | A=0.4126 | G=0.5874 |
| 1000Genomes_30x | East Asian | Sub | 1170 | A=0.2684 | G=0.7316 |
| 1000Genomes_30x | American | Sub | 980 | A=0.348 | G=0.652 |
| 1000Genomes | Global | Study-wide | 5008 | A=0.2728 | G=0.7272 |
| 1000Genomes | African | Sub | 1322 | A=0.0144 | G=0.9856 |
| 1000Genomes | East Asian | Sub | 1008 | A=0.2579 | G=0.7421 |
| 1000Genomes | Europe | Sub | 1006 | A=0.4294 | G=0.5706 |
| 1000Genomes | South Asian | Sub | 978 | A=0.420 | G=0.580 |
| 1000Genomes | American | Sub | 694 | A=0.352 | G=0.648 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | A=0.5576 | G=0.4424 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | A=0.4102 | G=0.5898 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | A=0.4266 | G=0.5734 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | A=0.1922 | C=0.0000, G=0.8078, T=0.0000 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | A=0.1971 | G=0.8029 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | A=0.3908 | G=0.6092 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | A=0.406 | G=0.594 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | A=0.347 | G=0.653 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | A=0.361 | G=0.639 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | A=0.407 | G=0.593 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | A=0.36 | G=0.64 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | A=0.44 | G=0.56 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | A=0.436 | G=0.564 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 788 | A=0.230 | G=0.770 |
| CNV burdens in cranial meningiomas | CRM | Sub | 788 | A=0.230 | G=0.770 |
| Northern Sweden | ACPOP | Study-wide | 600 | A=0.515 | G=0.485 |
| SGDP_PRJ | Global | Study-wide | 484 | A=0.196 | G=0.804 |
| HapMap | Global | Study-wide | 324 | A=0.173 | G=0.827 |
| HapMap | African | Sub | 120 | A=0.000 | G=1.000 |
| HapMap | American | Sub | 116 | A=0.362 | G=0.638 |
| HapMap | Asian | Sub | 88 | A=0.16 | G=0.84 |
| Qatari | Global | Study-wide | 216 | A=0.218 | G=0.782 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | A=0.283 | G=0.717 |
| Siberian | Global | Study-wide | 48 | A=0.31 | G=0.69 |
| The Danish reference pan genome | Danish | Study-wide | 40 | A=0.40 | G=0.60 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 13 | NC_000013.11:g.46837850A>C |
| GRCh38.p14 chr 13 | NC_000013.11:g.46837850A>G |
| GRCh38.p14 chr 13 | NC_000013.11:g.46837850A>T |
| GRCh37.p13 chr 13 | NC_000013.10:g.47411985A>C |
| GRCh37.p13 chr 13 | NC_000013.10:g.47411985A>G |
| GRCh37.p13 chr 13 | NC_000013.10:g.47411985A>T |
| HTR2A RefSeqGene (LRG_1008) | NG_013011.1:g.64185T>G |
| HTR2A RefSeqGene (LRG_1008) | NG_013011.1:g.64185T>C |
| HTR2A RefSeqGene (LRG_1008) | NG_013011.1:g.64185T>A |
Gene: HTR2A, 5-hydroxytryptamine receptor 2A
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HTR2A transcript variant 1 | NM_000621.5:c.614-2211T>G | N/A | Intron Variant |
| HTR2A transcript variant 2 |
NM_001165947.5:c.125-2211… NM_001165947.5:c.125-2211T>G |
N/A | Intron Variant |
| HTR2A transcript variant 3 |
NM_001378924.1:c.614-2211… NM_001378924.1:c.614-2211T>G |
N/A | Intron 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: G (allele ID:
227777
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000013801.4 | Major depressive disorder, response to citalopram therapy in | Drug-Response |
| RCV000600276.2 | not specified | Benign |
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | A= | C | G | T |
|---|---|---|---|---|
| GRCh38.p14 chr 13 | NC_000013.11:g.46837850= | NC_000013.11:g.46837850A>C | NC_000013.11:g.46837850A>G | NC_000013.11:g.46837850A>T |
| GRCh37.p13 chr 13 | NC_000013.10:g.47411985= | NC_000013.10:g.47411985A>C | NC_000013.10:g.47411985A>G | NC_000013.10:g.47411985A>T |
| HTR2A RefSeqGene (LRG_1008) | NG_013011.1:g.64185= | NG_013011.1:g.64185T>G | NG_013011.1:g.64185T>C | NG_013011.1:g.64185T>A |
| HTR2A transcript variant 1 | NM_000621.4:c.614-2211= | NM_000621.4:c.614-2211T>G | NM_000621.4:c.614-2211T>C | NM_000621.4:c.614-2211T>A |
| HTR2A transcript variant 1 | NM_000621.5:c.614-2211= | NM_000621.5:c.614-2211T>G | NM_000621.5:c.614-2211T>C | NM_000621.5:c.614-2211T>A |
| HTR2A transcript variant 2 | NM_001165947.2:c.362-2211= | NM_001165947.2:c.362-2211T>G | NM_001165947.2:c.362-2211T>C | NM_001165947.2:c.362-2211T>A |
| HTR2A transcript variant 2 | NM_001165947.5:c.125-2211= | NM_001165947.5:c.125-2211T>G | NM_001165947.5:c.125-2211T>C | NM_001165947.5:c.125-2211T>A |
| HTR2A transcript variant 3 | NM_001378924.1:c.614-2211= | NM_001378924.1:c.614-2211T>G | NM_001378924.1:c.614-2211T>C | NM_001378924.1:c.614-2211T>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#.
105 SubSNP,
23 Frequency,
2 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | WI_SSAHASNP | ss12258585 | Jul 11, 2003 (116) |
| 2 | SC_SNP | ss13275923 | Dec 05, 2003 (119) |
| 3 | SC_SNP | ss16206267 | Feb 27, 2004 (120) |
| 4 | CSHL-HAPMAP | ss17494895 | Feb 27, 2004 (120) |
| 5 | SSAHASNP | ss21050696 | Apr 05, 2004 (121) |
| 6 | ABI | ss43448634 | Mar 13, 2006 (126) |
| 7 | PERLEGEN | ss69133950 | May 17, 2007 (127) |
| 8 | HGSV | ss82230596 | Dec 15, 2007 (130) |
| 9 | HGSV | ss84988324 | Dec 15, 2007 (130) |
| 10 | BCMHGSC_JDW | ss89649201 | Mar 24, 2008 (129) |
| 11 | HUMANGENOME_JCVI | ss97156206 | Feb 06, 2009 (130) |
| 12 | BGI | ss106333024 | Feb 06, 2009 (130) |
| 13 | 1000GENOMES | ss114664085 | Jan 25, 2009 (130) |
| 14 | ILLUMINA-UK | ss118686874 | Feb 14, 2009 (130) |
| 15 | ENSEMBL | ss132226817 | Dec 01, 2009 (131) |
| 16 | ENSEMBL | ss133577833 | Dec 01, 2009 (131) |
| 17 | GMI | ss154766097 | Dec 01, 2009 (131) |
| 18 | COMPLETE_GENOMICS | ss168059448 | Jul 04, 2010 (132) |
| 19 | COMPLETE_GENOMICS | ss169492561 | Jul 04, 2010 (132) |
| 20 | COMPLETE_GENOMICS | ss171131110 | Jul 04, 2010 (132) |
| 21 | BUSHMAN | ss199175686 | Jul 04, 2010 (132) |
| 22 | BCM-HGSC-SUB | ss208664354 | Jul 04, 2010 (132) |
| 23 | 1000GENOMES | ss210839155 | Jul 14, 2010 (132) |
| 24 | 1000GENOMES | ss226173466 | Jul 14, 2010 (132) |
| 25 | 1000GENOMES | ss236243365 | Jul 15, 2010 (132) |
| 26 | 1000GENOMES | ss242741837 | Jul 15, 2010 (132) |
| 27 | BL | ss254990795 | May 09, 2011 (134) |
| 28 | GMI | ss281705319 | May 04, 2012 (137) |
| 29 | GMI | ss286700017 | Apr 25, 2013 (138) |
| 30 | PJP | ss291436579 | May 09, 2011 (134) |
| 31 | ILLUMINA | ss483197873 | May 04, 2012 (137) |
| 32 | ILLUMINA | ss483696172 | May 04, 2012 (137) |
| 33 | ILLUMINA | ss535897894 | Sep 08, 2015 (146) |
| 34 | TISHKOFF | ss563654497 | Apr 25, 2013 (138) |
| 35 | SSMP | ss659257438 | Apr 25, 2013 (138) |
| 36 | ILLUMINA | ss780374315 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss782291585 | Sep 08, 2015 (146) |
| 38 | ILLUMINA | ss835862553 | Sep 08, 2015 (146) |
| 39 | EVA-GONL | ss990366307 | Aug 21, 2014 (142) |
| 40 | JMKIDD_LAB | ss1079067618 | Aug 21, 2014 (142) |
| 41 | 1000GENOMES | ss1348129901 | Aug 21, 2014 (142) |
| 42 | HAMMER_LAB | ss1397657541 | Sep 08, 2015 (146) |
| 43 | DDI | ss1427181267 | Apr 01, 2015 (144) |
| 44 | EVA_GENOME_DK | ss1576773397 | Apr 01, 2015 (144) |
| 45 | EVA_UK10K_ALSPAC | ss1630232310 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_TWINSUK | ss1673226343 | Apr 01, 2015 (144) |
| 47 | EVA_DECODE | ss1684889147 | Apr 01, 2015 (144) |
| 48 | HAMMER_LAB | ss1807600516 | Sep 08, 2015 (146) |
| 49 | WEILL_CORNELL_DGM | ss1933734798 | Feb 12, 2016 (147) |
| 50 | ILLUMINA | ss1959500099 | Feb 12, 2016 (147) |
| 51 | GENOMED | ss1967777401 | Jul 19, 2016 (147) |
| 52 | JJLAB | ss2027626672 | Sep 14, 2016 (149) |
| 53 | USC_VALOUEV | ss2155992567 | Dec 20, 2016 (150) |
| 54 | HUMAN_LONGEVITY | ss2196136739 | Dec 20, 2016 (150) |
| 55 | SYSTEMSBIOZJU | ss2628303623 | Nov 08, 2017 (151) |
| 56 | ILLUMINA | ss2633061719 | Nov 08, 2017 (151) |
| 57 | GRF | ss2700371815 | Nov 08, 2017 (151) |
| 58 | ILLUMINA | ss2710782589 | Nov 08, 2017 (151) |
| 59 | GNOMAD | ss2919380519 | Nov 08, 2017 (151) |
| 60 | AFFY | ss2985003419 | Nov 08, 2017 (151) |
| 61 | AFFY | ss2985638893 | Nov 08, 2017 (151) |
| 62 | SWEGEN | ss3010981565 | Nov 08, 2017 (151) |
| 63 | ILLUMINA | ss3021506766 | Nov 08, 2017 (151) |
| 64 | BIOINF_KMB_FNS_UNIBA | ss3027630554 | Nov 08, 2017 (151) |
| 65 | CSHL | ss3350444401 | Nov 08, 2017 (151) |
| 66 | ILLUMINA | ss3627061035 | Oct 12, 2018 (152) |
| 67 | ILLUMINA | ss3631065176 | Oct 12, 2018 (152) |
| 68 | ILLUMINA | ss3641837564 | Oct 12, 2018 (152) |
| 69 | URBANLAB | ss3650028279 | Oct 12, 2018 (152) |
| 70 | ILLUMINA | ss3651894320 | Oct 12, 2018 (152) |
| 71 | ILLUMINA | ss3653774250 | Oct 12, 2018 (152) |
| 72 | EGCUT_WGS | ss3678245188 | Jul 13, 2019 (153) |
| 73 | EVA_DECODE | ss3695243710 | Jul 13, 2019 (153) |
| 74 | ILLUMINA | ss3725392824 | Jul 13, 2019 (153) |
| 75 | ACPOP | ss3739726173 | Jul 13, 2019 (153) |
| 76 | EVA | ss3751435891 | Jul 13, 2019 (153) |
| 77 | PAGE_CC | ss3771745442 | Jul 13, 2019 (153) |
| 78 | PACBIO | ss3787451669 | Jul 13, 2019 (153) |
| 79 | PACBIO | ss3792518776 | Jul 13, 2019 (153) |
| 80 | PACBIO | ss3797402577 | Jul 13, 2019 (153) |
| 81 | KHV_HUMAN_GENOMES | ss3816765730 | Jul 13, 2019 (153) |
| 82 | EVA | ss3833534457 | Apr 27, 2020 (154) |
| 83 | EVA | ss3840348059 | Apr 27, 2020 (154) |
| 84 | EVA | ss3845833714 | Apr 27, 2020 (154) |
| 85 | SGDP_PRJ | ss3879927527 | Apr 27, 2020 (154) |
| 86 | KRGDB | ss3928776567 | Apr 27, 2020 (154) |
| 87 | KOGIC | ss3973518376 | Apr 27, 2020 (154) |
| 88 | EVA | ss3984680079 | Apr 26, 2021 (155) |
| 89 | TOPMED | ss4945454917 | Apr 26, 2021 (155) |
| 90 | TOMMO_GENOMICS | ss5209890411 | Apr 26, 2021 (155) |
| 91 | 1000G_HIGH_COVERAGE | ss5293652439 | Oct 16, 2022 (156) |
| 92 | EVA | ss5315682446 | Oct 16, 2022 (156) |
| 93 | HUGCELL_USP | ss5488024056 | Oct 16, 2022 (156) |
| 94 | 1000G_HIGH_COVERAGE | ss5592560392 | Oct 16, 2022 (156) |
| 95 | SANFORD_IMAGENETICS | ss5624324104 | Oct 16, 2022 (156) |
| 96 | SANFORD_IMAGENETICS | ss5654723457 | Oct 16, 2022 (156) |
| 97 | TOMMO_GENOMICS | ss5761735670 | Oct 16, 2022 (156) |
| 98 | YY_MCH | ss5814091779 | Oct 16, 2022 (156) |
| 99 | EVA | ss5839443000 | Oct 16, 2022 (156) |
| 100 | EVA | ss5847424160 | Oct 16, 2022 (156) |
| 101 | EVA | ss5847698187 | Oct 16, 2022 (156) |
| 102 | EVA | ss5850719107 | Oct 16, 2022 (156) |
| 103 | EVA | ss5925014848 | Oct 16, 2022 (156) |
| 104 | EVA | ss5946141643 | Oct 16, 2022 (156) |
| 105 | EVA | ss5979418068 | Oct 16, 2022 (156) |
| 106 | 1000Genomes | NC_000013.10 - 47411985 | Oct 12, 2018 (152) |
| 107 | 1000Genomes_30x | NC_000013.11 - 46837850 | Oct 16, 2022 (156) |
| 108 | The Avon Longitudinal Study of Parents and Children | NC_000013.10 - 47411985 | Oct 12, 2018 (152) |
| 109 | Genome-wide autozygosity in Daghestan | NC_000013.9 - 46309986 | Apr 27, 2020 (154) |
| 110 | Genetic variation in the Estonian population | NC_000013.10 - 47411985 | Oct 12, 2018 (152) |
| 111 | The Danish reference pan genome | NC_000013.10 - 47411985 | Apr 27, 2020 (154) |
| 112 | gnomAD - Genomes | NC_000013.11 - 46837850 | Apr 26, 2021 (155) |
| 113 | Genome of the Netherlands Release 5 | NC_000013.10 - 47411985 | Apr 27, 2020 (154) |
| 114 | HapMap | NC_000013.11 - 46837850 | Apr 27, 2020 (154) |
| 115 | KOREAN population from KRGDB | NC_000013.10 - 47411985 | Apr 27, 2020 (154) |
| 116 | Korean Genome Project | NC_000013.11 - 46837850 | Apr 27, 2020 (154) |
| 117 | Northern Sweden | NC_000013.10 - 47411985 | Jul 13, 2019 (153) |
| 118 | The PAGE Study | NC_000013.11 - 46837850 | Jul 13, 2019 (153) |
| 119 | CNV burdens in cranial meningiomas | NC_000013.10 - 47411985 | Apr 26, 2021 (155) |
| 120 | Qatari | NC_000013.10 - 47411985 | Apr 27, 2020 (154) |
| 121 | SGDP_PRJ | NC_000013.10 - 47411985 | Apr 27, 2020 (154) |
| 122 | Siberian | NC_000013.10 - 47411985 | Apr 27, 2020 (154) |
| 123 | 8.3KJPN | NC_000013.10 - 47411985 | Apr 26, 2021 (155) |
| 124 | 14KJPN | NC_000013.11 - 46837850 | Oct 16, 2022 (156) |
| 125 | TopMed | NC_000013.11 - 46837850 | Apr 26, 2021 (155) |
| 126 | UK 10K study - Twins | NC_000013.10 - 47411985 | Oct 12, 2018 (152) |
| 127 | A Vietnamese Genetic Variation Database | NC_000013.10 - 47411985 | Jul 13, 2019 (153) |
| 128 | ALFA | NC_000013.11 - 46837850 | Apr 26, 2021 (155) |
| 129 | ClinVar | RCV000013801.4 | Oct 16, 2022 (156) |
| 130 | ClinVar | RCV000600276.2 | Oct 16, 2022 (156) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs60567994 | May 26, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 35953961, ss3928776567 | NC_000013.10:47411984:A:C | NC_000013.11:46837849:A:C | (self) |
| 128162, ss82230596, ss84988324, ss89649201, ss114664085, ss118686874, ss168059448, ss169492561, ss171131110, ss199175686, ss208664354, ss210839155, ss254990795, ss281705319, ss286700017, ss291436579, ss483197873, ss1397657541, ss1684889147 | NC_000013.9:46309985:A:G | NC_000013.11:46837849:A:G | (self) |
| 60997681, 33886898, 23983436, 3289477, 15119444, 35953961, 13011038, 229584, 15776728, 31944507, 8508921, 67859718, 33886898, 7518856, ss226173466, ss236243365, ss242741837, ss483696172, ss535897894, ss563654497, ss659257438, ss780374315, ss782291585, ss835862553, ss990366307, ss1079067618, ss1348129901, ss1427181267, ss1576773397, ss1630232310, ss1673226343, ss1807600516, ss1933734798, ss1959500099, ss1967777401, ss2027626672, ss2155992567, ss2628303623, ss2633061719, ss2700371815, ss2710782589, ss2919380519, ss2985003419, ss2985638893, ss3010981565, ss3021506766, ss3350444401, ss3627061035, ss3631065176, ss3641837564, ss3651894320, ss3653774250, ss3678245188, ss3739726173, ss3751435891, ss3787451669, ss3792518776, ss3797402577, ss3833534457, ss3840348059, ss3879927527, ss3928776567, ss3984680079, ss5209890411, ss5315682446, ss5624324104, ss5654723457, ss5839443000, ss5847424160, ss5847698187, ss5946141643, ss5979418068 | NC_000013.10:47411984:A:G | NC_000013.11:46837849:A:G | (self) |
| RCV000013801.4, RCV000600276.2, 80086327, 430043446, 985996, 29896377, 966911, 95572774, 161000575, 13163909613, ss2196136739, ss3027630554, ss3650028279, ss3695243710, ss3725392824, ss3771745442, ss3816765730, ss3845833714, ss3973518376, ss4945454917, ss5293652439, ss5488024056, ss5592560392, ss5761735670, ss5814091779, ss5850719107, ss5925014848 | NC_000013.11:46837849:A:G | NC_000013.11:46837849:A:G | (self) |
| ss12258585, ss13275923 | NT_024524.12:15986476:A:G | NC_000013.11:46837849:A:G | (self) |
| ss16206267, ss17494895, ss21050696 | NT_024524.13:28391985:A:G | NC_000013.11:46837849:A:G | (self) |
| ss43448634, ss69133950, ss97156206, ss106333024, ss132226817, ss133577833, ss154766097 | NT_024524.14:28391984:A:G | NC_000013.11:46837849:A:G | (self) |
| 35953961, ss3928776567 | NC_000013.10:47411984:A:T | NC_000013.11:46837849:A:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
52
citations for rs7997012
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 16642436 | Variation in the gene encoding the serotonin 2A receptor is associated with outcome of antidepressant treatment. | McMahon FJ et al. | 2006 | American journal of human genetics |
| 17671280 | Association of GRIK4 with outcome of antidepressant treatment in the STAR*D cohort. | Paddock S et al. | 2007 | The American journal of psychiatry |
| 18803430 | Pharmacogenetics of major depression: insights from level 1 of the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) trial. | Lekman M et al. | 2008 | Molecular diagnosis & therapy |
| 19077664 | Resequencing of serotonin-related genes and association of tagging SNPs to citalopram response. | Peters EJ et al. | 2009 | Pharmacogenetics and genomics |
| 19095219 | Variation in catechol-O-methyltransferase is associated with duloxetine response in a clinical trial for major depressive disorder. | Perlis RH et al. | 2009 | Biological psychiatry |
| 19381154 | Differences and similarities in the serotonergic diathesis for suicide attempts and mood disorders: a 22-year longitudinal gene-environment study. | Brezo J et al. | 2010 | Molecular psychiatry |
| 19428704 | Genetic association analysis of serotonin 2A receptor gene (HTR2A) with bipolar disorder and major depressive disorder in the Japanese population. | Kishi T et al. | 2009 | Neuroscience research |
| 19590397 | 5-HTR1A, 5-HTR2A, 5-HTR6, TPH1 and TPH2 polymorphisms and major depression. | Illi A et al. | 2009 | Neuroreport |
| 19636338 | Pharmacogenetics and olanzapine treatment: CYP1A2*1F and serotonergic polymorphisms influence therapeutic outcome. | Laika B et al. | 2010 | The pharmacogenomics journal |
| 19758789 | HTR2A gene variation is involved in antidepressant treatment response. | Lucae S et al. | 2010 | European neuropsychopharmacology |
| 19924111 | Polymorphisms in GRIK4, HTR2A, and FKBP5 show interactive effects in predicting remission to antidepressant treatment. | Horstmann S et al. | 2010 | Neuropsychopharmacology |
| 19937159 | HTR2A is associated with SSRI response in major depressive disorder in a Japanese cohort. | Kishi T et al. | 2010 | Neuromolecular medicine |
| 20047709 | Genetic variation in HTR2A influences serotonin transporter binding potential as measured using PET and [11C]DASB. | Laje G et al. | 2010 | The international journal of neuropsychopharmacology |
| 20194481 | Association of mu-opioid receptor variants and response to citalopram treatment in major depressive disorder. | Garriock HA et al. | 2010 | The American journal of psychiatry |
| 20373668 | Psychiatric pharmacogenomic testing in clinical practice. | Mrazek DA et al. | 2010 | Dialogues in clinical neuroscience |
| 20453658 | 5HT1A and 5HT2A receptor genes in treatment response phenotypes in major depressive disorder. | Noro M et al. | 2010 | International clinical psychopharmacology |
| 21136126 | Temperament profiles, 5-HT2A genotype, and response to treatment with SSRIs in major depression. | Andre K et al. | 2010 | Journal of neural transmission (Vienna, Austria |
| 21172166 | Pharmacogenetics of antidepressant response. | Porcelli S et al. | 2011 | Journal of psychiatry & neuroscience |
| 21741447 | Interaction between two HTR2A polymorphisms and gender is associated with treatment response in MDD. | Viikki M et al. | 2011 | Neuroscience letters |
| 22006095 | Serotonin receptor 2A (HTR2A) gene polymorphism predicts treatment response to venlafaxine XR in generalized anxiety disorder. | Lohoff FW et al. | 2013 | The pharmacogenomics journal |
| 22738351 | Genome-wide approaches to antidepressant treatment: working towards understanding and predicting response. | Hodgson K et al. | 2012 | Genome medicine |
| 22907732 | Interaction between polymorphisms in serotonin transporter (SLC6A4) and serotonin receptor 2A (HTR2A) genes predict treatment response to venlafaxine XR in generalized anxiety disorder. | Lohoff FW et al. | 2013 | The pharmacogenomics journal |
| 22992668 | Pharmacogenomics knowledge for personalized medicine. | Whirl-Carrillo M et al. | 2012 | Clinical pharmacology and therapeutics |
| 23537781 | Variation in the HTR1A and HTR2A genes and social adjustment in depressed patients. | Antypa N et al. | 2013 | Journal of affective disorders |
| 23733030 | Pharmacogenetics in major depression: a comprehensive meta-analysis. | Niitsu T et al. | 2013 | Progress in neuro-psychopharmacology & biological psychiatry |
| 23759279 | HTR2A gene-child abuse interaction and association with a history of suicide attempt among Caucasian depressed psychiatric inpatients. | Shinozaki G et al. | 2013 | Journal of affective disorders |
| 24128936 | PharmGKB summary: venlafaxine pathway. | Sangkuhl K et al. | 2014 | Pharmacogenetics and genomics |
| 24192302 | Polymorphisms in serotonergic pathways influence the outcome of antidepressant therapy in psychiatric inpatients. | Staeker J et al. | 2014 | Genetic testing and molecular biomarkers |
| 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 |
| 24885933 | Towards the clinical implementation of pharmacogenetics in bipolar disorder. | Salloum NC et al. | 2014 | BMC medicine |
| 24944790 | Screening for 392 polymorphisms in 141 pharmacogenes. | Kim JY et al. | 2014 | Biomedical reports |
| 25108775 | Influence of 5-HTR2A genetic polymorphisms on the efficacy of antidepressants in the treatment of major depressive disorder: a meta-analysis. | Lin JY et al. | 2014 | Journal of affective disorders |
| 26262902 | Pharmacogenetic Study of Serotonin Transporter and 5HT2A Genotypes in Autism. | Najjar F et al. | 2015 | Journal of child and adolescent psychopharmacology |
| 26544898 | The impact of serotonin receptor 1A and 2A gene polymorphisms and interactions on suicide attempt and suicide risk in depressed patients with insufficient response to treatment--a European multicentre study. | Höfer P et al. | 2016 | International clinical psychopharmacology |
| 26989097 | Genome-wide association study of response to cognitive-behavioural therapy in children with anxiety disorders. | Coleman JR et al. | 2016 | The British journal of psychiatry |
| 27294413 | Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016. | Srivastava AK et al. | 2016 | Human genomics |
| 27445478 | 5-HTR1A and 5-HTR2A genetic polymorphisms and SSRI antidepressant response in depressive Chinese patients. | Dong ZQ et al. | 2016 | Neuropsychiatric disease and treatment |
| 27445670 | 5-HT2A Gene Variants Moderate the Association between PTSD and Reduced Default Mode Network Connectivity. | Miller MW et al. | 2016 | Frontiers in neuroscience |
| 27521242 | TPH-2 Polymorphisms Interact with Early Life Stress to Influence Response to Treatment with Antidepressant Drugs. | Xu Z et al. | 2016 | The international journal of neuropsychopharmacology |
| 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 |
| 27757066 | Pharmacogenetic tests for antipsychotic medications: clinical implications and considerations. | Eum S et al. | 2016 | Dialogues in clinical neuroscience |
| 29975559 | Further Support for the Involvement of Genetic Variants Related to the Serotonergic Pathway in the Antidepressant Response in Children and Adolescents After a 12-Month Follow-Up: Impact of the HTR2A rs7997012 Polymorphism. | Gassó P et al. | 2018 | Journal of child and adolescent psychopharmacology |
| 30093869 | Biological Predictors of Clozapine Response: A Systematic Review. | Samanaite R et al. | 2018 | Frontiers in psychiatry |
| 30178121 | Neuroplasticity, Neurotransmission and Brain-Related Genes in Major Depression and Bipolar Disorder: Focus on Treatment Outcomes in an Asiatic Sample. | Calabrò M et al. | 2018 | Advances in therapy |
| 31019472 | The Interaction of TPH2 and 5-HT2A Polymorphisms on Major Depressive Disorder Susceptibility in a Chinese Han Population: A Case-Control Study. | Yang J et al. | 2019 | Frontiers in psychiatry |
| 31721892 | Association of BDNF, HTR2A, TPH1, SLC6A4, and COMT polymorphisms with tDCS and escitalopram efficacy: ancillary analysis of a double-blind, placebo-controlled trial. | Brunoni AR et al. | 2020 | Revista brasileira de psiquiatria (Sao Paulo, Brazil |
| 32697408 | Common HTR2A variants and 5-HTTLPR are not associated with human in vivo serotonin 2A receptor levels. | Spies M et al. | 2020 | Human brain mapping |
| 32819202 | Association between genetic polymorphism and antidepressants in major depression: a network meta-analysis. | Du D et al. | 2020 | Pharmacogenomics |
| 33097827 | Associations between the 1438A/G, 102T/C, and rs7997012G/A polymorphisms of HTR2A and the safety and efficacy of antidepressants in depression: a meta-analysis. | Wan YS et al. | 2021 | The pharmacogenomics journal |
| 34385834 | Individualized Drugs' Selection by Evaluation of Drug Properties, Pharmacogenomics and Clinical Parameters: Performance of a Bioinformatic Tool Compared to a Clinically Established Counselling Process. | Borro M et al. | 2021 | Pharmacogenomics and personalized medicine |
| 35140610 | Genetic Factors Associated With Tardive Dyskinesia: From Pre-clinical Models to Clinical Studies. | Tsermpini EE et al. | 2021 | Frontiers in pharmacology |
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.