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.
rs2254298
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr3:8760542 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.177139 (46887/264690, TOPMED)A=0.160034 (22431/140164, GnomAD)A=0.13978 (6522/46658, ALFA) (+ 19 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- OXTR : Intron Variant
- Publications
- 131 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 | 46658 | G=0.86022 | A=0.13978 |
| European | Sub | 32396 | G=0.88712 | A=0.11288 |
| African | Sub | 4938 | G=0.7681 | A=0.2319 |
| African Others | Sub | 180 | G=0.767 | A=0.233 |
| African American | Sub | 4758 | G=0.7682 | A=0.2318 |
| Asian | Sub | 438 | G=0.680 | A=0.320 |
| East Asian | Sub | 372 | G=0.702 | A=0.298 |
| Other Asian | Sub | 66 | G=0.56 | A=0.44 |
| Latin American 1 | Sub | 574 | G=0.855 | A=0.145 |
| Latin American 2 | Sub | 4904 | G=0.7781 | A=0.2219 |
| South Asian | Sub | 162 | G=0.938 | A=0.062 |
| Other | Sub | 3246 | G=0.8771 | A=0.1229 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.822861 | A=0.177139 |
| gnomAD - Genomes | Global | Study-wide | 140164 | G=0.839966 | A=0.160034 |
| gnomAD - Genomes | European | Sub | 75926 | G=0.89280 | A=0.10720 |
| gnomAD - Genomes | African | Sub | 41984 | G=0.77532 | A=0.22468 |
| gnomAD - Genomes | American | Sub | 13652 | G=0.79212 | A=0.20788 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.7936 | A=0.2064 |
| gnomAD - Genomes | East Asian | Sub | 3126 | G=0.6935 | A=0.3065 |
| gnomAD - Genomes | Other | Sub | 2152 | G=0.8248 | A=0.1752 |
| Allele Frequency Aggregator | Total | Global | 46658 | G=0.86022 | A=0.13978 |
| Allele Frequency Aggregator | European | Sub | 32396 | G=0.88712 | A=0.11288 |
| Allele Frequency Aggregator | African | Sub | 4938 | G=0.7681 | A=0.2319 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 4904 | G=0.7781 | A=0.2219 |
| Allele Frequency Aggregator | Other | Sub | 3246 | G=0.8771 | A=0.1229 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 574 | G=0.855 | A=0.145 |
| Allele Frequency Aggregator | Asian | Sub | 438 | G=0.680 | A=0.320 |
| Allele Frequency Aggregator | South Asian | Sub | 162 | G=0.938 | A=0.062 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.70253 | A=0.29747 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.70692 | A=0.29308 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.7901 | A=0.2099 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.7508 | A=0.2492 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.8910 | A=0.1090 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.8952 | A=0.1048 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.6444 | A=0.3556 |
| 1000Genomes_30x | American | Sub | 980 | G=0.777 | A=0.223 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.7929 | A=0.2071 |
| 1000Genomes | African | Sub | 1322 | G=0.7534 | A=0.2466 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.6587 | A=0.3413 |
| 1000Genomes | Europe | Sub | 1006 | G=0.8887 | A=0.1113 |
| 1000Genomes | South Asian | Sub | 978 | G=0.898 | A=0.102 |
| 1000Genomes | American | Sub | 694 | G=0.777 | A=0.223 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.9279 | A=0.0721 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.8773 | A=0.1227 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.8800 | A=0.1200 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | G=0.6887 | A=0.3113, T=0.0000 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.6998 | A=0.3002 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.910 | A=0.090 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | G=0.720 | A=0.280 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | G=0.720 | A=0.280 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.905 | A=0.095 |
| HapMap | Global | Study-wide | 326 | G=0.791 | A=0.209 |
| HapMap | African | Sub | 118 | G=0.729 | A=0.271 |
| HapMap | American | Sub | 118 | G=0.932 | A=0.068 |
| HapMap | Asian | Sub | 90 | G=0.69 | A=0.31 |
| SGDP_PRJ | Global | Study-wide | 254 | G=0.413 | A=0.587 |
| Qatari | Global | Study-wide | 216 | G=0.782 | A=0.218 |
| A Vietnamese Genetic Variation Database | Global | Study-wide | 216 | G=0.625 | A=0.375 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 60 | G=0.77 | A=0.23 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.82 | A=0.17 |
| Siberian | Global | Study-wide | 18 | G=0.33 | A=0.67 |
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 3 | NC_000003.12:g.8760542G>A |
| GRCh38.p14 chr 3 | NC_000003.12:g.8760542G>T |
| GRCh37.p13 chr 3 | NC_000003.11:g.8802228G>A |
| GRCh37.p13 chr 3 | NC_000003.11:g.8802228G>T |
| CAV3 RefSeqGene (LRG_329) | NG_008797.2:g.31733G>A |
| CAV3 RefSeqGene (LRG_329) | NG_008797.2:g.31733G>T |
Gene: OXTR, oxytocin receptor
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| OXTR transcript variant 1 | NM_000916.4:c.922+6724C>T | N/A | Intron Variant |
| OXTR transcript variant 2 |
NM_001354653.2:c.922+6724… NM_001354653.2:c.922+6724C>T |
N/A | Intron Variant |
| OXTR transcript variant 3 |
NM_001354654.2:c.922+6724… NM_001354654.2:c.922+6724C>T |
N/A | Intron Variant |
| OXTR transcript variant 4 |
NM_001354655.2:c.922+6724… NM_001354655.2:c.922+6724C>T |
N/A | Intron Variant |
| OXTR transcript variant 5 |
NM_001354656.3:c.922+6724… NM_001354656.3:c.922+6724C>T |
N/A | Intron Variant |
| OXTR transcript variant X1 | XR_007095681.1:n. | 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.
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 | G= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 3 | NC_000003.12:g.8760542= | NC_000003.12:g.8760542G>A | NC_000003.12:g.8760542G>T |
| GRCh37.p13 chr 3 | NC_000003.11:g.8802228= | NC_000003.11:g.8802228G>A | NC_000003.11:g.8802228G>T |
| CAV3 RefSeqGene (LRG_329) | NG_008797.2:g.31733= | NG_008797.2:g.31733G>A | NG_008797.2:g.31733G>T |
| OXTR transcript variant 1 | NM_000916.3:c.922+6724= | NM_000916.3:c.922+6724C>T | NM_000916.3:c.922+6724C>A |
| OXTR transcript variant 1 | NM_000916.4:c.922+6724= | NM_000916.4:c.922+6724C>T | NM_000916.4:c.922+6724C>A |
| OXTR transcript variant 2 | NM_001354653.2:c.922+6724= | NM_001354653.2:c.922+6724C>T | NM_001354653.2:c.922+6724C>A |
| OXTR transcript variant 3 | NM_001354654.2:c.922+6724= | NM_001354654.2:c.922+6724C>T | NM_001354654.2:c.922+6724C>A |
| OXTR transcript variant 4 | NM_001354655.2:c.922+6724= | NM_001354655.2:c.922+6724C>T | NM_001354655.2:c.922+6724C>A |
| OXTR transcript variant 5 | NM_001354656.3:c.922+6724= | NM_001354656.3:c.922+6724C>T | NM_001354656.3:c.922+6724C>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#.
64 SubSNP,
22 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | YUSUKE | ss3202252 | Sep 28, 2001 (100) |
| 2 | TSC-CSHL | ss3274894 | Sep 28, 2001 (100) |
| 3 | ABI | ss44411444 | Mar 14, 2006 (126) |
| 4 | BCMHGSC_JDW | ss91992545 | Mar 24, 2008 (129) |
| 5 | BGI | ss103897867 | Dec 01, 2009 (131) |
| 6 | ENSEMBL | ss138713636 | Dec 01, 2009 (131) |
| 7 | GMI | ss155083152 | Dec 01, 2009 (131) |
| 8 | ILLUMINA | ss160522810 | Dec 01, 2009 (131) |
| 9 | BUSHMAN | ss202109356 | Jul 04, 2010 (132) |
| 10 | 1000GENOMES | ss219970748 | Jul 14, 2010 (132) |
| 11 | 1000GENOMES | ss231700293 | Jul 14, 2010 (132) |
| 12 | 1000GENOMES | ss239135784 | Jul 15, 2010 (132) |
| 13 | GMI | ss277006561 | May 04, 2012 (137) |
| 14 | ILLUMINA | ss481305514 | Sep 08, 2015 (146) |
| 15 | TISHKOFF | ss556413320 | Apr 25, 2013 (138) |
| 16 | SSMP | ss650078305 | Apr 25, 2013 (138) |
| 17 | EVA-GONL | ss978252138 | Aug 21, 2014 (142) |
| 18 | JMKIDD_LAB | ss1070160701 | Aug 21, 2014 (142) |
| 19 | 1000GENOMES | ss1302724920 | Aug 21, 2014 (142) |
| 20 | DDI | ss1429324841 | Apr 01, 2015 (144) |
| 21 | EVA_GENOME_DK | ss1579837604 | Apr 01, 2015 (144) |
| 22 | EVA_DECODE | ss1587712244 | Apr 01, 2015 (144) |
| 23 | EVA_UK10K_ALSPAC | ss1606373004 | Apr 01, 2015 (144) |
| 24 | EVA_UK10K_TWINSUK | ss1649367037 | Apr 01, 2015 (144) |
| 25 | HAMMER_LAB | ss1798826737 | Sep 08, 2015 (146) |
| 26 | WEILL_CORNELL_DGM | ss1921503695 | Feb 12, 2016 (147) |
| 27 | GENOMED | ss1969318783 | Jul 19, 2016 (147) |
| 28 | JJLAB | ss2021304655 | Sep 14, 2016 (149) |
| 29 | USC_VALOUEV | ss2149371881 | Dec 20, 2016 (150) |
| 30 | HUMAN_LONGEVITY | ss2248922576 | Dec 20, 2016 (150) |
| 31 | GRF | ss2704730718 | Nov 08, 2017 (151) |
| 32 | GNOMAD | ss2789316165 | Nov 08, 2017 (151) |
| 33 | SWEGEN | ss2991798847 | Nov 08, 2017 (151) |
| 34 | BIOINF_KMB_FNS_UNIBA | ss3024415267 | Nov 08, 2017 (151) |
| 35 | CSHL | ss3344875974 | Nov 08, 2017 (151) |
| 36 | ILLUMINA | ss3636575238 | Oct 11, 2018 (152) |
| 37 | EGCUT_WGS | ss3659698773 | Jul 13, 2019 (153) |
| 38 | EVA_DECODE | ss3708598173 | Jul 13, 2019 (153) |
| 39 | ACPOP | ss3729615721 | Jul 13, 2019 (153) |
| 40 | EVA | ss3759636164 | Jul 13, 2019 (153) |
| 41 | PACBIO | ss3784229968 | Jul 13, 2019 (153) |
| 42 | PACBIO | ss3789759441 | Jul 13, 2019 (153) |
| 43 | PACBIO | ss3794633184 | Jul 13, 2019 (153) |
| 44 | KHV_HUMAN_GENOMES | ss3802787932 | Jul 13, 2019 (153) |
| 45 | EVA | ss3827651679 | Apr 25, 2020 (154) |
| 46 | SGDP_PRJ | ss3855186497 | Apr 25, 2020 (154) |
| 47 | KRGDB | ss3900953531 | Apr 25, 2020 (154) |
| 48 | KOGIC | ss3950623448 | Apr 25, 2020 (154) |
| 49 | EVA | ss3984502597 | Apr 26, 2021 (155) |
| 50 | EVA | ss3984971601 | Apr 26, 2021 (155) |
| 51 | TOPMED | ss4553568106 | Apr 26, 2021 (155) |
| 52 | TOMMO_GENOMICS | ss5157709876 | Apr 26, 2021 (155) |
| 53 | 1000G_HIGH_COVERAGE | ss5252980941 | Oct 13, 2022 (156) |
| 54 | EVA | ss5337766694 | Oct 13, 2022 (156) |
| 55 | HUGCELL_USP | ss5452489415 | Oct 13, 2022 (156) |
| 56 | EVA | ss5506879618 | Oct 13, 2022 (156) |
| 57 | 1000G_HIGH_COVERAGE | ss5530780659 | Oct 13, 2022 (156) |
| 58 | SANFORD_IMAGENETICS | ss5631504573 | Oct 13, 2022 (156) |
| 59 | TOMMO_GENOMICS | ss5688951356 | Oct 13, 2022 (156) |
| 60 | YY_MCH | ss5803464037 | Oct 13, 2022 (156) |
| 61 | EVA | ss5825319951 | Oct 13, 2022 (156) |
| 62 | EVA | ss5853482333 | Oct 13, 2022 (156) |
| 63 | EVA | ss5867551597 | Oct 13, 2022 (156) |
| 64 | EVA | ss5959762290 | Oct 13, 2022 (156) |
| 65 | 1000Genomes | NC_000003.11 - 8802228 | Oct 11, 2018 (152) |
| 66 | 1000Genomes_30x | NC_000003.12 - 8760542 | Oct 13, 2022 (156) |
| 67 | The Avon Longitudinal Study of Parents and Children | NC_000003.11 - 8802228 | Oct 11, 2018 (152) |
| 68 | Genetic variation in the Estonian population | NC_000003.11 - 8802228 | Oct 11, 2018 (152) |
| 69 | The Danish reference pan genome | NC_000003.11 - 8802228 | Apr 25, 2020 (154) |
| 70 | gnomAD - Genomes | NC_000003.12 - 8760542 | Apr 26, 2021 (155) |
| 71 | Genome of the Netherlands Release 5 | NC_000003.11 - 8802228 | Apr 25, 2020 (154) |
| 72 | HapMap | NC_000003.12 - 8760542 | Apr 25, 2020 (154) |
| 73 | KOREAN population from KRGDB | NC_000003.11 - 8802228 | Apr 25, 2020 (154) |
| 74 | Korean Genome Project | NC_000003.12 - 8760542 | Apr 25, 2020 (154) |
| 75 | Northern Sweden | NC_000003.11 - 8802228 | Jul 13, 2019 (153) |
| 76 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000003.11 - 8802228 | Apr 26, 2021 (155) |
| 77 | CNV burdens in cranial meningiomas | NC_000003.11 - 8802228 | Apr 26, 2021 (155) |
| 78 | Qatari | NC_000003.11 - 8802228 | Apr 25, 2020 (154) |
| 79 | SGDP_PRJ | NC_000003.11 - 8802228 | Apr 25, 2020 (154) |
| 80 | Siberian | NC_000003.11 - 8802228 | Apr 25, 2020 (154) |
| 81 | 8.3KJPN | NC_000003.11 - 8802228 | Apr 26, 2021 (155) |
| 82 | 14KJPN | NC_000003.12 - 8760542 | Oct 13, 2022 (156) |
| 83 | TopMed | NC_000003.12 - 8760542 | Apr 26, 2021 (155) |
| 84 | UK 10K study - Twins | NC_000003.11 - 8802228 | Oct 11, 2018 (152) |
| 85 | A Vietnamese Genetic Variation Database | NC_000003.11 - 8802228 | Jul 13, 2019 (153) |
| 86 | ALFA | NC_000003.12 - 8760542 | 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).
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss91992545, ss202109356, ss277006561, ss1587712244 | NC_000003.10:8777227:G:A | NC_000003.12:8760541:G:A | (self) |
| 13867105, 7686090, 5437021, 6002543, 3375519, 8130925, 2900586, 197528, 51939, 3545625, 7203477, 1888235, 15679183, 7686090, 1673740, ss219970748, ss231700293, ss239135784, ss481305514, ss556413320, ss650078305, ss978252138, ss1070160701, ss1302724920, ss1429324841, ss1579837604, ss1606373004, ss1649367037, ss1798826737, ss1921503695, ss1969318783, ss2021304655, ss2149371881, ss2704730718, ss2789316165, ss2991798847, ss3344875974, ss3636575238, ss3659698773, ss3729615721, ss3759636164, ss3784229968, ss3789759441, ss3794633184, ss3827651679, ss3855186497, ss3900953531, ss3984502597, ss3984971601, ss5157709876, ss5337766694, ss5506879618, ss5631504573, ss5825319951, ss5959762290 | NC_000003.11:8802227:G:A | NC_000003.12:8760541:G:A | (self) |
| 18306594, 98487415, 2299055, 7001449, 22788460, 390945661, 9424652344, ss2248922576, ss3024415267, ss3708598173, ss3802787932, ss3950623448, ss4553568106, ss5252980941, ss5452489415, ss5530780659, ss5688951356, ss5803464037, ss5853482333, ss5867551597 | NC_000003.12:8760541:G:A | NC_000003.12:8760541:G:A | (self) |
| ss3202252, ss3274894, ss44411444, ss103897867, ss138713636, ss155083152, ss160522810 | NT_022517.18:8742227:G:A | NC_000003.12:8760541:G:A | (self) |
| 8130925, ss3900953531 | NC_000003.11:8802227:G:T | NC_000003.12:8760541:G:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
131
citations for rs2254298
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 15992526 | Positive association of the oxytocin receptor gene (OXTR) with autism in the Chinese Han population. | Wu S et al. | 2005 | Biological psychiatry |
| 17383819 | Association of the oxytocin receptor gene (OXTR) in Caucasian children and adolescents with autism. | Jacob S et al. | 2007 | Neuroscience letters |
| 17893705 | Association between the oxytocin receptor (OXTR) gene and autism: relationship to Vineland Adaptive Behavior Scales and cognition. | Lerer E et al. | 2008 | Molecular psychiatry |
| 18207134 | Genes controlling affiliative behavior as candidate genes for autism. | Yrigollen CM et al. | 2008 | Biological psychiatry |
| 19015103 | Oxytocin receptor (OXTR) and serotonin transporter (5-HTT) genes associated with observed parenting. | Bakermans-Kranenburg MJ et al. | 2008 | Social cognitive and affective neuroscience |
| 19376182 | Associations between the oxytocin receptor gene (OXTR) and affect, loneliness and intelligence in normal subjects. | Lucht MJ et al. | 2009 | Progress in neuro-psychopharmacology & biological psychiatry |
| 19461999 | The oxytocin receptor (OXTR) contributes to prosocial fund allocations in the dictator game and the social value orientations task. | Israel S et al. | 2009 | PloS one |
| 19515497 | Oxytocin receptor polymorphisms and adult attachment style in patients with depression. | Costa B et al. | 2009 | Psychoneuroendocrinology |
| 20094064 | Association of the oxytocin receptor (OXTR) gene polymorphisms with autism spectrum disorder (ASD) in the Japanese population. | Liu X et al. | 2010 | Journal of human genetics |
| 20488544 | The association between oxytocin receptor gene (OXTR) polymorphisms and affective temperaments, as measured by TEMPS-A. | Kawamura Y et al. | 2010 | Journal of affective disorders |
| 20585395 | No association between oxytocin receptor (OXTR) gene polymorphisms and experimentally elicited social preferences. | Apicella CL et al. | 2010 | PloS one |
| 20708845 | Oxytocin receptor gene polymorphism (rs2254298) interacts with familial risk for psychopathology to predict symptoms of depression and anxiety in adolescent girls. | Thompson RJ et al. | 2011 | Psychoneuroendocrinology |
| 20832055 | Association between the oxytocin receptor gene and amygdalar volume in healthy adults. | Inoue H et al. | 2010 | Biological psychiatry |
| 21208749 | Variant in oxytocin receptor gene is associated with amygdala volume. | Furman DJ et al. | 2011 | Psychoneuroendocrinology |
| 21484202 | Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. | Campbell DB et al. | 2011 | Journal of neurodevelopmental disorders |
| 21749372 | Dopaminergic, serotonergic, and oxytonergic candidate genes associated with infant attachment security and disorganization? In search of main and interaction effects. | Luijk MP et al. | 2011 | Journal of child psychology and psychiatry, and allied disciplines |
| 21872215 | Neurogenetic effects of OXTR rs2254298 in the extended limbic system of healthy Caucasian adults. | Tost H et al. | 2011 | Biological psychiatry |
| 21885035 | ||||
| 22015110 | Variation in the oxytocin receptor gene is associated with pair-bonding and social behavior. | Walum H et al. | 2012 | Biological psychiatry |
| 22336563 | Sensitive parenting is associated with plasma oxytocin and polymorphisms in the OXTR and CD38 genes. | Feldman R et al. | 2012 | Biological psychiatry |
| 22357335 | The association between oxytocin receptor gene polymorphism (OXTR) and trait empathy. | Wu N et al. | 2012 | Journal of affective disorders |
| 22487732 | Influence of COX-2 and OXTR polymorphisms on treatment outcome in treatment resistant depression. | Mendlewicz J et al. | 2012 | Neuroscience letters |
| 22510359 | Does the oxytocin receptor (OXTR) polymorphism (rs2254298) confer 'vulnerability' for psychopathology or 'differential susceptibility'? Insights from evolution. | Brüne M et al. | 2012 | BMC medicine |
| 22580735 | Breastfeeding and its relation to maternal sensitivity and infant attachment. | Tharner A et al. | 2012 | Journal of developmental and behavioral pediatrics |
| 22615702 | Imaging-genetics in autism spectrum disorder: advances, translational impact, and future directions. | Ameis SH et al. | 2012 | Frontiers in psychiatry |
| 22736892 | Oxytocin in schizophrenia: a review of evidence for its therapeutic effects. | Macdonald K et al. | 2012 | Acta neuropsychiatrica |
| 22809402 | Associations between the oxytocin receptor gene (OXTR) and "mind-reading" in humans--an exploratory study. | Lucht MJ et al. | 2013 | Nordic journal of psychiatry |
| 23087634 | DNA methylation of the oxytocin receptor gene predicts neural response to ambiguous social stimuli. | Jack A et al. | 2012 | Frontiers in human neuroscience |
| 23089921 | Common oxytocin receptor gene polymorphisms and the risk for preterm birth. | Kuessel L et al. | 2013 | Disease markers |
| 23284802 | Association between oxytocin receptor gene polymorphisms and self-rated 'empathic concern' in schizophrenia. | Montag C et al. | 2012 | PloS one |
| 23325323 | Parental oxytocin and early caregiving jointly shape children's oxytocin response and social reciprocity. | Feldman R et al. | 2013 | Neuropsychopharmacology |
| 23335876 | Sex, receptors, and attachment: a review of individual factors influencing response to oxytocin. | Macdonald KS et al. | 2012 | Frontiers in neuroscience |
| 23921259 | A sociability gene? Meta-analysis of oxytocin receptor genotype effects in humans. | Bakermans-Kranenburg MJ et al. | 2014 | Psychiatric genetics |
| 23946005 | Neural correlate of autistic-like traits and a common allele in the oxytocin receptor gene. | Saito Y et al. | 2014 | Social cognitive and affective neuroscience |
| 24059750 | Polymorphisms in the oxytocin receptor gene are associated with the development of psychopathy. | Dadds MR et al. | 2014 | Development and psychopathology |
| 24596569 | Gene-environment interactions and intermediate phenotypes: early trauma and depression. | Hornung OP et al. | 2014 | Frontiers in endocrinology |
| 24814480 | Social cognition, face processing, and oxytocin receptor single nucleotide polymorphisms in typically developing children. | Slane MM et al. | 2014 | Developmental cognitive neuroscience |
| 24916666 | Association between the oxytocin receptor (OXTR) gene and children's social cognition at 18 months. | Wade M et al. | 2014 | Genes, brain, and behavior |
| 25009457 | Social bonding: regulation by neuropeptides. | Lieberwirth C et al. | 2014 | Frontiers in neuroscience |
| 25092245 | The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis. | LoParo D et al. | 2015 | Molecular psychiatry |
| 25092315 | Plasma oxytocin concentrations and OXTR polymorphisms predict social impairments in children with and without autism spectrum disorder. | Parker KJ et al. | 2014 | Proceedings of the National Academy of Sciences of the United States of America |
| 25405348 | Oxytocin and vasopressin receptor gene variation as a proximate base for inter- and intraspecific behavioral differences in bonobos and chimpanzees. | Staes N et al. | 2014 | PloS one |
| 25450139 | Preliminary evidence for the interaction of the oxytocin receptor gene (oxtr) and face processing in differentiating prenatal smoking patterns. | Massey SH et al. | 2015 | Neuroscience letters |
| 25773927 | Association between the oxytocin receptor gene polymorphism (rs53576) and bulimia nervosa. | Kim YR et al. | 2015 | European eating disorders review |
| 26025338 | The CD38 genotype (rs1800561 (4693C>T): R140W) is associated with an increased risk of admission to the neonatal intensive care unit. | Enami N et al. | 2015 | Early human development |
| 26106053 | Severity of eating disorder symptoms related to oxytocin receptor polymorphisms in anorexia nervosa. | Acevedo SF et al. | 2015 | Psychiatry research |
| 26257770 | Interaction between oxytocin receptor DNA methylation and genotype is associated with risk of postpartum depression in women without depression in pregnancy. | Bell AF et al. | 2015 | Frontiers in genetics |
| 26322220 | A comprehensive meta-analysis of common genetic variants in autism spectrum conditions. | Warrier V et al. | 2015 | Molecular autism |
| 26389606 | Genetic moderation of stability in attachment security from early childhood to age 18 years: A replication study. | Raby KL et al. | 2015 | Developmental psychology |
| 26392129 | Oxytocin Pathway Genes: Evolutionary Ancient System Impacting on Human Affiliation, Sociality, and Psychopathology. | Feldman R et al. | 2016 | Biological psychiatry |
| 26477647 | Amygdala responses to salient social cues vary with oxytocin receptor genotype in youth. | Marusak HA et al. | 2015 | Neuropsychologia |
| 26599592 | Lack of Association between Oxytocin Receptor (OXTR) Gene Polymorphisms and Alexithymia: Evidence from Patients with Obsessive-Compulsive Disorder. | Koh MJ et al. | 2015 | PloS one |
| 26713079 | Is Oxytocin Application for Autism Spectrum Disorder Evidence-Based? | Lee SY et al. | 2015 | Experimental neurobiology |
| 26738630 | Polymorphisms of two loci at the oxytocin receptor gene in populations of Africa, Asia and South Europe. | Butovskaya PR et al. | 2016 | BMC genetics |
| 26858594 | Oxytocin and Vasopressin Receptor Gene Polymorphisms: Role in Social and Psychiatric Traits. | Aspé-Sánchez M et al. | 2015 | Frontiers in neuroscience |
| 26901829 | BDNF Val66Met Polymorphism Is Associated with Self-Reported Empathy. | Taschereau-Dumouchel V et al. | 2016 | PloS one |
| 26998571 | Oxytocin and parent-child interaction in the development of empathy among children at risk for autism. | McDonald NM et al. | 2016 | Developmental psychology |
| 27036876 | An oxytocin receptor polymorphism predicts amygdala reactivity and antisocial behavior in men. | Waller R et al. | 2016 | Social cognitive and affective neuroscience |
| 27071789 | The Potential of Nasal Oxytocin Administration for Remediation of Autism Spectrum Disorders. | Okamoto Y et al. | 2016 | CNS & neurological disorders drug targets |
| 27242401 | Variants in Adjacent Oxytocin/Vasopressin Gene Region and Associations with ASD Diagnosis and Other Autism Related Endophenotypes. | Francis SM et al. | 2016 | Frontiers in neuroscience |
| 27458336 | Genetic Syndromes, Maternal Diseases and Antenatal Factors Associated with Autism Spectrum Disorders (ASD). | Ornoy A et al. | 2016 | Frontiers in neuroscience |
| 27467763 | Association of a Common Oxytocin Receptor Gene Polymorphism with Self-Reported 'Empathic Concern' in a Large Population of Healthy Volunteers. | Huetter FK et al. | 2016 | PloS one |
| 27620964 | Thinking and doing: the effects of dopamine and oxytocin genes and executive function on mothering behaviours. | Tombeau Cost K et al. | 2017 | Genes, brain, and behavior |
| 27650102 | Implicit association to infant faces: Genetics, early care experiences, and cultural factors influence caregiving propensities. | Senese VP et al. | 2017 | Behavioural brain research |
| 27693815 | Congenital prosopagnosia is associated with a genetic variation in the oxytocin receptor (OXTR) gene: An exploratory study. | Cattaneo Z et al. | 2016 | Neuroscience |
| 27713694 | Variation in the Oxytocin Receptor Gene Is Associated with Face Recognition and its Neural Correlates. | Westberg L et al. | 2016 | Frontiers in behavioral neuroscience |
| 27766960 | Spontaneous preterm birth and single nucleotide gene polymorphisms: a recent update. | Sheikh IA et al. | 2016 | BMC genomics |
| 27818356 | Association between oxytocin and receptor genetic polymorphisms and aggression in a northern Chinese Han population with alcohol dependence. | Yang L et al. | 2017 | Neuroscience letters |
| 27847593 | Contribution of oxytocin receptor polymorphisms to amygdala activation in schizophrenia spectrum disorders. | Haram M et al. | 2016 | BJPsych open |
| 27862641 | Association Between Oxytocin Receptor Genotype, Maternal Care, and Eating Disorder Behaviours in a Community Sample of Women. | Micali N et al. | 2017 | European eating disorders review |
| 27872764 | Genetic Regulation of Maternal Oxytocin Response and Its Influences on Maternal Behavior. | Mehta D et al. | 2016 | Neural plasticity |
| 27920663 | ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR. | Francis SM et al. | 2016 | Frontiers in neuroscience |
| 28017919 | Relationship of a common OXTR gene variant to brain structure and default mode network function in healthy humans. | Wang J et al. | 2017 | NeuroImage |
| 28353027 | The association of childhood maltreatment with depression and anxiety is not moderated by the oxytocin receptor gene. | Tollenaar MS et al. | 2017 | European archives of psychiatry and clinical neuroscience |
| 28377734 | How Oxytocin Receptor (OXTR) Single Nucleotide Polymorphisms Act on Prosociality: The Mediation Role of Moral Evaluation. | Shang S et al. | 2017 | Frontiers in psychology |
| 28484366 | Serum Oxytocin Levels and an Oxytocin Receptor Gene Polymorphism (rs2254298) Indicate Social Deficits in Children and Adolescents with Autism Spectrum Disorders. | Yang S et al. | 2017 | Frontiers in neuroscience |
| 28511728 | Birth weight interacts with a functional variant of the oxytocin receptor gene (OXTR) to predict executive functioning in children. | Wade M et al. | 2018 | Development and psychopathology |
| 28530679 | Polymorphisms of the oxytocin receptor gene and overeating: the intermediary role of endophenotypic risk factors. | Davis C et al. | 2017 | Nutrition & diabetes |
| 28748210 | Dataset on genetic and physiological adults׳ responses to social distress. | Bonassi A et al. | 2017 | Data in brief |
| 28865405 | The role of stress-regulation genes in moderating the association of stress and daily-life psychotic experiences. | Cristóbal-Narváez P et al. | 2017 | Acta psychiatrica Scandinavica |
| 28865941 | A field study of the association between CD38 gene and altruistic behavior: Empathic response as a mediator. | Liu J et al. | 2017 | Psychoneuroendocrinology |
| 28912494 | Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders. | Baribeau DA et al. | 2017 | Scientific reports |
| 28915380 | Oxytocin receptor gene polymorphisms exert a modulating effect on the onset age in patients with obsessive-compulsive disorder. | Kang JI et al. | 2017 | Psychoneuroendocrinology |
| 29027364 | A functional polymorphism of the OXTR gene is associated with autistic traits in Caucasian and Asian populations. | Montag C et al. | 2017 | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| 29033100 | Oxytocin receptors (OXTR) and early parental care: An interaction that modulates psychiatric disorders. | Cataldo I et al. | 2018 | Research in developmental disabilities |
| 29312041 | Gaze-Following and Reaction to an Aversive Social Interaction Have Corresponding Associations with Variation in the OXTR Gene in Dogs but Not in Human Infants. | Oláh K et al. | 2017 | Frontiers in psychology |
| 29353531 | Oxytocin receptor gene variation, behavioural inhibition, and adult separation anxiety: Role in complicated grief. | Schiele MA et al. | 2018 | The world journal of biological psychiatry |
| 29674985 | Dog-Owner Attachment Is Associated With Oxytocin Receptor Gene Polymorphisms in Both Parties. A Comparative Study on Austrian and Hungarian Border Collies. | Kovács K et al. | 2018 | Frontiers in psychology |
| 29680729 | Oxytocin receptor gene (OXTR) variant rs1042778 moderates the influence of family environment on changes in perceived social support over time. | Dobewall H et al. | 2018 | Journal of affective disorders |
| 29688369 | The SNPcurator: literature mining of enriched SNP-disease associations. | Tawfik NS et al. | 2018 | Database |
| 29912955 | Oxytocin receptor gene variations and socio-emotional effects of MDMA: A pooled analysis of controlled studies in healthy subjects. | Vizeli P et al. | 2018 | PloS one |
| 29992684 | A systematic review: Candidate gene and environment interaction on alcohol use and misuse among adolescents and young adults. | Kim J et al. | 2018 | The American journal on addictions |
| 30110949 | Associations between Oxytocin Receptor Gene Polymorphisms, Empathy towards Animals and Implicit Associations towards Animals. | Connor M et al. | 2018 | Animals |
| 30243577 | Intranasal oxytocin and OXTR genotype effects on resting state functional connectivity: A systematic review. | Seeley SH et al. | 2018 | Neuroscience and biobehavioral reviews |
| 30311451 | Oxytocin receptor gene variants are associated with emotion recognition and resilience, but not with false-belief reasoning performance in healthy young Korean volunteers. | Kim HW et al. | 2019 | CNS neuroscience & therapeutics |
| 30405505 | A Longitudinal Multilevel Study of the "Social" Genotype and Diversity of the Phenotype. | Oksman E et al. | 2018 | Frontiers in psychology |
| 30542304 | Oxytocin Receptor Polymorphism Decreases Midline Neural Activations to Social Stimuli in Anorexia Nervosa. | Sala M et al. | 2018 | Frontiers in psychology |
| 30572177 | Genetic and peripheral markers of the oxytocin system and parental care jointly support the cross-generational transmission of bonding across three generations. | Fujiwara T et al. | 2019 | Psychoneuroendocrinology |
| 30592969 | Implicit associations to infant cry: Genetics and early care experiences influence caregiving propensities. | Senese VP et al. | 2019 | Hormones and behavior |
| 30806136 | Childhood emotional neglect and oxytocin receptor variants: Association with limbic brain volumes. | Womersley JS et al. | 2020 | The world journal of biological psychiatry |
| 30918622 | The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism. | Uzefovsky F et al. | 2019 | Molecular autism |
| 31021112 | Common variants of the oxytocin receptor gene do not predict the positive mood benefits of prosocial spending. | Whillans AV et al. | 2020 | Emotion (Washington, D.C.) |
| 31025834 | Cumulative Risk of the Oxytocin Receptor Gene Interacts with Prenatal Exposure to Oxytocin Receptor Antagonist to Predict Children's Social Communication Development. | Friedlander E et al. | 2019 | Autism research |
| 31098723 | Childhood adversity and parenting behavior: the role of oxytocin receptor gene polymorphisms. | Reichl C et al. | 2019 | Journal of neural transmission (Vienna, Austria |
| 31202819 | The role of oxytocinergic genes in the intergenerational transmission of parent-child relationship qualities. | Savelieva K et al. | 2019 | Hormones and behavior |
| 31291229 | Genetic Susceptibility to Posttraumatic Stress Disorder: Analyses of the Oxytocin Receptor, Retinoic Acid Receptor-Related Orphan Receptor A and Cannabinoid Receptor 1 Genes. | Kučukalić S et al. | 2019 | Psychiatria Danubina |
| 31326852 | Association of oxytocin levels and oxytocin receptor gene polymorphism (rs2254298) with cardiovascular risk factors in Brazilian elderly from Primary Health Care. | Jacondino CB et al. | 2019 | Archives of gerontology and geriatrics |
| 31385420 | Interaction between polymorphisms of the oxytocinergic system genes and emotion perception in inpatients with anorexia nervosa. | Kucharska K et al. | 2019 | European eating disorders review |
| 31415827 | Oxytocin modulation of self-referential processing is partly replicable and sensitive to oxytocin receptor genotype. | Zhao W et al. | 2020 | Progress in neuro-psychopharmacology & biological psychiatry |
| 31604456 | Oxytocin levels in low-risk primiparas following breast stimulation for spontaneous onset of labor: a quasi-experimental study. | Takahata K et al. | 2019 | BMC pregnancy and childbirth |
| 32444796 | Oxytocin receptor gene and parental bonding modulate prefrontal responses to cries: a NIRS Study. | Cataldo I et al. | 2020 | Scientific reports |
| 32535602 | Polymorphism of the Oxytocin Receptor (OXTR) Gene Affects the Circulating Oxytocin Receptor Levels in Late-Term Pregnancy in a Turkish Population. | Akdemir N et al. | 2020 | Gynecologic and obstetric investigation |
| 32602428 | A systematic review of gene-by-intervention studies of alcohol and other substance use. | Neale ZE et al. | 2021 | Development and psychopathology |
| 32634747 | The OXTR polymorphisms are not associated with attachment dimensions: A three-approach study. | Gong P et al. | 2020 | Psychoneuroendocrinology |
| 32693857 | An interaction between early threat exposure and the oxytocin receptor in females: Disorder-specific versus general risk for psychopathology and social-emotional mediators. | Byrd AL et al. | 2021 | Development and psychopathology |
| 32717294 | A Novel Link between the Oxytocin Receptor Gene and Impulsivity. | Bozorgmehr A et al. | 2020 | Neuroscience |
| 33022913 | Oxytocin Receptor Gene Polymorphisms and Early Parental Bonding Interact in Shaping Instagram Social Behavior. | Bonassi A et al. | 2020 | International journal of environmental research and public health |
| 33272333 | A randomized trial shows dose-frequency and genotype may determine the therapeutic efficacy of intranasal oxytocin. | Kou J et al. | 2022 | Psychological medicine |
| 33303340 | OXTR rs53576 Variation with Breast and Nipple Pain in Breastfeeding Women. | Lucas R et al. | 2021 | Pain management nursing |
| 34091593 | Oxytocin receptor gene polymorphism and low serum oxytocin level are associated with hyperphagia and obesity in adolescents. | Çatli G et al. | 2021 | International journal of obesity (2005) |
| 34118640 | OXTR moderates adverse childhood experiences on depressive symptoms among incarcerated males. | Zhang J et al. | 2021 | Journal of psychiatric research |
| 34256847 | Review of eating disorders and oxytocin receptor polymorphisms. | Burmester V et al. | 2021 | Journal of eating disorders |
| 34611556 | The relation between oxytocin receptor gene polymorphisms, adult attachment and Instagram sociability: An exploratory analysis. | Carollo A et al. | 2021 | Heliyon |
| 35063684 | Oxytocin receptor genotype moderates the association between maternal prenatal stress and infant early self-regulation. | Kajanoja J et al. | 2022 | Psychoneuroendocrinology |
| 35207633 | The Associations of Single Nucleotide Polymorphisms with Risk and Symptoms of Irritable Bowel Syndrome. | Zhao T et al. | 2022 | Journal of personalized medicine |
| 35222513 | Impact of OXTR Polymorphisms on Subjective Well-Being: The Intermediary Role of Attributional Style. | Ji L et al. | 2021 | Frontiers in genetics |
| 35385511 | Moral judgment and hormones: A systematic literature review. | Freitas CCMC et al. | 2022 | PloS one |
| 35564961 | The Interaction Effect of Parental Rejection and Oxytocin Receptor Gene Polymorphism on Depression: A Cross-Cultural Study in Non-Clinical Samples. | Senese VP et al. | 2022 | International journal of environmental research and public health |
| 35656579 | Oxytocin receptor gene, post-traumatic stress disorder and dissociation in a community sample of European American women. | Lee H et al. | 2022 | BJPsych open |
| 36087156 | Genetic Variations in Elements of the Oxytocinergic Pathway are Associated with Attention/Hyperactivity Problems and Anxiety Problems in Childhood. | Camerini L et al. | 2024 | Child psychiatry and human development |
| 36098825 | Joint Roles of Oxytocin- and Dopamine-Related Genes and Childhood Parenting Experience in Maternal Supportive Social Network. | Koyama Y et al. | 2024 | Child psychiatry and human development |
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
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.