Name: rs2268491
Published: September 21, 2022
License: Open Access

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.

rs2268491

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:8758712 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.128092 (39455/308020, ALFA)
T=0.180615 (47807/264690, TOPMED)
T=0.163734 (22930/140044, GnomAD) (+ 22 more)
T=0.23137 (18209/78700, PAGE_STUDY)
T=0.29616 (8369/28258, 14KJPN)
T=0.29135 (4883/16760, 8.3KJPN)
T=0.2155 (1380/6404, 1000G_30x)
T=0.2137 (1070/5008, 1000G)
T=0.0714 (320/4480, Estonian)
T=0.1212 (467/3854, ALSPAC)
T=0.1192 (442/3708, TWINSUK)
T=0.3099 (908/2930, KOREAN)
T=0.2159 (450/2084, HGDP_Stanford)
T=0.2252 (426/1892, HapMap)
T=0.2991 (548/1832, Korea1K)
T=0.1488 (169/1136, Daghestan)
T=0.091 (91/998, GoNL)
T=0.280 (221/790, PRJEB37584)
T=0.095 (57/600, NorthernSweden)
T=0.222 (48/216, Qatari)
T=0.388 (83/214, Vietnamese)
C=0.422 (86/204, SGDP_PRJ)
T=0.24 (18/76, Ancient Sardinia)
T=0.17 (7/40, GENOME_DK)
C=0.33 (6/18, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: OXTR : Intron Variant
Publications: 17 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	313056	C=0.871592	T=0.128408
European	Sub	273464	C=0.881758	T=0.118242
African	Sub	12164	C=0.76225	T=0.23775
African Others	Sub	456	C=0.739	T=0.261
African American	Sub	11708	C=0.76315	T=0.23685
Asian	Sub	3914	C=0.7103	T=0.2897
East Asian	Sub	3170	C=0.6893	T=0.3107
Other Asian	Sub	744	C=0.800	T=0.200
Latin American 1	Sub	1132	C=0.8348	T=0.1652
Latin American 2	Sub	7218	C=0.7844	T=0.2156
South Asian	Sub	5226	C=0.8932	T=0.1068
Other	Sub	9938	C=0.8453	T=0.1547

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	308020	C=0.871908	T=0.128092
Allele Frequency Aggregator	European	Sub	270370	C=0.881714	T=0.118286
Allele Frequency Aggregator	African	Sub	11022	C=0.76084	T=0.23916
Allele Frequency Aggregator	Other	Sub	9138	C=0.8465	T=0.1535
Allele Frequency Aggregator	Latin American 2	Sub	7218	C=0.7844	T=0.2156
Allele Frequency Aggregator	South Asian	Sub	5226	C=0.8932	T=0.1068
Allele Frequency Aggregator	Asian	Sub	3914	C=0.7103	T=0.2897
Allele Frequency Aggregator	Latin American 1	Sub	1132	C=0.8348	T=0.1652
TopMed	Global	Study-wide	264690	C=0.819385	T=0.180615
gnomAD - Genomes	Global	Study-wide	140044	C=0.836266	T=0.163734
gnomAD - Genomes	European	Sub	75848	C=0.89367	T=0.10633
gnomAD - Genomes	African	Sub	41958	C=0.75978	T=0.24022
gnomAD - Genomes	American	Sub	13652	C=0.79395	T=0.20605
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.8051	T=0.1949
gnomAD - Genomes	East Asian	Sub	3116	C=0.6970	T=0.3030
gnomAD - Genomes	Other	Sub	2146	C=0.8225	T=0.1775
The PAGE Study	Global	Study-wide	78700	C=0.76863	T=0.23137
The PAGE Study	AfricanAmerican	Sub	32516	C=0.76249	T=0.23751
The PAGE Study	Mexican	Sub	10810	C=0.79149	T=0.20851
The PAGE Study	Asian	Sub	8318	C=0.7044	T=0.2956
The PAGE Study	PuertoRican	Sub	7918	C=0.8001	T=0.1999
The PAGE Study	NativeHawaiian	Sub	4534	C=0.7080	T=0.2920
The PAGE Study	Cuban	Sub	4230	C=0.8106	T=0.1894
The PAGE Study	Dominican	Sub	3828	C=0.7931	T=0.2069
The PAGE Study	CentralAmerican	Sub	2450	C=0.7861	T=0.2139
The PAGE Study	SouthAmerican	Sub	1980	C=0.7687	T=0.2313
The PAGE Study	NativeAmerican	Sub	1260	C=0.8302	T=0.1698
The PAGE Study	SouthAsian	Sub	856	C=0.910	T=0.090
14KJPN	JAPANESE	Study-wide	28258	C=0.70384	T=0.29616
8.3KJPN	JAPANESE	Study-wide	16760	C=0.70865	T=0.29135
1000Genomes_30x	Global	Study-wide	6404	C=0.7845	T=0.2155
1000Genomes_30x	African	Sub	1786	C=0.7268	T=0.2732
1000Genomes_30x	Europe	Sub	1266	C=0.8934	T=0.1066
1000Genomes_30x	South Asian	Sub	1202	C=0.8952	T=0.1048
1000Genomes_30x	East Asian	Sub	1170	C=0.6462	T=0.3538
1000Genomes_30x	American	Sub	980	C=0.779	T=0.221
1000Genomes	Global	Study-wide	5008	C=0.7863	T=0.2137
1000Genomes	African	Sub	1322	C=0.7254	T=0.2746
1000Genomes	East Asian	Sub	1008	C=0.6607	T=0.3393
1000Genomes	Europe	Sub	1006	C=0.8907	T=0.1093
1000Genomes	South Asian	Sub	978	C=0.898	T=0.102
1000Genomes	American	Sub	694	C=0.777	T=0.223
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9286	T=0.0714
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8788	T=0.1212
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8808	T=0.1192
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6901	T=0.3099
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7841	T=0.2159
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.689	T=0.311
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.862	T=0.138
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.774	T=0.226
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.869	T=0.131
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.740	T=0.260
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.769	T=0.231
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.82	T=0.18
HapMap	Global	Study-wide	1892	C=0.7748	T=0.2252
HapMap	American	Sub	770	C=0.810	T=0.190
HapMap	African	Sub	692	C=0.753	T=0.247
HapMap	Asian	Sub	254	C=0.689	T=0.311
HapMap	Europe	Sub	176	C=0.830	T=0.170
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7009	T=0.2991
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.8512	T=0.1488
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.868	T=0.132
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.847	T=0.153
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.795	T=0.205
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.843	T=0.157
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.85	T=0.15
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.81	T=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.909	T=0.091
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.720	T=0.280
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.720	T=0.280
Northern Sweden	ACPOP	Study-wide	600	C=0.905	T=0.095
Qatari	Global	Study-wide	216	C=0.778	T=0.222
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.612	T=0.388
SGDP_PRJ	Global	Study-wide	204	C=0.422	T=0.578
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	C=0.76	T=0.24
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	18	C=0.33	T=0.67

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.8758712C>T
GRCh37.p13 chr 3	NC_000003.11:g.8800398C>T
CAV3 RefSeqGene (LRG_329)	NG_008797.2:g.29903C>T

Gene: OXTR, oxytocin receptor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
OXTR transcript variant 1	NM_000916.4:c.923-5488G>A	N/A	Intron Variant
OXTR transcript variant 2	NM_001354653.2:c.923-5488… NM_001354653.2:c.923-5488G>A	N/A	Intron Variant
OXTR transcript variant 3	NM_001354654.2:c.923-5488… NM_001354654.2:c.923-5488G>A	N/A	Intron Variant
OXTR transcript variant 4	NM_001354655.2:c.923-5488… NM_001354655.2:c.923-5488G>A	N/A	Intron Variant
OXTR transcript variant 5	NM_001354656.3:c.923-5488… NM_001354656.3:c.923-5488G>A	N/A	Intron Variant
OXTR transcript variant X1	XR_007095681.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

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=	T
GRCh38.p14 chr 3	NC_000003.12:g.8758712=	NC_000003.12:g.8758712C>T
GRCh37.p13 chr 3	NC_000003.11:g.8800398=	NC_000003.11:g.8800398C>T
CAV3 RefSeqGene (LRG_329)	NG_008797.2:g.29903=	NG_008797.2:g.29903C>T
OXTR transcript variant 1	NM_000916.3:c.923-5488=	NM_000916.3:c.923-5488G>A
OXTR transcript variant 1	NM_000916.4:c.923-5488=	NM_000916.4:c.923-5488G>A
OXTR transcript variant 2	NM_001354653.2:c.923-5488=	NM_001354653.2:c.923-5488G>A
OXTR transcript variant 3	NM_001354654.2:c.923-5488=	NM_001354654.2:c.923-5488G>A
OXTR transcript variant 4	NM_001354655.2:c.923-5488=	NM_001354655.2:c.923-5488G>A
OXTR transcript variant 5	NM_001354656.3:c.923-5488=	NM_001354656.3:c.923-5488G>A

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

129 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3202248	Sep 28, 2001 (100)
2	RIKENSNPRC	ss49848818	Mar 13, 2006 (126)
3	ILLUMINA	ss66580901	Nov 29, 2006 (127)
4	ILLUMINA	ss67239427	Nov 29, 2006 (127)
5	ILLUMINA	ss67635993	Nov 29, 2006 (127)
6	ILLUMINA	ss70717763	May 26, 2008 (130)
7	ILLUMINA	ss71285910	May 16, 2007 (127)
8	ILLUMINA	ss74934326	Dec 06, 2007 (129)
9	ILLUMINA	ss79124461	Dec 15, 2007 (130)
10	KRIBB_YJKIM	ss84013242	Dec 15, 2007 (130)
11	BCMHGSC_JDW	ss91992532	Mar 24, 2008 (129)
12	BGI	ss103897861	Dec 01, 2009 (131)
13	ILLUMINA	ss121973209	Dec 01, 2009 (131)
14	ENSEMBL	ss138713621	Dec 01, 2009 (131)
15	ILLUMINA	ss153896439	Dec 01, 2009 (131)
16	GMI	ss155083137	Dec 01, 2009 (131)
17	ILLUMINA	ss159374285	Dec 01, 2009 (131)
18	ILLUMINA	ss160524220	Dec 01, 2009 (131)
19	ILLUMINA	ss171136643	Jul 04, 2010 (132)
20	ILLUMINA	ss173227394	Jul 04, 2010 (132)
21	BUSHMAN	ss202109336	Jul 04, 2010 (132)
22	1000GENOMES	ss219970743	Jul 14, 2010 (132)
23	1000GENOMES	ss231700282	Jul 14, 2010 (132)
24	1000GENOMES	ss239135779	Jul 15, 2010 (132)
25	GMI	ss277006556	May 04, 2012 (137)
26	PJP	ss292858685	May 09, 2011 (134)
27	ILLUMINA	ss480493141	May 04, 2012 (137)
28	ILLUMINA	ss480507499	May 04, 2012 (137)
29	ILLUMINA	ss481311176	Sep 08, 2015 (146)
30	ILLUMINA	ss485044090	May 04, 2012 (137)
31	ILLUMINA	ss537065003	Sep 08, 2015 (146)
32	TISHKOFF	ss556413308	Apr 25, 2013 (138)
33	SSMP	ss650078294	Apr 25, 2013 (138)
34	ILLUMINA	ss778861848	Sep 08, 2015 (146)
35	ILLUMINA	ss782968268	Sep 08, 2015 (146)
36	ILLUMINA	ss783930019	Sep 08, 2015 (146)
37	ILLUMINA	ss825454979	Apr 01, 2015 (144)
38	ILLUMINA	ss832224557	Sep 08, 2015 (146)
39	ILLUMINA	ss832886095	Jul 13, 2019 (153)
40	ILLUMINA	ss834322650	Sep 08, 2015 (146)
41	EVA-GONL	ss978252117	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1070160692	Aug 21, 2014 (142)
43	1000GENOMES	ss1302724868	Aug 21, 2014 (142)
44	HAMMER_LAB	ss1397329051	Sep 08, 2015 (146)
45	DDI	ss1429324837	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1579837591	Apr 01, 2015 (144)
47	EVA_DECODE	ss1587712221	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1606372974	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1649367007	Apr 01, 2015 (144)
50	EVA_SVP	ss1712552150	Apr 01, 2015 (144)
51	ILLUMINA	ss1752486624	Sep 08, 2015 (146)
52	HAMMER_LAB	ss1798826716	Sep 08, 2015 (146)
53	WEILL_CORNELL_DGM	ss1921503679	Feb 12, 2016 (147)
54	ILLUMINA	ss1946073864	Feb 12, 2016 (147)
55	ILLUMINA	ss1958534927	Feb 12, 2016 (147)
56	GENOMED	ss1969318778	Jul 19, 2016 (147)
57	JJLAB	ss2021304640	Sep 14, 2016 (149)
58	USC_VALOUEV	ss2149371869	Dec 20, 2016 (150)
59	HUMAN_LONGEVITY	ss2248922469	Dec 20, 2016 (150)
60	ILLUMINA	ss2633908596	Nov 08, 2017 (151)
61	ILLUMINA	ss2635115256	Nov 08, 2017 (151)
62	GRF	ss2704730708	Nov 08, 2017 (151)
63	ILLUMINA	ss2710964673	Nov 08, 2017 (151)
64	GNOMAD	ss2789316016	Nov 08, 2017 (151)
65	AFFY	ss2985865358	Nov 08, 2017 (151)
66	SWEGEN	ss2991798821	Nov 08, 2017 (151)
67	ILLUMINA	ss3022209274	Nov 08, 2017 (151)
68	BIOINF_KMB_FNS_UNIBA	ss3024415262	Nov 08, 2017 (151)
69	CSHL	ss3344875961	Nov 08, 2017 (151)
70	ILLUMINA	ss3625807521	Oct 11, 2018 (152)
71	ILLUMINA	ss3628584994	Oct 11, 2018 (152)
72	ILLUMINA	ss3631857428	Oct 11, 2018 (152)
73	ILLUMINA	ss3633281145	Oct 11, 2018 (152)
74	ILLUMINA	ss3633997566	Oct 11, 2018 (152)
75	ILLUMINA	ss3634878996	Oct 11, 2018 (152)
76	ILLUMINA	ss3635681784	Oct 11, 2018 (152)
77	ILLUMINA	ss3636575237	Oct 11, 2018 (152)
78	ILLUMINA	ss3637434081	Oct 11, 2018 (152)
79	ILLUMINA	ss3638395762	Oct 11, 2018 (152)
80	ILLUMINA	ss3639201674	Oct 11, 2018 (152)
81	ILLUMINA	ss3639618287	Oct 11, 2018 (152)
82	ILLUMINA	ss3640586299	Oct 11, 2018 (152)
83	ILLUMINA	ss3641141696	Oct 11, 2018 (152)
84	ILLUMINA	ss3641438209	Oct 11, 2018 (152)
85	ILLUMINA	ss3643354228	Oct 11, 2018 (152)
86	ILLUMINA	ss3644806398	Oct 11, 2018 (152)
87	ILLUMINA	ss3652675161	Oct 11, 2018 (152)
88	EGCUT_WGS	ss3659698743	Jul 13, 2019 (153)
89	EVA_DECODE	ss3708598137	Jul 13, 2019 (153)
90	ILLUMINA	ss3725988084	Jul 13, 2019 (153)
91	ACPOP	ss3729615703	Jul 13, 2019 (153)
92	ILLUMINA	ss3744210089	Jul 13, 2019 (153)
93	ILLUMINA	ss3745178807	Jul 13, 2019 (153)
94	EVA	ss3759636146	Jul 13, 2019 (153)
95	PAGE_CC	ss3771009081	Jul 13, 2019 (153)
96	ILLUMINA	ss3772674612	Jul 13, 2019 (153)
97	PACBIO	ss3784229966	Jul 13, 2019 (153)
98	PACBIO	ss3789759439	Jul 13, 2019 (153)
99	PACBIO	ss3794633182	Jul 13, 2019 (153)
100	KHV_HUMAN_GENOMES	ss3802787920	Jul 13, 2019 (153)
101	EVA	ss3827651670	Apr 25, 2020 (154)
102	HGDP	ss3847697124	Apr 25, 2020 (154)
103	SGDP_PRJ	ss3855186469	Apr 25, 2020 (154)
104	KRGDB	ss3900953499	Apr 25, 2020 (154)
105	KOGIC	ss3950623423	Apr 25, 2020 (154)
106	EVA	ss3984502594	Apr 26, 2021 (155)
107	EVA	ss3984971598	Apr 26, 2021 (155)
108	EVA	ss4017063686	Apr 26, 2021 (155)
109	TOPMED	ss4553567628	Apr 26, 2021 (155)
110	TOMMO_GENOMICS	ss5157709823	Apr 26, 2021 (155)
111	EVA	ss5237317856	Apr 26, 2021 (155)
112	1000G_HIGH_COVERAGE	ss5252980900	Oct 13, 2022 (156)
113	EVA	ss5314831923	Oct 13, 2022 (156)
114	EVA	ss5337766598	Oct 13, 2022 (156)
115	HUGCELL_USP	ss5452489377	Oct 13, 2022 (156)
116	EVA	ss5506879617	Oct 13, 2022 (156)
117	1000G_HIGH_COVERAGE	ss5530780588	Oct 13, 2022 (156)
118	SANFORD_IMAGENETICS	ss5624509482	Oct 13, 2022 (156)
119	SANFORD_IMAGENETICS	ss5631504554	Oct 13, 2022 (156)
120	TOMMO_GENOMICS	ss5688951288	Oct 13, 2022 (156)
121	EVA	ss5799568962	Oct 13, 2022 (156)
122	YY_MCH	ss5803464024	Oct 13, 2022 (156)
123	EVA	ss5825319931	Oct 13, 2022 (156)
124	EVA	ss5847211694	Oct 13, 2022 (156)
125	EVA	ss5847952727	Oct 13, 2022 (156)
126	EVA	ss5853482328	Oct 13, 2022 (156)
127	EVA	ss5867551540	Oct 13, 2022 (156)
128	EVA	ss5959762265	Oct 13, 2022 (156)
129	EVA	ss5979645051	Oct 13, 2022 (156)
130	1000Genomes	NC_000003.11 - 8800398	Oct 11, 2018 (152)
131	1000Genomes_30x	NC_000003.12 - 8758712	Oct 13, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 8800398	Oct 11, 2018 (152)
133	Genome-wide autozygosity in Daghestan	NC_000003.10 - 8775398	Apr 25, 2020 (154)
134	Genetic variation in the Estonian population	NC_000003.11 - 8800398	Oct 11, 2018 (152)
135	The Danish reference pan genome	NC_000003.11 - 8800398	Apr 25, 2020 (154)
136	gnomAD - Genomes	NC_000003.12 - 8758712	Apr 26, 2021 (155)
137	Genome of the Netherlands Release 5	NC_000003.11 - 8800398	Apr 25, 2020 (154)
138	HGDP-CEPH-db Supplement 1	NC_000003.10 - 8775398	Apr 25, 2020 (154)
139	HapMap	NC_000003.12 - 8758712	Apr 25, 2020 (154)
140	KOREAN population from KRGDB	NC_000003.11 - 8800398	Apr 25, 2020 (154)
141	Korean Genome Project	NC_000003.12 - 8758712	Apr 25, 2020 (154)
142	Northern Sweden	NC_000003.11 - 8800398	Jul 13, 2019 (153)
143	The PAGE Study	NC_000003.12 - 8758712	Jul 13, 2019 (153)
144	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000003.11 - 8800398	Apr 26, 2021 (155)
145	CNV burdens in cranial meningiomas	NC_000003.11 - 8800398	Apr 26, 2021 (155)
146	Qatari	NC_000003.11 - 8800398	Apr 25, 2020 (154)
147	SGDP_PRJ	NC_000003.11 - 8800398	Apr 25, 2020 (154)
148	Siberian	NC_000003.11 - 8800398	Apr 25, 2020 (154)
149	8.3KJPN	NC_000003.11 - 8800398	Apr 26, 2021 (155)
150	14KJPN	NC_000003.12 - 8758712	Oct 13, 2022 (156)
151	TopMed	NC_000003.12 - 8758712	Apr 26, 2021 (155)
152	UK 10K study - Twins	NC_000003.11 - 8800398	Oct 11, 2018 (152)
153	A Vietnamese Genetic Variation Database	NC_000003.11 - 8800398	Jul 13, 2019 (153)
154	ALFA	NC_000003.12 - 8758712	Apr 26, 2021 (155)

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)
rs60534166	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639201674, ss3639618287	NC_000003.9:8775397:C:T	NC_000003.12:8758711:C:T	(self)
305164, 375016, ss91992532, ss202109336, ss277006556, ss292858685, ss480493141, ss825454979, ss1397329051, ss1587712221, ss1712552150, ss2635115256, ss3643354228, ss3847697124	NC_000003.10:8775397:C:T	NC_000003.12:8758711:C:T	(self)
13867053, 7686060, 5436991, 6002530, 3375498, 8130893, 2900568, 197525, 51936, 3545609, 7203449, 1888223, 15679130, 7686060, 1673731, ss219970743, ss231700282, ss239135779, ss480507499, ss481311176, ss485044090, ss537065003, ss556413308, ss650078294, ss778861848, ss782968268, ss783930019, ss832224557, ss832886095, ss834322650, ss978252117, ss1070160692, ss1302724868, ss1429324837, ss1579837591, ss1606372974, ss1649367007, ss1752486624, ss1798826716, ss1921503679, ss1946073864, ss1958534927, ss1969318778, ss2021304640, ss2149371869, ss2633908596, ss2704730708, ss2710964673, ss2789316016, ss2985865358, ss2991798821, ss3022209274, ss3344875961, ss3625807521, ss3628584994, ss3631857428, ss3633281145, ss3633997566, ss3634878996, ss3635681784, ss3636575237, ss3637434081, ss3638395762, ss3640586299, ss3641141696, ss3641438209, ss3644806398, ss3652675161, ss3659698743, ss3729615703, ss3744210089, ss3745178807, ss3759636146, ss3772674612, ss3784229966, ss3789759439, ss3794633182, ss3827651670, ss3855186469, ss3900953499, ss3984502594, ss3984971598, ss4017063686, ss5157709823, ss5237317856, ss5314831923, ss5337766598, ss5506879617, ss5624509482, ss5631504554, ss5799568962, ss5825319931, ss5847211694, ss5847952727, ss5959762265, ss5979645051	NC_000003.11:8800397:C:T	NC_000003.12:8758711:C:T	(self)
18306523, 98487061, 2299051, 7001424, 230550, 22788392, 390945183, 13190177235, ss2248922469, ss3024415262, ss3708598137, ss3725988084, ss3771009081, ss3802787920, ss3950623423, ss4553567628, ss5252980900, ss5452489377, ss5530780588, ss5688951288, ss5803464024, ss5853482328, ss5867551540	NC_000003.12:8758711:C:T	NC_000003.12:8758711:C:T	(self)
ss3202248, ss49848818, ss66580901, ss67239427, ss67635993, ss70717763, ss71285910, ss74934326, ss79124461, ss84013242, ss103897861, ss121973209, ss138713621, ss153896439, ss155083137, ss159374285, ss160524220, ss171136643, ss173227394	NT_022517.18:8740397:C:T	NC_000003.12:8758711:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

17 citations for rs2268491

PMID	Title	Author	Year	Journal
17668382	Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium.	Salonen JT et al.	2007	American 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
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
22357335	The association between oxytocin receptor gene polymorphism (OXTR) and trait empathy.	Wu N et al.	2012	Journal of affective disorders
25092245	The oxytocin receptor gene (OXTR) is associated with autism spectrum disorder: a meta-analysis.	LoParo D et al.	2015	Molecular psychiatry
26322220	A comprehensive meta-analysis of common genetic variants in autism spectrum conditions.	Warrier V et al.	2015	Molecular autism
26713079	Is Oxytocin Application for Autism Spectrum Disorder Evidence-Based?	Lee SY et al.	2015	Experimental neurobiology
26858594	Oxytocin and Vasopressin Receptor Gene Polymorphisms: Role in Social and Psychiatric Traits.	Aspé-Sánchez M et al.	2015	Frontiers in 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
27920663	ASD and Genetic Associations with Receptors for Oxytocin and Vasopressin-AVPR1A, AVPR1B, and OXTR.	Francis SM et al.	2016	Frontiers in neuroscience
30918622	The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism.	Uzefovsky F et al.	2019	Molecular autism
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
34144447	Gene-environment interaction: Oxytocin receptor (OXTR) polymorphisms and parenting style as potential predictors for depressive symptoms.	Keijser R et al.	2021	Psychiatry research
35316293	The oxytocin receptor gene polymorphism rs2268491 and serum oxytocin alterations are indicative of autism spectrum disorder: A case-control paediatric study in Iraq with personalized medicine implications.	Al-Ali Z et al.	2022	PloS one

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs2268491