Name: rs11743810
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.

rs11743810

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:138466715 (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=0.467634 (123778/264690, TOPMED)
T=0.496443 (111101/223794, GnomAD_exome)
C=0.461442 (100755/218348, ALFA) (+ 25 more)
T=0.487794 (68259/139934, GnomAD)
T=0.497045 (56851/114378, ExAC)
T=0.18092 (5112/28256, 14KJPN)
T=0.17836 (2989/16758, 8.3KJPN)
T=0.48762 (6342/13006, GO-ESP)
T=0.3676 (2354/6404, 1000G_30x)
T=0.3604 (1805/5008, 1000G)
C=0.3679 (1648/4480, Estonian)
C=0.4450 (1715/3854, ALSPAC)
C=0.4450 (1650/3708, TWINSUK)
T=0.1860 (545/2930, KOREAN)
T=0.4055 (845/2084, HGDP_Stanford)
T=0.3847 (717/1864, HapMap)
T=0.1752 (321/1832, Korea1K)
C=0.455 (454/998, GoNL)
C=0.452 (271/600, NorthernSweden)
C=0.440 (235/534, MGP)
T=0.086 (42/488, Vietnamese)
C=0.350 (121/346, SGDP_PRJ)
C=0.378 (115/304, FINRISK)
T=0.407 (88/216, Qatari)
C=0.471 (48/102, Ancient Sardinia)
T=0.39 (24/62, PharmGKB)
C=0.34 (15/44, Siberian)
C=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EGR1 : Intron Variant
Publications: 3 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	218348	C=0.461442	T=0.538558
European	Sub	181850	C=0.442161	T=0.557839
African	Sub	10998	C=0.66812	T=0.33188
African Others	Sub	368	C=0.712	T=0.288
African American	Sub	10630	C=0.66660	T=0.33340
Asian	Sub	806	C=0.818	T=0.182
East Asian	Sub	598	C=0.831	T=0.169
Other Asian	Sub	208	C=0.779	T=0.221
Latin American 1	Sub	988	C=0.485	T=0.515
Latin American 2	Sub	9032	C=0.4443	T=0.5557
South Asian	Sub	5048	C=0.6246	T=0.3754
Other	Sub	9626	C=0.4878	T=0.5122

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
TopMed	Global	Study-wide	264690	C=0.532366	T=0.467634
gnomAD - Exomes	Global	Study-wide	223794	C=0.503557	T=0.496443
gnomAD - Exomes	European	Sub	120404	C=0.424213	T=0.575787
gnomAD - Exomes	Asian	Sub	43174	C=0.72771	T=0.27229
gnomAD - Exomes	American	Sub	31556	C=0.43101	T=0.56899
gnomAD - Exomes	African	Sub	16006	C=0.67300	T=0.32700
gnomAD - Exomes	Ashkenazi Jewish	Sub	7242	C=0.4413	T=0.5587
gnomAD - Exomes	Other	Sub	5412	C=0.4858	T=0.5142
Allele Frequency Aggregator	Total	Global	218348	C=0.461442	T=0.538558
Allele Frequency Aggregator	European	Sub	181850	C=0.442161	T=0.557839
Allele Frequency Aggregator	African	Sub	10998	C=0.66812	T=0.33188
Allele Frequency Aggregator	Other	Sub	9626	C=0.4878	T=0.5122
Allele Frequency Aggregator	Latin American 2	Sub	9032	C=0.4443	T=0.5557
Allele Frequency Aggregator	South Asian	Sub	5048	C=0.6246	T=0.3754
Allele Frequency Aggregator	Latin American 1	Sub	988	C=0.485	T=0.515
Allele Frequency Aggregator	Asian	Sub	806	C=0.818	T=0.182
gnomAD - Genomes	Global	Study-wide	139934	C=0.512206	T=0.487794
gnomAD - Genomes	European	Sub	75776	C=0.42540	T=0.57460
gnomAD - Genomes	African	Sub	41918	C=0.66947	T=0.33053
gnomAD - Genomes	American	Sub	13652	C=0.45385	T=0.54615
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.4392	T=0.5608
gnomAD - Genomes	East Asian	Sub	3126	C=0.8436	T=0.1564
gnomAD - Genomes	Other	Sub	2140	C=0.5070	T=0.4930
ExAC	Global	Study-wide	114378	C=0.502955	T=0.497045
ExAC	Europe	Sub	71456	C=0.43045	T=0.56955
ExAC	Asian	Sub	20326	C=0.71908	T=0.28092
ExAC	American	Sub	11504	C=0.42185	T=0.57815
ExAC	African	Sub	10266	C=0.67047	T=0.32953
ExAC	Other	Sub	826	C=0.505	T=0.495
14KJPN	JAPANESE	Study-wide	28256	C=0.81908	T=0.18092
8.3KJPN	JAPANESE	Study-wide	16758	C=0.82164	T=0.17836
GO Exome Sequencing Project	Global	Study-wide	13006	C=0.51238	T=0.48762
GO Exome Sequencing Project	European American	Sub	8600	C=0.4356	T=0.5644
GO Exome Sequencing Project	African American	Sub	4406	C=0.6623	T=0.3377
1000Genomes_30x	Global	Study-wide	6404	C=0.6324	T=0.3676
1000Genomes_30x	African	Sub	1786	C=0.7150	T=0.2850
1000Genomes_30x	Europe	Sub	1266	C=0.4534	T=0.5466
1000Genomes_30x	South Asian	Sub	1202	C=0.6739	T=0.3261
1000Genomes_30x	East Asian	Sub	1170	C=0.8282	T=0.1718
1000Genomes_30x	American	Sub	980	C=0.429	T=0.571
1000Genomes	Global	Study-wide	5008	C=0.6396	T=0.3604
1000Genomes	African	Sub	1322	C=0.7163	T=0.2837
1000Genomes	East Asian	Sub	1008	C=0.8214	T=0.1786
1000Genomes	Europe	Sub	1006	C=0.4642	T=0.5358
1000Genomes	South Asian	Sub	978	C=0.677	T=0.323
1000Genomes	American	Sub	694	C=0.431	T=0.569
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3679	T=0.6321
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4450	T=0.5550
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4450	T=0.5550
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8140	T=0.1860
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.5945	T=0.4055
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.815	T=0.185
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.597	T=0.403
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.509	T=0.491
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.409	T=0.591
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.702	T=0.298
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.319	T=0.681
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.85	T=0.15
HapMap	Global	Study-wide	1864	C=0.6153	T=0.3847
HapMap	American	Sub	762	C=0.568	T=0.432
HapMap	African	Sub	676	C=0.633	T=0.367
HapMap	Asian	Sub	250	C=0.816	T=0.184
HapMap	Europe	Sub	176	C=0.466	T=0.534
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8248	T=0.1752
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.455	T=0.545
Northern Sweden	ACPOP	Study-wide	600	C=0.452	T=0.548
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.440	T=0.560
A Vietnamese Genetic Variation Database	Global	Study-wide	488	C=0.914	T=0.086
SGDP_PRJ	Global	Study-wide	346	C=0.350	T=0.650
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.378	T=0.622
Qatari	Global	Study-wide	216	C=0.593	T=0.407
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	102	C=0.471	T=0.529
PharmGKB Aggregated	Global	Study-wide	62	C=0.61	T=0.39
PharmGKB Aggregated	PA131294050	Sub	62	C=0.61	T=0.39
Siberian	Global	Study-wide	44	C=0.34	T=0.66
The Danish reference pan genome	Danish	Study-wide	40	C=0.35	T=0.65

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 5	NC_000005.10:g.138466715C>T
GRCh37.p13 chr 5	NC_000005.9:g.137802404C>T
EGR1 RefSeqGene	NG_021374.1:g.6224C>T

Gene: EGR1, early growth response 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EGR1 transcript	NM_001964.3:c.308-42C>T	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 5	NC_000005.10:g.138466715=	NC_000005.10:g.138466715C>T
GRCh37.p13 chr 5	NC_000005.9:g.137802404=	NC_000005.9:g.137802404C>T
EGR1 RefSeqGene	NG_021374.1:g.6224=	NG_021374.1:g.6224C>T
EGR1 transcript	NM_001964.2:c.308-42=	NM_001964.2:c.308-42C>T
EGR1 transcript	NM_001964.3:c.308-42=	NM_001964.3:c.308-42C>T

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#.

146 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss17070275	Feb 28, 2004 (120)
2	SSAHASNP	ss22353488	Apr 05, 2004 (121)
3	ABI	ss44607309	Mar 13, 2006 (126)
4	AFFY	ss66207292	Nov 30, 2006 (127)
5	ILLUMINA	ss66827439	Nov 30, 2006 (127)
6	ILLUMINA	ss66951504	Nov 30, 2006 (127)
7	ILLUMINA	ss67114321	Nov 30, 2006 (127)
8	PERLEGEN	ss68951218	May 17, 2007 (127)
9	PHARMGKB_PHAT	ss69365105	May 17, 2007 (127)
10	ILLUMINA	ss70398758	May 17, 2007 (127)
11	ILLUMINA	ss70540000	May 23, 2008 (130)
12	ILLUMINA	ss71071947	May 17, 2007 (127)
13	ILLUMINA	ss75896805	Dec 06, 2007 (129)
14	AFFY	ss76301690	Dec 08, 2007 (130)
15	KRIBB_YJKIM	ss85133055	Dec 14, 2007 (130)
16	HGSV	ss85598699	Dec 14, 2007 (130)
17	BGI	ss104243922	Dec 01, 2009 (131)
18	1000GENOMES	ss109454218	Jan 24, 2009 (130)
19	ILLUMINA-UK	ss116830456	Feb 14, 2009 (130)
20	ILLUMINA	ss121500201	Dec 01, 2009 (131)
21	ENSEMBL	ss139579285	Dec 01, 2009 (131)
22	ILLUMINA	ss153048354	Dec 01, 2009 (131)
23	ILLUMINA	ss159187064	Dec 01, 2009 (131)
24	ILLUMINA	ss159999784	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss162705531	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss167134251	Jul 04, 2010 (132)
27	ILLUMINA	ss169941932	Jul 04, 2010 (132)
28	ILLUMINA	ss171516484	Jul 04, 2010 (132)
29	AFFY	ss173183415	Jul 04, 2010 (132)
30	BUSHMAN	ss200924217	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss207096990	Jul 04, 2010 (132)
32	1000GENOMES	ss221991928	Jul 14, 2010 (132)
33	1000GENOMES	ss233167699	Jul 14, 2010 (132)
34	1000GENOMES	ss240285045	Jul 15, 2010 (132)
35	ILLUMINA	ss244273897	Jul 04, 2010 (132)
36	BL	ss253840949	May 09, 2011 (134)
37	GMI	ss278499226	May 04, 2012 (137)
38	GMI	ss285271175	Apr 25, 2013 (138)
39	PJP	ss293469860	May 09, 2011 (134)
40	ILLUMINA	ss479581660	May 04, 2012 (137)
41	ILLUMINA	ss479586046	May 04, 2012 (137)
42	ILLUMINA	ss480064916	Sep 08, 2015 (146)
43	ILLUMINA	ss484589587	May 04, 2012 (137)
44	1000GENOMES	ss490911049	May 04, 2012 (137)
45	GSK-GENETICS	ss491272704	May 04, 2012 (137)
46	CLINSEQ_SNP	ss491872953	May 04, 2012 (137)
47	ILLUMINA	ss536718906	Sep 08, 2015 (146)
48	TISHKOFF	ss558742972	Apr 25, 2013 (138)
49	SSMP	ss652643141	Apr 25, 2013 (138)
50	NHLBI-ESP	ss712665719	Apr 25, 2013 (138)
51	ILLUMINA	ss778764840	Sep 08, 2015 (146)
52	ILLUMINA	ss782741577	Sep 08, 2015 (146)
53	ILLUMINA	ss783708527	Sep 08, 2015 (146)
54	ILLUMINA	ss825368153	Apr 01, 2015 (144)
55	ILLUMINA	ss831993518	Sep 08, 2015 (146)
56	ILLUMINA	ss832699553	Jul 13, 2019 (153)
57	ILLUMINA	ss834224630	Sep 08, 2015 (146)
58	EVA-GONL	ss982173760	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1067471278	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1073078280	Aug 21, 2014 (142)
61	1000GENOMES	ss1317411218	Aug 21, 2014 (142)
62	DDI	ss1430517407	Apr 01, 2015 (144)
63	EVA_GENOME_DK	ss1581370007	Apr 01, 2015 (144)
64	EVA_FINRISK	ss1584040984	Apr 01, 2015 (144)
65	EVA_DECODE	ss1591702628	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1614116333	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1657110366	Apr 01, 2015 (144)
68	EVA_EXAC	ss1687965327	Apr 01, 2015 (144)
69	EVA_MGP	ss1711098642	Apr 01, 2015 (144)
70	EVA_SVP	ss1712803759	Apr 01, 2015 (144)
71	ILLUMINA	ss1752550679	Sep 08, 2015 (146)
72	HAMMER_LAB	ss1804102636	Sep 08, 2015 (146)
73	WEILL_CORNELL_DGM	ss1925430453	Feb 12, 2016 (147)
74	GENOMED	ss1970219092	Jul 19, 2016 (147)
75	JJLAB	ss2023321127	Sep 14, 2016 (149)
76	ILLUMINA	ss2094819434	Dec 20, 2016 (150)
77	ILLUMINA	ss2095163571	Dec 20, 2016 (150)
78	USC_VALOUEV	ss2151478460	Dec 20, 2016 (150)
79	HUMAN_LONGEVITY	ss2278562375	Dec 20, 2016 (150)
80	SYSTEMSBIOZJU	ss2626148625	Nov 08, 2017 (151)
81	ILLUMINA	ss2634345612	Nov 08, 2017 (151)
82	GRF	ss2707043417	Nov 08, 2017 (151)
83	GNOMAD	ss2735245827	Nov 08, 2017 (151)
84	GNOMAD	ss2747457069	Nov 08, 2017 (151)
85	GNOMAD	ss2831329198	Nov 08, 2017 (151)
86	SWEGEN	ss2997869727	Nov 08, 2017 (151)
87	BIOINF_KMB_FNS_UNIBA	ss3025443289	Nov 08, 2017 (151)
88	CSHL	ss3346649548	Nov 08, 2017 (151)
89	ILLUMINA	ss3629351200	Oct 12, 2018 (152)
90	ILLUMINA	ss3632269336	Oct 12, 2018 (152)
91	ILLUMINA	ss3633391384	Oct 12, 2018 (152)
92	ILLUMINA	ss3634112640	Oct 12, 2018 (152)
93	ILLUMINA	ss3635023902	Oct 12, 2018 (152)
94	ILLUMINA	ss3635794350	Oct 12, 2018 (152)
95	ILLUMINA	ss3636737555	Oct 12, 2018 (152)
96	ILLUMINA	ss3637546994	Oct 12, 2018 (152)
97	ILLUMINA	ss3638583104	Oct 12, 2018 (152)
98	ILLUMINA	ss3639294196	Oct 12, 2018 (152)
99	ILLUMINA	ss3639671359	Oct 12, 2018 (152)
100	ILLUMINA	ss3640731197	Oct 12, 2018 (152)
101	ILLUMINA	ss3643526874	Oct 12, 2018 (152)
102	URBANLAB	ss3648179791	Oct 12, 2018 (152)
103	ILLUMINA	ss3653035826	Oct 12, 2018 (152)
104	EGCUT_WGS	ss3665785483	Jul 13, 2019 (153)
105	EVA_DECODE	ss3715794101	Jul 13, 2019 (153)
106	ACPOP	ss3732858284	Jul 13, 2019 (153)
107	ILLUMINA	ss3745324089	Jul 13, 2019 (153)
108	EVA	ss3764121180	Jul 13, 2019 (153)
109	ILLUMINA	ss3772818100	Jul 13, 2019 (153)
110	PACBIO	ss3785263158	Jul 13, 2019 (153)
111	PACBIO	ss3790644588	Jul 13, 2019 (153)
112	PACBIO	ss3795521544	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3807293250	Jul 13, 2019 (153)
114	EVA	ss3824114837	Apr 26, 2020 (154)
115	EVA	ss3829528238	Apr 26, 2020 (154)
116	EVA	ss3838238827	Apr 26, 2020 (154)
117	EVA	ss3843681602	Apr 26, 2020 (154)
118	HGDP	ss3847808479	Apr 26, 2020 (154)
119	SGDP_PRJ	ss3863075934	Apr 26, 2020 (154)
120	KRGDB	ss3909728140	Apr 26, 2020 (154)
121	KOGIC	ss3957737395	Apr 26, 2020 (154)
122	FSA-LAB	ss3984316797	Apr 26, 2021 (155)
123	FSA-LAB	ss3984316798	Apr 26, 2021 (155)
124	EVA	ss3985173025	Apr 26, 2021 (155)
125	EVA	ss4017233552	Apr 26, 2021 (155)
126	TOPMED	ss4680411695	Apr 26, 2021 (155)
127	TOMMO_GENOMICS	ss5174357873	Apr 26, 2021 (155)
128	1000G_HIGH_COVERAGE	ss5266012912	Oct 13, 2022 (156)
129	EVA	ss5315089389	Oct 13, 2022 (156)
130	EVA	ss5361278044	Oct 13, 2022 (156)
131	HUGCELL_USP	ss5463962502	Oct 13, 2022 (156)
132	EVA	ss5508232469	Oct 13, 2022 (156)
133	1000G_HIGH_COVERAGE	ss5550749289	Oct 13, 2022 (156)
134	EVA	ss5623933270	Oct 13, 2022 (156)
135	SANFORD_IMAGENETICS	ss5638978785	Oct 13, 2022 (156)
136	TOMMO_GENOMICS	ss5711498818	Oct 13, 2022 (156)
137	EVA	ss5799663456	Oct 13, 2022 (156)
138	EVA	ss5800124185	Oct 13, 2022 (156)
139	YY_MCH	ss5806806407	Oct 13, 2022 (156)
140	EVA	ss5835707805	Oct 13, 2022 (156)
141	EVA	ss5855037049	Oct 13, 2022 (156)
142	EVA	ss5896518718	Oct 13, 2022 (156)
143	EVA	ss5936528051	Oct 13, 2022 (156)
144	EVA	ss5967450940	Oct 13, 2022 (156)
145	EVA	ss5980319165	Oct 13, 2022 (156)
146	EVA	ss5981230513	Oct 13, 2022 (156)
147	1000Genomes	NC_000005.9 - 137802404	Oct 12, 2018 (152)
148	1000Genomes_30x	NC_000005.10 - 138466715	Oct 13, 2022 (156)
149	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 137802404	Oct 12, 2018 (152)
150	Genetic variation in the Estonian population	NC_000005.9 - 137802404	Oct 12, 2018 (152)
151	ExAC	NC_000005.9 - 137802404	Oct 12, 2018 (152)
152	FINRISK	NC_000005.9 - 137802404	Apr 26, 2020 (154)
153	The Danish reference pan genome	NC_000005.9 - 137802404	Apr 26, 2020 (154)
154	gnomAD - Genomes	NC_000005.10 - 138466715	Apr 26, 2021 (155)
155	gnomAD - Exomes	NC_000005.9 - 137802404	Jul 13, 2019 (153)
156	GO Exome Sequencing Project	NC_000005.9 - 137802404	Oct 12, 2018 (152)
157	Genome of the Netherlands Release 5	NC_000005.9 - 137802404	Apr 26, 2020 (154)
158	HGDP-CEPH-db Supplement 1	NC_000005.8 - 137830303	Apr 26, 2020 (154)
159	HapMap	NC_000005.10 - 138466715	Apr 26, 2020 (154)
160	KOREAN population from KRGDB	NC_000005.9 - 137802404	Apr 26, 2020 (154)
161	Korean Genome Project	NC_000005.10 - 138466715	Apr 26, 2020 (154)
162	Medical Genome Project healthy controls from Spanish population	NC_000005.9 - 137802404	Apr 26, 2020 (154)
163	Northern Sweden	NC_000005.9 - 137802404	Jul 13, 2019 (153)
164	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 137802404	Apr 26, 2021 (155)
165	PharmGKB Aggregated	NC_000005.10 - 138466715	Apr 26, 2020 (154)
166	Qatari	NC_000005.9 - 137802404	Apr 26, 2020 (154)
167	SGDP_PRJ	NC_000005.9 - 137802404	Apr 26, 2020 (154)
168	Siberian	NC_000005.9 - 137802404	Apr 26, 2020 (154)
169	8.3KJPN	NC_000005.9 - 137802404	Apr 26, 2021 (155)
170	14KJPN	NC_000005.10 - 138466715	Oct 13, 2022 (156)
171	TopMed	NC_000005.10 - 138466715	Apr 26, 2021 (155)
172	UK 10K study - Twins	NC_000005.9 - 137802404	Oct 12, 2018 (152)
173	A Vietnamese Genetic Variation Database	NC_000005.9 - 137802404	Jul 13, 2019 (153)
174	ALFA	NC_000005.10 - 138466715	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)
rs56482625	May 23, 2008 (130)
rs57034565	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
486371, ss85598699, ss109454218, ss116830456, ss162705531, ss167134251, ss200924217, ss207096990, ss253840949, ss278499226, ss285271175, ss293469860, ss479581660, ss491272704, ss491872953, ss825368153, ss1591702628, ss1712803759, ss3639294196, ss3639671359, ss3643526874, ss3847808479	NC_000005.8:137830302:C:T	NC_000005.10:138466714:C:T	(self)
29096548, 16185573, 11523731, 7969842, 37445, 7534946, 4370087, 572934, 7191485, 16905534, 214402, 6143149, 398952, 7472383, 15092914, 3994814, 32327180, 16185573, 3588807, ss221991928, ss233167699, ss240285045, ss479586046, ss480064916, ss484589587, ss490911049, ss536718906, ss558742972, ss652643141, ss712665719, ss778764840, ss782741577, ss783708527, ss831993518, ss832699553, ss834224630, ss982173760, ss1067471278, ss1073078280, ss1317411218, ss1430517407, ss1581370007, ss1584040984, ss1614116333, ss1657110366, ss1687965327, ss1711098642, ss1752550679, ss1804102636, ss1925430453, ss1970219092, ss2023321127, ss2094819434, ss2095163571, ss2151478460, ss2626148625, ss2634345612, ss2707043417, ss2735245827, ss2747457069, ss2831329198, ss2997869727, ss3346649548, ss3629351200, ss3632269336, ss3633391384, ss3634112640, ss3635023902, ss3635794350, ss3636737555, ss3637546994, ss3638583104, ss3640731197, ss3653035826, ss3665785483, ss3732858284, ss3745324089, ss3764121180, ss3772818100, ss3785263158, ss3790644588, ss3795521544, ss3824114837, ss3829528238, ss3838238827, ss3863075934, ss3909728140, ss3984316797, ss3984316798, ss3985173025, ss4017233552, ss5174357873, ss5315089389, ss5361278044, ss5508232469, ss5623933270, ss5638978785, ss5799663456, ss5800124185, ss5835707805, ss5936528051, ss5967450940, ss5980319165, ss5981230513	NC_000005.9:137802403:C:T	NC_000005.10:138466714:C:T	(self)
38275224, 205792416, 2977949, 14115396, 10342, 45335922, 517789252, 6213263293, ss2278562375, ss3025443289, ss3648179791, ss3715794101, ss3807293250, ss3843681602, ss3957737395, ss4680411695, ss5266012912, ss5463962502, ss5550749289, ss5711498818, ss5806806407, ss5855037049, ss5896518718	NC_000005.10:138466714:C:T	NC_000005.10:138466714:C:T	(self)
ss17070275, ss22353488	NT_034772.5:40217416:C:T	NC_000005.10:138466714:C:T	(self)
ss44607309, ss66207292, ss66827439, ss66951504, ss67114321, ss68951218, ss69365105, ss70398758, ss70540000, ss71071947, ss75896805, ss76301690, ss85133055, ss104243922, ss121500201, ss139579285, ss153048354, ss159187064, ss159999784, ss169941932, ss171516484, ss173183415, ss244273897	NT_034772.6:46116275:C:T	NC_000005.10:138466714:C:T	(self)

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

3 citations for rs11743810

PMID	Title	Author	Year	Journal
22370066	Family-based association study of early growth response gene 3 with child bipolar I disorder.	Gallitano AL et al.	2012	Journal of affective disorders
26984843	Controversial opinion: evaluation of EGR1 and LAMA2 loci for high myopia in Chinese populations.	Lin FY et al.	2016	Journal of Zhejiang University. Science. B
30952071	Functional analyses and effect of DNA methylation on the EGR1 gene in patients with schizophrenia.	Hu TM et al.	2019	Psychiatry research

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11743810