Name: rs2207723
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.

rs2207723

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:187097273 (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: C=0.376467 (99647/264690, TOPMED)
C=0.372340 (52074/139856, GnomAD)
T=0.42649 (12051/28256, 14KJPN) (+ 17 more)
C=0.37701 (9031/23954, ALFA)
T=0.43228 (7245/16760, 8.3KJPN)
C=0.3979 (2548/6404, 1000G_30x)
C=0.4044 (2025/5008, 1000G)
C=0.3614 (1619/4480, Estonian)
C=0.4294 (1655/3854, ALSPAC)
C=0.4285 (1589/3708, TWINSUK)
T=0.3669 (1075/2930, KOREAN)
C=0.3899 (737/1890, HapMap)
T=0.3816 (699/1832, Korea1K)
C=0.450 (449/998, GoNL)
C=0.408 (245/600, NorthernSweden)
C=0.262 (112/428, SGDP_PRJ)
C=0.375 (81/216, Qatari)
T=0.417 (90/216, Vietnamese)
C=0.31 (13/42, Siberian)
C=0.45 (18/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LINC01036 : Intron Variant
Publications: 0 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	23954	C=0.37701	T=0.62299
European	Sub	15668	C=0.39156	T=0.60844
African	Sub	3624	C=0.2966	T=0.7034
African Others	Sub	126	C=0.278	T=0.722
African American	Sub	3498	C=0.2973	T=0.7027
Asian	Sub	160	C=0.656	T=0.344
East Asian	Sub	102	C=0.667	T=0.333
Other Asian	Sub	58	C=0.64	T=0.36
Latin American 1	Sub	292	C=0.373	T=0.627
Latin American 2	Sub	2754	C=0.3845	T=0.6155
South Asian	Sub	110	C=0.418	T=0.582
Other	Sub	1346	C=0.3730	T=0.6270

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.376467	T=0.623533
gnomAD - Genomes	Global	Study-wide	139856	C=0.372340	T=0.627660
gnomAD - Genomes	European	Sub	75770	C=0.40388	T=0.59612
gnomAD - Genomes	African	Sub	41888	C=0.29720	T=0.70280
gnomAD - Genomes	American	Sub	13610	C=0.37502	T=0.62498
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.4085	T=0.5915
gnomAD - Genomes	East Asian	Sub	3118	C=0.5590	T=0.4410
gnomAD - Genomes	Other	Sub	2146	C=0.3812	T=0.6188
14KJPN	JAPANESE	Study-wide	28256	C=0.57351	T=0.42649
Allele Frequency Aggregator	Total	Global	23954	C=0.37701	T=0.62299
Allele Frequency Aggregator	European	Sub	15668	C=0.39156	T=0.60844
Allele Frequency Aggregator	African	Sub	3624	C=0.2966	T=0.7034
Allele Frequency Aggregator	Latin American 2	Sub	2754	C=0.3845	T=0.6155
Allele Frequency Aggregator	Other	Sub	1346	C=0.3730	T=0.6270
Allele Frequency Aggregator	Latin American 1	Sub	292	C=0.373	T=0.627
Allele Frequency Aggregator	Asian	Sub	160	C=0.656	T=0.344
Allele Frequency Aggregator	South Asian	Sub	110	C=0.418	T=0.582
8.3KJPN	JAPANESE	Study-wide	16760	C=0.56772	T=0.43228
1000Genomes_30x	Global	Study-wide	6404	C=0.3979	T=0.6021
1000Genomes_30x	African	Sub	1786	C=0.2895	T=0.7105
1000Genomes_30x	Europe	Sub	1266	C=0.3886	T=0.6114
1000Genomes_30x	South Asian	Sub	1202	C=0.4326	T=0.5674
1000Genomes_30x	East Asian	Sub	1170	C=0.5769	T=0.4231
1000Genomes_30x	American	Sub	980	C=0.351	T=0.649
1000Genomes	Global	Study-wide	5008	C=0.4044	T=0.5956
1000Genomes	African	Sub	1322	C=0.2935	T=0.7065
1000Genomes	East Asian	Sub	1008	C=0.5764	T=0.4236
1000Genomes	Europe	Sub	1006	C=0.3917	T=0.6083
1000Genomes	South Asian	Sub	978	C=0.426	T=0.574
1000Genomes	American	Sub	694	C=0.353	T=0.647
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3614	T=0.6386
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4294	T=0.5706
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.4285	T=0.5715
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6331	T=0.3669
HapMap	Global	Study-wide	1890	C=0.3899	T=0.6101
HapMap	American	Sub	768	C=0.431	T=0.569
HapMap	African	Sub	692	C=0.276	T=0.724
HapMap	Asian	Sub	254	C=0.602	T=0.398
HapMap	Europe	Sub	176	C=0.352	T=0.648
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6184	T=0.3816
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.450	T=0.550
Northern Sweden	ACPOP	Study-wide	600	C=0.408	T=0.592
SGDP_PRJ	Global	Study-wide	428	C=0.262	T=0.738
Qatari	Global	Study-wide	216	C=0.375	T=0.625
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.583	T=0.417
Siberian	Global	Study-wide	42	C=0.31	T=0.69
The Danish reference pan genome	Danish	Study-wide	40	C=0.45	T=0.55

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 1	NC_000001.11:g.187097273C>T
GRCh37.p13 chr 1	NC_000001.10:g.187066405C>T

Gene: LINC01036, long intergenic non-protein coding RNA 1036 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LINC01036 transcript	NR_126347.1: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 1	NC_000001.11:g.187097273=	NC_000001.11:g.187097273C>T
GRCh37.p13 chr 1	NC_000001.10:g.187066405=	NC_000001.10:g.187066405C>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#.

72 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3149166	Jun 15, 2001 (96)
2	CSHL-HAPMAP	ss19120707	Feb 27, 2004 (120)
3	ABI	ss44023572	Mar 15, 2006 (126)
4	AFFY	ss76758532	Dec 06, 2007 (129)
5	HGSV	ss84475954	Dec 14, 2007 (130)
6	HUMANGENOME_JCVI	ss99269307	Feb 03, 2009 (130)
7	BGI	ss102804787	Dec 01, 2009 (131)
8	KRIBB_YJKIM	ss104866100	Feb 03, 2009 (130)
9	1000GENOMES	ss111486745	Jan 25, 2009 (130)
10	ILLUMINA-UK	ss119133944	Feb 15, 2009 (130)
11	ENSEMBL	ss139135985	Dec 01, 2009 (131)
12	COMPLETE_GENOMICS	ss164665964	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss167367301	Jul 04, 2010 (132)
14	BUSHMAN	ss199362005	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss205332228	Jul 04, 2010 (132)
16	1000GENOMES	ss218771198	Jul 14, 2010 (132)
17	1000GENOMES	ss230819495	Jul 14, 2010 (132)
18	1000GENOMES	ss238447941	Jul 15, 2010 (132)
19	GMI	ss276135624	May 04, 2012 (137)
20	GMI	ss284190692	Apr 25, 2013 (138)
21	PJP	ss290682036	May 09, 2011 (134)
22	ILLUMINA	ss410920423	Sep 17, 2011 (135)
23	TISHKOFF	ss554955208	Apr 25, 2013 (138)
24	SSMP	ss648561665	Apr 25, 2013 (138)
25	EVA-GONL	ss975917997	Aug 21, 2014 (142)
26	JMKIDD_LAB	ss1068440439	Aug 21, 2014 (142)
27	1000GENOMES	ss1293822476	Aug 21, 2014 (142)
28	DDI	ss1426046808	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1574538535	Apr 01, 2015 (144)
30	EVA_DECODE	ss1585310438	Apr 01, 2015 (144)
31	EVA_UK10K_ALSPAC	ss1601695141	Apr 01, 2015 (144)
32	EVA_UK10K_TWINSUK	ss1644689174	Apr 01, 2015 (144)
33	EVA_SVP	ss1712389185	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1795422620	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1919152290	Feb 12, 2016 (147)
36	GENOMED	ss1966920563	Jul 19, 2016 (147)
37	JJLAB	ss2020092321	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2148120828	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2168379645	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2624553788	Nov 08, 2017 (151)
41	GRF	ss2698105218	Nov 08, 2017 (151)
42	GNOMAD	ss2763857579	Nov 08, 2017 (151)
43	SWEGEN	ss2988111743	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3023805330	Nov 08, 2017 (151)
45	CSHL	ss3343814208	Nov 08, 2017 (151)
46	URBANLAB	ss3646838708	Oct 11, 2018 (152)
47	EGCUT_WGS	ss3656064216	Jul 12, 2019 (153)
48	EVA_DECODE	ss3688217028	Jul 12, 2019 (153)
49	ACPOP	ss3727677891	Jul 12, 2019 (153)
50	EVA	ss3747081834	Jul 12, 2019 (153)
51	PACBIO	ss3783629772	Jul 12, 2019 (153)
52	PACBIO	ss3789250698	Jul 12, 2019 (153)
53	PACBIO	ss3794122834	Jul 12, 2019 (153)
54	KHV_HUMAN_GENOMES	ss3800082667	Jul 12, 2019 (153)
55	EVA	ss3826538586	Apr 25, 2020 (154)
56	EVA	ss3836665878	Apr 25, 2020 (154)
57	EVA	ss3842076326	Apr 25, 2020 (154)
58	SGDP_PRJ	ss3850466397	Apr 25, 2020 (154)
59	KRGDB	ss3895733901	Apr 25, 2020 (154)
60	KOGIC	ss3946091169	Apr 25, 2020 (154)
61	TOPMED	ss4476224654	Apr 25, 2021 (155)
62	TOMMO_GENOMICS	ss5147491463	Apr 25, 2021 (155)
63	1000G_HIGH_COVERAGE	ss5245069183	Oct 12, 2022 (156)
64	HUGCELL_USP	ss5445576447	Oct 12, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5518788499	Oct 12, 2022 (156)
66	SANFORD_IMAGENETICS	ss5627033060	Oct 12, 2022 (156)
67	TOMMO_GENOMICS	ss5674981275	Oct 12, 2022 (156)
68	YY_MCH	ss5801453725	Oct 12, 2022 (156)
69	EVA	ss5832972021	Oct 12, 2022 (156)
70	EVA	ss5849196944	Oct 12, 2022 (156)
71	EVA	ss5911142050	Oct 12, 2022 (156)
72	EVA	ss5938852719	Oct 12, 2022 (156)
73	1000Genomes	NC_000001.10 - 187066405	Oct 11, 2018 (152)
74	1000Genomes_30x	NC_000001.11 - 187097273	Oct 12, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 187066405	Oct 11, 2018 (152)
76	Genetic variation in the Estonian population	NC_000001.10 - 187066405	Oct 11, 2018 (152)
77	The Danish reference pan genome	NC_000001.10 - 187066405	Apr 25, 2020 (154)
78	gnomAD - Genomes	NC_000001.11 - 187097273	Apr 25, 2021 (155)
79	Genome of the Netherlands Release 5	NC_000001.10 - 187066405	Apr 25, 2020 (154)
80	HapMap	NC_000001.11 - 187097273	Apr 25, 2020 (154)
81	KOREAN population from KRGDB	NC_000001.10 - 187066405	Apr 25, 2020 (154)
82	Korean Genome Project	NC_000001.11 - 187097273	Apr 25, 2020 (154)
83	Northern Sweden	NC_000001.10 - 187066405	Jul 12, 2019 (153)
84	Qatari	NC_000001.10 - 187066405	Apr 25, 2020 (154)
85	SGDP_PRJ	NC_000001.10 - 187066405	Apr 25, 2020 (154)
86	Siberian	NC_000001.10 - 187066405	Apr 25, 2020 (154)
87	8.3KJPN	NC_000001.10 - 187066405	Apr 25, 2021 (155)
88	14KJPN	NC_000001.11 - 187097273	Oct 12, 2022 (156)
89	TopMed	NC_000001.11 - 187097273	Apr 25, 2021 (155)
90	UK 10K study - Twins	NC_000001.10 - 187066405	Oct 11, 2018 (152)
91	A Vietnamese Genetic Variation Database	NC_000001.10 - 187066405	Jul 12, 2019 (153)
92	ALFA	NC_000001.11 - 187097273	Apr 25, 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)
rs56784512	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84475954	NC_000001.8:183798061:C:T	NC_000001.11:187097272:C:T	(self)
ss76758532, ss111486745, ss119133944, ss164665964, ss167367301, ss199362005, ss205332228, ss276135624, ss284190692, ss290682036, ss1585310438, ss1712389185	NC_000001.9:185333027:C:T	NC_000001.11:187097272:C:T	(self)
4646215, 2549224, 1802464, 1798389, 1107575, 2911295, 962756, 1194220, 2483377, 637182, 5460770, 2549224, 546578, ss218771198, ss230819495, ss238447941, ss554955208, ss648561665, ss975917997, ss1068440439, ss1293822476, ss1426046808, ss1574538535, ss1601695141, ss1644689174, ss1795422620, ss1919152290, ss1966920563, ss2020092321, ss2148120828, ss2624553788, ss2698105218, ss2763857579, ss2988111743, ss3343814208, ss3656064216, ss3727677891, ss3747081834, ss3783629772, ss3789250698, ss3794122834, ss3826538586, ss3836665878, ss3850466397, ss3895733901, ss5147491463, ss5627033060, ss5832972021, ss5938852719	NC_000001.10:187066404:C:T	NC_000001.11:187097272:C:T	(self)
6314434, 33519766, 223373, 2469170, 8818379, 39830989, 951827017, ss2168379645, ss3023805330, ss3646838708, ss3688217028, ss3800082667, ss3842076326, ss3946091169, ss4476224654, ss5245069183, ss5445576447, ss5518788499, ss5674981275, ss5801453725, ss5849196944, ss5911142050	NC_000001.11:187097272:C:T	NC_000001.11:187097272:C:T	(self)
ss19120707	NT_004487.16:16114512:C:T	NC_000001.11:187097272:C:T	(self)
ss3149166, ss44023572, ss99269307, ss102804787, ss104866100, ss139135985, ss410920423	NT_004487.19:38555046:C:T	NC_000001.11:187097272:C:T	(self)

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

No publications for rs2207723

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

rs2207723