Name: rs2187971
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.

rs2187971

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:26333407 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.447675 (118495/264690, TOPMED)
T=0.378915 (80774/213172, ALFA)
T=0.381922 (78323/205076, GENOGRAPHIC) (+ 20 more)
T=0.448984 (62856/139996, GnomAD)
C=0.42331 (11962/28258, 14KJPN)
C=0.42619 (7143/16760, 8.3KJPN)
C=0.4438 (2842/6404, 1000G_30x)
C=0.4393 (2200/5008, 1000G)
T=0.3578 (1603/4480, Estonian)
T=0.3487 (1344/3854, ALSPAC)
T=0.3716 (1378/3708, TWINSUK)
C=0.4016 (1176/2928, KOREAN)
C=0.4899 (1021/2084, HGDP_Stanford)
C=0.4453 (839/1884, HapMap)
C=0.4001 (733/1832, Korea1K)
T=0.338 (337/998, GoNL)
C=0.495 (297/600, NorthernSweden)
C=0.295 (119/404, SGDP_PRJ)
T=0.458 (99/216, Qatari)
C=0.324 (68/210, Vietnamese)
T=0.18 (12/66, Ancient Sardinia)
T=0.28 (11/40, GENOME_DK)
C=0.36 (10/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEZ6L : 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	213172	C=0.621085	G=0.000000, T=0.378915
European	Sub	186236	C=0.636359	G=0.000000, T=0.363641
African	Sub	6612	C=0.4242	G=0.0000, T=0.5758
African Others	Sub	246	C=0.423	G=0.000, T=0.577
African American	Sub	6366	C=0.4243	G=0.0000, T=0.5757
Asian	Sub	744	C=0.394	G=0.000, T=0.606
East Asian	Sub	598	C=0.396	G=0.000, T=0.604
Other Asian	Sub	146	C=0.384	G=0.000, T=0.616
Latin American 1	Sub	840	C=0.551	G=0.000, T=0.449
Latin American 2	Sub	6882	C=0.6427	G=0.0000, T=0.3573
South Asian	Sub	5042	C=0.3631	G=0.0000, T=0.6369
Other	Sub	6816	C=0.5971	G=0.0000, T=0.4029

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=0.552325	T=0.447675
Allele Frequency Aggregator	Total	Global	213172	C=0.621085	G=0.000000, T=0.378915
Allele Frequency Aggregator	European	Sub	186236	C=0.636359	G=0.000000, T=0.363641
Allele Frequency Aggregator	Latin American 2	Sub	6882	C=0.6427	G=0.0000, T=0.3573
Allele Frequency Aggregator	Other	Sub	6816	C=0.5971	G=0.0000, T=0.4029
Allele Frequency Aggregator	African	Sub	6612	C=0.4242	G=0.0000, T=0.5758
Allele Frequency Aggregator	South Asian	Sub	5042	C=0.3631	G=0.0000, T=0.6369
Allele Frequency Aggregator	Latin American 1	Sub	840	C=0.551	G=0.000, T=0.449
Allele Frequency Aggregator	Asian	Sub	744	C=0.394	G=0.000, T=0.606
Genographic Project	Global	Study-wide	205076	C=0.618078	G=0.000000, T=0.381922
gnomAD - Genomes	Global	Study-wide	139996	C=0.551016	T=0.448984
gnomAD - Genomes	European	Sub	75812	C=0.61861	T=0.38139
gnomAD - Genomes	African	Sub	41926	C=0.41592	T=0.58408
gnomAD - Genomes	American	Sub	13656	C=0.61204	T=0.38796
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.6026	T=0.3974
gnomAD - Genomes	East Asian	Sub	3126	C=0.3935	T=0.6065
gnomAD - Genomes	Other	Sub	2152	C=0.5637	T=0.4363
14KJPN	JAPANESE	Study-wide	28258	C=0.42331	T=0.57669
8.3KJPN	JAPANESE	Study-wide	16760	C=0.42619	T=0.57381
1000Genomes_30x	Global	Study-wide	6404	C=0.4438	T=0.5562
1000Genomes_30x	African	Sub	1786	C=0.3712	T=0.6288
1000Genomes_30x	Europe	Sub	1266	C=0.5916	T=0.4084
1000Genomes_30x	South Asian	Sub	1202	C=0.3453	T=0.6547
1000Genomes_30x	East Asian	Sub	1170	C=0.3650	T=0.6350
1000Genomes_30x	American	Sub	980	C=0.600	T=0.400
1000Genomes	Global	Study-wide	5008	C=0.4393	T=0.5607
1000Genomes	African	Sub	1322	C=0.3631	T=0.6369
1000Genomes	East Asian	Sub	1008	C=0.3690	T=0.6310
1000Genomes	Europe	Sub	1006	C=0.5915	T=0.4085
1000Genomes	South Asian	Sub	978	C=0.349	T=0.651
1000Genomes	American	Sub	694	C=0.594	T=0.406
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6422	T=0.3578
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6513	T=0.3487
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6284	T=0.3716
KOREAN population from KRGDB	KOREAN	Study-wide	2928	C=0.4016	T=0.5984
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.4899	T=0.5101
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.417	T=0.583
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.408	T=0.592
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.560	T=0.440
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.637	T=0.362
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.289	T=0.711
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.648	T=0.352
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.64	T=0.36
HapMap	Global	Study-wide	1884	C=0.4453	T=0.5547
HapMap	American	Sub	766	C=0.493	T=0.507
HapMap	African	Sub	690	C=0.359	T=0.641
HapMap	Asian	Sub	252	C=0.393	T=0.607
HapMap	Europe	Sub	176	C=0.648	T=0.352
Korean Genome Project	KOREAN	Study-wide	1832	C=0.4001	T=0.5999
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.662	T=0.338
Northern Sweden	ACPOP	Study-wide	600	C=0.495	T=0.505
SGDP_PRJ	Global	Study-wide	404	C=0.295	T=0.705
Qatari	Global	Study-wide	216	C=0.542	T=0.458
A Vietnamese Genetic Variation Database	Global	Study-wide	210	C=0.324	T=0.676
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	66	C=0.82	T=0.18
The Danish reference pan genome	Danish	Study-wide	40	C=0.72	T=0.28
Siberian	Global	Study-wide	28	C=0.36	T=0.64

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 22	NC_000022.11:g.26333407C>G
GRCh38.p14 chr 22	NC_000022.11:g.26333407C>T
GRCh37.p13 chr 22	NC_000022.10:g.26729373C>G
GRCh37.p13 chr 22	NC_000022.10:g.26729373C>T
SEZ6L RefSeqGene	NG_054877.1:g.168934C>G
SEZ6L RefSeqGene	NG_054877.1:g.168934C>T

Gene: SEZ6L, seizure related 6 homolog like (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEZ6L transcript variant 2	NM_001184773.2:c.2016-702… NM_001184773.2:c.2016-7029C>G	N/A	Intron Variant
SEZ6L transcript variant 3	NM_001184774.2:c.2016-702… NM_001184774.2:c.2016-7029C>G	N/A	Intron Variant
SEZ6L transcript variant 4	NM_001184775.2:c.2016-702… NM_001184775.2:c.2016-7029C>G	N/A	Intron Variant
SEZ6L transcript variant 5	NM_001184776.2:c.2016-702… NM_001184776.2:c.2016-7029C>G	N/A	Intron Variant
SEZ6L transcript variant 6	NM_001184777.2:c.2016-702… NM_001184777.2:c.2016-7029C>G	N/A	Intron Variant
SEZ6L transcript variant 1	NM_021115.5:c.2016-7029C>G	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=	G	T
GRCh38.p14 chr 22	NC_000022.11:g.26333407=	NC_000022.11:g.26333407C>G	NC_000022.11:g.26333407C>T
GRCh37.p13 chr 22	NC_000022.10:g.26729373=	NC_000022.10:g.26729373C>G	NC_000022.10:g.26729373C>T
SEZ6L RefSeqGene	NG_054877.1:g.168934=	NG_054877.1:g.168934C>G	NG_054877.1:g.168934C>T
SEZ6L transcript variant 2	NM_001184773.1:c.2016-7029=	NM_001184773.1:c.2016-7029C>G	NM_001184773.1:c.2016-7029C>T
SEZ6L transcript variant 2	NM_001184773.2:c.2016-7029=	NM_001184773.2:c.2016-7029C>G	NM_001184773.2:c.2016-7029C>T
SEZ6L transcript variant 3	NM_001184774.1:c.2016-7029=	NM_001184774.1:c.2016-7029C>G	NM_001184774.1:c.2016-7029C>T
SEZ6L transcript variant 3	NM_001184774.2:c.2016-7029=	NM_001184774.2:c.2016-7029C>G	NM_001184774.2:c.2016-7029C>T
SEZ6L transcript variant 4	NM_001184775.1:c.2016-7029=	NM_001184775.1:c.2016-7029C>G	NM_001184775.1:c.2016-7029C>T
SEZ6L transcript variant 4	NM_001184775.2:c.2016-7029=	NM_001184775.2:c.2016-7029C>G	NM_001184775.2:c.2016-7029C>T
SEZ6L transcript variant 5	NM_001184776.1:c.2016-7029=	NM_001184776.1:c.2016-7029C>G	NM_001184776.1:c.2016-7029C>T
SEZ6L transcript variant 5	NM_001184776.2:c.2016-7029=	NM_001184776.2:c.2016-7029C>G	NM_001184776.2:c.2016-7029C>T
SEZ6L transcript variant 6	NM_001184777.1:c.2016-7029=	NM_001184777.1:c.2016-7029C>G	NM_001184777.1:c.2016-7029C>T
SEZ6L transcript variant 6	NM_001184777.2:c.2016-7029=	NM_001184777.2:c.2016-7029C>G	NM_001184777.2:c.2016-7029C>T
SEZ6L transcript variant 1	NM_021115.4:c.2016-7029=	NM_021115.4:c.2016-7029C>G	NM_021115.4:c.2016-7029C>T
SEZ6L transcript variant 1	NM_021115.5:c.2016-7029=	NM_021115.5:c.2016-7029C>G	NM_021115.5:c.2016-7029C>T
SEZ6L transcript variant X1	XM_005261439.1:c.2016-7029=	XM_005261439.1:c.2016-7029C>G	XM_005261439.1:c.2016-7029C>T
SEZ6L transcript variant X2	XM_005261440.1:c.2016-7029=	XM_005261440.1:c.2016-7029C>G	XM_005261440.1:c.2016-7029C>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#.

119 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3126871	Jun 15, 2001 (96)
2	SC_SNP	ss8014995	Apr 21, 2003 (123)
3	PERLEGEN	ss23561361	Sep 20, 2004 (123)
4	ABI	ss35031519	May 24, 2005 (125)
5	ILLUMINA	ss66676355	Nov 30, 2006 (127)
6	ILLUMINA	ss67231934	Nov 30, 2006 (127)
7	ILLUMINA	ss67627551	Nov 30, 2006 (127)
8	PERLEGEN	ss69275742	May 17, 2007 (127)
9	ILLUMINA	ss70710260	May 24, 2008 (130)
10	ILLUMINA	ss71277466	May 17, 2007 (127)
11	ILLUMINA	ss75578847	Dec 07, 2007 (129)
12	ILLUMINA	ss79119202	Dec 14, 2007 (130)
13	HGSV	ss83355375	Dec 14, 2007 (130)
14	KRIBB_YJKIM	ss83991957	Dec 14, 2007 (130)
15	BGI	ss106222018	Feb 04, 2009 (130)
16	1000GENOMES	ss112585613	Jan 25, 2009 (130)
17	1000GENOMES	ss114100089	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss117378740	Feb 14, 2009 (130)
19	ILLUMINA	ss121942519	Dec 01, 2009 (131)
20	ILLUMINA	ss153876777	Dec 01, 2009 (131)
21	GMI	ss157092064	Dec 01, 2009 (131)
22	ILLUMINA	ss159366328	Dec 01, 2009 (131)
23	ILLUMINA	ss160512237	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss167780787	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss169025454	Jul 04, 2010 (132)
26	ILLUMINA	ss171075130	Jul 04, 2010 (132)
27	ILLUMINA	ss173167192	Jul 04, 2010 (132)
28	BUSHMAN	ss204065841	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss208836233	Jul 04, 2010 (132)
30	1000GENOMES	ss228642441	Jul 14, 2010 (132)
31	1000GENOMES	ss238040184	Jul 15, 2010 (132)
32	1000GENOMES	ss244166098	Jul 15, 2010 (132)
33	ILLUMINA	ss244287600	Jul 04, 2010 (132)
34	BL	ss255867116	May 09, 2011 (134)
35	GMI	ss283608702	May 04, 2012 (137)
36	ILLUMINA	ss480455846	May 04, 2012 (137)
37	ILLUMINA	ss480469938	May 04, 2012 (137)
38	ILLUMINA	ss481263268	Sep 08, 2015 (146)
39	ILLUMINA	ss485025408	May 04, 2012 (137)
40	ILLUMINA	ss537051364	Sep 08, 2015 (146)
41	TISHKOFF	ss566591728	Apr 25, 2013 (138)
42	SSMP	ss662521647	Apr 25, 2013 (138)
43	ILLUMINA	ss778858000	Sep 08, 2015 (146)
44	ILLUMINA	ss782958987	Sep 08, 2015 (146)
45	ILLUMINA	ss783921103	Sep 08, 2015 (146)
46	ILLUMINA	ss825449720	Apr 01, 2015 (144)
47	ILLUMINA	ss832215138	Sep 08, 2015 (146)
48	ILLUMINA	ss832878182	Jul 13, 2019 (153)
49	ILLUMINA	ss834318743	Sep 08, 2015 (146)
50	EVA-GONL	ss995273682	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1082604041	Aug 21, 2014 (142)
52	1000GENOMES	ss1366879905	Aug 21, 2014 (142)
53	DDI	ss1429235953	Apr 01, 2015 (144)
54	EVA_GENOME_DK	ss1579722807	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1639841781	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1682835814	Apr 01, 2015 (144)
57	EVA_DECODE	ss1699342238	Apr 01, 2015 (144)
58	EVA_SVP	ss1713734934	Apr 01, 2015 (144)
59	ILLUMINA	ss1752416534	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1809756952	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1938840849	Feb 12, 2016 (147)
62	GENOMED	ss1969257224	Jul 19, 2016 (147)
63	JJLAB	ss2030191899	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2158806093	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2246745500	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2629594496	Nov 08, 2017 (151)
67	ILLUMINA	ss2633868205	Nov 08, 2017 (151)
68	GRF	ss2704556049	Nov 08, 2017 (151)
69	ILLUMINA	ss2710953878	Nov 08, 2017 (151)
70	GNOMAD	ss2973573306	Nov 08, 2017 (151)
71	SWEGEN	ss3019184139	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3028933177	Nov 08, 2017 (151)
73	CSHL	ss3352803017	Nov 08, 2017 (151)
74	ILLUMINA	ss3628516227	Oct 12, 2018 (152)
75	ILLUMINA	ss3631820046	Oct 12, 2018 (152)
76	ILLUMINA	ss3633985947	Oct 12, 2018 (152)
77	ILLUMINA	ss3634863531	Oct 12, 2018 (152)
78	ILLUMINA	ss3635670457	Oct 12, 2018 (152)
79	ILLUMINA	ss3636559364	Oct 12, 2018 (152)
80	ILLUMINA	ss3637422688	Oct 12, 2018 (152)
81	ILLUMINA	ss3638377770	Oct 12, 2018 (152)
82	ILLUMINA	ss3639192543	Oct 12, 2018 (152)
83	ILLUMINA	ss3639612534	Oct 12, 2018 (152)
84	ILLUMINA	ss3640570833	Oct 12, 2018 (152)
85	ILLUMINA	ss3643337914	Oct 12, 2018 (152)
86	EGCUT_WGS	ss3685680047	Jul 13, 2019 (153)
87	EVA_DECODE	ss3708051134	Jul 13, 2019 (153)
88	ACPOP	ss3743867602	Jul 13, 2019 (153)
89	ILLUMINA	ss3745163350	Jul 13, 2019 (153)
90	EVA	ss3759292034	Jul 13, 2019 (153)
91	ILLUMINA	ss3772659332	Jul 13, 2019 (153)
92	PACBIO	ss3788808112	Jul 13, 2019 (153)
93	PACBIO	ss3793677113	Jul 13, 2019 (153)
94	PACBIO	ss3798563527	Jul 13, 2019 (153)
95	KHV_HUMAN_GENOMES	ss3822459131	Jul 13, 2019 (153)
96	EVA	ss3835952615	Apr 27, 2020 (154)
97	EVA	ss3841605057	Apr 27, 2020 (154)
98	EVA	ss3847119735	Apr 27, 2020 (154)
99	HGDP	ss3847686373	Apr 27, 2020 (154)
100	SGDP_PRJ	ss3890393249	Apr 27, 2020 (154)
101	KRGDB	ss3940788758	Apr 27, 2020 (154)
102	KOGIC	ss3983490667	Apr 27, 2020 (154)
103	EVA	ss3985912852	Apr 27, 2021 (155)
104	TOPMED	ss5106688105	Apr 27, 2021 (155)
105	TOMMO_GENOMICS	ss5232292189	Apr 27, 2021 (155)
106	1000G_HIGH_COVERAGE	ss5310847082	Oct 16, 2022 (156)
107	GENOGRAPHIC	ss5314584375	Oct 16, 2022 (156)
108	EVA	ss5316050322	Oct 16, 2022 (156)
109	EVA	ss5440842977	Oct 16, 2022 (156)
110	HUGCELL_USP	ss5502711730	Oct 16, 2022 (156)
111	1000G_HIGH_COVERAGE	ss5618286136	Oct 16, 2022 (156)
112	SANFORD_IMAGENETICS	ss5664353781	Oct 16, 2022 (156)
113	TOMMO_GENOMICS	ss5793307045	Oct 16, 2022 (156)
114	EVA	ss5800038740	Oct 16, 2022 (156)
115	YY_MCH	ss5818648263	Oct 16, 2022 (156)
116	EVA	ss5821971198	Oct 16, 2022 (156)
117	EVA	ss5853366097	Oct 16, 2022 (156)
118	EVA	ss5881533062	Oct 16, 2022 (156)
119	EVA	ss5959202653	Oct 16, 2022 (156)
120	1000Genomes	NC_000022.10 - 26729373	Oct 12, 2018 (152)
121	1000Genomes_30x	NC_000022.11 - 26333407	Oct 16, 2022 (156)
122	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 26729373	Oct 12, 2018 (152)
123	Genetic variation in the Estonian population	NC_000022.10 - 26729373	Oct 12, 2018 (152)
124	Genographic Project	NC_000022.11 - 26333407	Oct 16, 2022 (156)
125	The Danish reference pan genome	NC_000022.10 - 26729373	Apr 27, 2020 (154)
126	gnomAD - Genomes	NC_000022.11 - 26333407	Apr 27, 2021 (155)
127	Genome of the Netherlands Release 5	NC_000022.10 - 26729373	Apr 27, 2020 (154)
128	HGDP-CEPH-db Supplement 1	NC_000022.9 - 25059373	Apr 27, 2020 (154)
129	HapMap	NC_000022.11 - 26333407	Apr 27, 2020 (154)
130	KOREAN population from KRGDB	NC_000022.10 - 26729373	Apr 27, 2020 (154)
131	Korean Genome Project	NC_000022.11 - 26333407	Apr 27, 2020 (154)
132	Northern Sweden	NC_000022.10 - 26729373	Jul 13, 2019 (153)
133	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000022.10 - 26729373	Apr 27, 2021 (155)
134	Qatari	NC_000022.10 - 26729373	Apr 27, 2020 (154)
135	SGDP_PRJ	NC_000022.10 - 26729373	Apr 27, 2020 (154)
136	Siberian	NC_000022.10 - 26729373	Apr 27, 2020 (154)
137	8.3KJPN	NC_000022.10 - 26729373	Apr 27, 2021 (155)
138	14KJPN	NC_000022.11 - 26333407	Oct 16, 2022 (156)
139	TopMed	NC_000022.11 - 26333407	Apr 27, 2021 (155)
140	UK 10K study - Twins	NC_000022.10 - 26729373	Oct 12, 2018 (152)
141	A Vietnamese Genetic Variation Database	NC_000022.10 - 26729373	Jul 13, 2019 (153)
142	ALFA	NC_000022.11 - 26333407	Apr 27, 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)
rs5761479	Sep 24, 2004 (123)
rs16981768	Oct 07, 2004 (123)
rs57968100	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
29182, 1372032150, ss5314584375	NC_000022.11:26333406:C:G	NC_000022.11:26333406:C:G	(self)
ss83355375, ss3639192543, ss3639612534	NC_000022.8:25053926:C:T	NC_000022.11:26333406:C:T	(self)
364265, ss112585613, ss114100089, ss117378740, ss167780787, ss169025454, ss204065841, ss208836233, ss255867116, ss283608702, ss480455846, ss825449720, ss1699342238, ss1713734934, ss3643337914, ss3847686373	NC_000022.9:25059372:C:T	NC_000022.11:26333406:C:T	(self)
80421458, 44479818, 31418295, 5887746, 19821004, 47966152, 17152467, 1138779, 20882771, 42410229, 11322447, 90261496, 44479818, 9814971, ss228642441, ss238040184, ss244166098, ss480469938, ss481263268, ss485025408, ss537051364, ss566591728, ss662521647, ss778858000, ss782958987, ss783921103, ss832215138, ss832878182, ss834318743, ss995273682, ss1082604041, ss1366879905, ss1429235953, ss1579722807, ss1639841781, ss1682835814, ss1752416534, ss1809756952, ss1938840849, ss1969257224, ss2030191899, ss2158806093, ss2629594496, ss2633868205, ss2704556049, ss2710953878, ss2973573306, ss3019184139, ss3352803017, ss3628516227, ss3631820046, ss3633985947, ss3634863531, ss3635670457, ss3636559364, ss3637422688, ss3638377770, ss3640570833, ss3685680047, ss3743867602, ss3745163350, ss3759292034, ss3772659332, ss3788808112, ss3793677113, ss3798563527, ss3835952615, ss3841605057, ss3890393249, ss3940788758, ss3985912852, ss5232292189, ss5316050322, ss5440842977, ss5664353781, ss5800038740, ss5821971198, ss5959202653	NC_000022.10:26729372:C:T	NC_000022.11:26333406:C:T	(self)
105812071, 29182, 567896400, 2237740, 39868668, 127144149, 381797052, 1372032150, ss2246745500, ss3028933177, ss3708051134, ss3822459131, ss3847119735, ss3983490667, ss5106688105, ss5310847082, ss5314584375, ss5502711730, ss5618286136, ss5793307045, ss5818648263, ss5853366097, ss5881533062	NC_000022.11:26333406:C:T	NC_000022.11:26333406:C:T	(self)
ss3126871, ss8014995, ss23561361, ss35031519, ss66676355, ss67231934, ss67627551, ss69275742, ss70710260, ss71277466, ss75578847, ss79119202, ss83991957, ss106222018, ss121942519, ss153876777, ss157092064, ss159366328, ss160512237, ss171075130, ss173167192, ss244287600	NT_011520.12:6119941:C:T	NC_000022.11:26333406: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 rs2187971

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

rs2187971