Name: rs12152027
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.

rs12152027

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:23683766 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.218048 (57715/264690, TOPMED)
A=0.243347 (33962/139562, GnomAD)
A=0.06494 (1835/28258, 14KJPN) (+ 16 more)
A=0.29778 (5625/18890, ALFA)
A=0.06229 (1044/16760, 8.3KJPN)
A=0.1563 (1001/6404, 1000G_30x)
A=0.1563 (783/5008, 1000G)
A=0.4092 (1833/4480, Estonian)
A=0.3345 (1289/3854, ALSPAC)
A=0.3501 (1298/3708, TWINSUK)
A=0.0945 (277/2930, KOREAN)
A=0.0983 (180/1832, Korea1K)
A=0.342 (341/998, GoNL)
A=0.348 (209/600, NorthernSweden)
A=0.162 (35/216, Qatari)
A=0.089 (19/214, Vietnamese)
G=0.438 (56/128, SGDP_PRJ)
A=0.35 (14/40, GENOME_DK)
G=0.41 (9/22, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	18890	G=0.70222	A=0.29778
European	Sub	14286	G=0.64028	A=0.35972
African	Sub	2946	G=0.9355	A=0.0645
African Others	Sub	114	G=0.991	A=0.009
African American	Sub	2832	G=0.9333	A=0.0667
Asian	Sub	112	G=0.848	A=0.152
East Asian	Sub	86	G=0.84	A=0.16
Other Asian	Sub	26	G=0.88	A=0.12
Latin American 1	Sub	146	G=0.836	A=0.164
Latin American 2	Sub	610	G=0.839	A=0.161
South Asian	Sub	98	G=0.85	A=0.15
Other	Sub	692	G=0.795	A=0.205

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	G=0.781952	A=0.218048
gnomAD - Genomes	Global	Study-wide	139562	G=0.756653	A=0.243347
gnomAD - Genomes	European	Sub	75600	G=0.64730	A=0.35270
gnomAD - Genomes	African	Sub	41798	G=0.92930	A=0.07070
gnomAD - Genomes	American	Sub	13574	G=0.80220	A=0.19780
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.7347	A=0.2653
gnomAD - Genomes	East Asian	Sub	3118	G=0.9134	A=0.0866
gnomAD - Genomes	Other	Sub	2148	G=0.7644	A=0.2356
14KJPN	JAPANESE	Study-wide	28258	G=0.93506	A=0.06494
Allele Frequency Aggregator	Total	Global	18890	G=0.70222	A=0.29778
Allele Frequency Aggregator	European	Sub	14286	G=0.64028	A=0.35972
Allele Frequency Aggregator	African	Sub	2946	G=0.9355	A=0.0645
Allele Frequency Aggregator	Other	Sub	692	G=0.795	A=0.205
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.839	A=0.161
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.836	A=0.164
Allele Frequency Aggregator	Asian	Sub	112	G=0.848	A=0.152
Allele Frequency Aggregator	South Asian	Sub	98	G=0.85	A=0.15
8.3KJPN	JAPANESE	Study-wide	16760	G=0.93771	A=0.06229
1000Genomes_30x	Global	Study-wide	6404	G=0.8437	A=0.1563
1000Genomes_30x	African	Sub	1786	G=0.9765	A=0.0235
1000Genomes_30x	Europe	Sub	1266	G=0.6311	A=0.3689
1000Genomes_30x	South Asian	Sub	1202	G=0.8311	A=0.1689
1000Genomes_30x	East Asian	Sub	1170	G=0.9111	A=0.0889
1000Genomes_30x	American	Sub	980	G=0.811	A=0.189
1000Genomes	Global	Study-wide	5008	G=0.8437	A=0.1563
1000Genomes	African	Sub	1322	G=0.9758	A=0.0242
1000Genomes	East Asian	Sub	1008	G=0.9107	A=0.0893
1000Genomes	Europe	Sub	1006	G=0.6322	A=0.3678
1000Genomes	South Asian	Sub	978	G=0.830	A=0.170
1000Genomes	American	Sub	694	G=0.820	A=0.180
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.5908	A=0.4092
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.6655	A=0.3345
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.6499	A=0.3501
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.9055	A=0.0945
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9017	A=0.0983
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.658	A=0.342
Northern Sweden	ACPOP	Study-wide	600	G=0.652	A=0.348
Qatari	Global	Study-wide	216	G=0.838	A=0.162
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.911	A=0.089
SGDP_PRJ	Global	Study-wide	128	G=0.438	A=0.562
The Danish reference pan genome	Danish	Study-wide	40	G=0.65	A=0.35
Siberian	Global	Study-wide	22	G=0.41	A=0.59

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 21	NC_000021.9:g.23683766G>A
GRCh37.p13 chr 21	NC_000021.8:g.25056083G>A

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	G=	A
GRCh38.p14 chr 21	NC_000021.9:g.23683766=	NC_000021.9:g.23683766G>A
GRCh37.p13 chr 21	NC_000021.8:g.25056083=	NC_000021.8:g.25056083G>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#.

63 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18309344	Feb 28, 2004 (120)
2	SSAHASNP	ss21804217	Apr 05, 2004 (121)
3	ABI	ss41480877	Mar 13, 2006 (126)
4	HGSV	ss81079795	Dec 15, 2007 (130)
5	HUMANGENOME_JCVI	ss96161140	Feb 05, 2009 (130)
6	ILLUMINA-UK	ss117481271	Dec 01, 2009 (131)
7	ENSEMBL	ss133085835	Dec 01, 2009 (131)
8	ENSEMBL	ss138298573	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss171901900	Jul 04, 2010 (132)
10	1000GENOMES	ss237938051	Jul 15, 2010 (132)
11	1000GENOMES	ss244085972	Jul 15, 2010 (132)
12	BL	ss255880304	May 09, 2011 (134)
13	GMI	ss283499303	May 04, 2012 (137)
14	GMI	ss287510319	Apr 25, 2013 (138)
15	PJP	ss292690502	May 09, 2011 (134)
16	SSMP	ss662334653	Apr 25, 2013 (138)
17	EVA-GONL	ss995007668	Aug 21, 2014 (142)
18	JMKIDD_LAB	ss1082412278	Aug 21, 2014 (142)
19	1000GENOMES	ss1365876445	Aug 21, 2014 (142)
20	EVA_GENOME_DK	ss1579618292	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1639338814	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1682332847	Apr 01, 2015 (144)
23	EVA_DECODE	ss1699073286	Apr 01, 2015 (144)
24	WEILL_CORNELL_DGM	ss1938558898	Feb 12, 2016 (147)
25	GENOMED	ss1969197617	Jul 19, 2016 (147)
26	JJLAB	ss2030049622	Sep 14, 2016 (149)
27	USC_VALOUEV	ss2158650351	Dec 20, 2016 (150)
28	HUMAN_LONGEVITY	ss2244946207	Dec 20, 2016 (150)
29	SYSTEMSBIOZJU	ss2629522389	Nov 08, 2017 (151)
30	GRF	ss2704377101	Nov 08, 2017 (151)
31	GNOMAD	ss2970655212	Nov 08, 2017 (151)
32	SWEGEN	ss3018725331	Nov 08, 2017 (151)
33	BIOINF_KMB_FNS_UNIBA	ss3028861449	Nov 08, 2017 (151)
34	CSHL	ss3352668233	Nov 08, 2017 (151)
35	URBANLAB	ss3651092503	Oct 12, 2018 (152)
36	EGCUT_WGS	ss3685300903	Jul 13, 2019 (153)
37	EVA_DECODE	ss3707525244	Jul 13, 2019 (153)
38	ACPOP	ss3743638045	Jul 13, 2019 (153)
39	EVA	ss3758980177	Jul 13, 2019 (153)
40	PACBIO	ss3788732333	Jul 13, 2019 (153)
41	PACBIO	ss3793610762	Jul 13, 2019 (153)
42	PACBIO	ss3798496885	Jul 13, 2019 (153)
43	KHV_HUMAN_GENOMES	ss3822144253	Jul 13, 2019 (153)
44	EVA	ss3835816668	Apr 27, 2020 (154)
45	EVA	ss3841536047	Apr 27, 2020 (154)
46	EVA	ss3847049428	Apr 27, 2020 (154)
47	SGDP_PRJ	ss3889784188	Apr 27, 2020 (154)
48	KRGDB	ss3940149439	Apr 27, 2020 (154)
49	KOGIC	ss3982903759	Apr 27, 2020 (154)
50	TOPMED	ss5098076683	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5231073857	Apr 26, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5309857724	Oct 16, 2022 (156)
53	EVA	ss5439235861	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5501936542	Oct 16, 2022 (156)
55	EVA	ss5512286750	Oct 16, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5616829027	Oct 16, 2022 (156)
57	SANFORD_IMAGENETICS	ss5663802283	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5791459436	Oct 16, 2022 (156)
59	YY_MCH	ss5818355340	Oct 16, 2022 (156)
60	EVA	ss5838898517	Oct 16, 2022 (156)
61	EVA	ss5853257908	Oct 16, 2022 (156)
62	EVA	ss5891939379	Oct 16, 2022 (156)
63	EVA	ss5958689370	Oct 16, 2022 (156)
64	1000Genomes	NC_000021.8 - 25056083	Oct 12, 2018 (152)
65	1000Genomes_30x	NC_000021.9 - 23683766	Oct 16, 2022 (156)
66	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 25056083	Oct 12, 2018 (152)
67	Genetic variation in the Estonian population	NC_000021.8 - 25056083	Oct 12, 2018 (152)
68	The Danish reference pan genome	NC_000021.8 - 25056083	Apr 27, 2020 (154)
69	gnomAD - Genomes	NC_000021.9 - 23683766	Apr 26, 2021 (155)
70	Genome of the Netherlands Release 5	NC_000021.8 - 25056083	Apr 27, 2020 (154)
71	KOREAN population from KRGDB	NC_000021.8 - 25056083	Apr 27, 2020 (154)
72	Korean Genome Project	NC_000021.9 - 23683766	Apr 27, 2020 (154)
73	Northern Sweden	NC_000021.8 - 25056083	Jul 13, 2019 (153)
74	Qatari	NC_000021.8 - 25056083	Apr 27, 2020 (154)
75	SGDP_PRJ	NC_000021.8 - 25056083	Apr 27, 2020 (154)
76	Siberian	NC_000021.8 - 25056083	Apr 27, 2020 (154)
77	8.3KJPN	NC_000021.8 - 25056083	Apr 26, 2021 (155)
78	14KJPN	NC_000021.9 - 23683766	Oct 16, 2022 (156)
79	TopMed	NC_000021.9 - 23683766	Apr 26, 2021 (155)
80	UK 10K study - Twins	NC_000021.8 - 25056083	Oct 12, 2018 (152)
81	A Vietnamese Genetic Variation Database	NC_000021.8 - 25056083	Jul 13, 2019 (153)
82	ALFA	NC_000021.9 - 23683766	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)
rs59960246	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss81079795, ss117481271, ss171901900, ss255880304, ss283499303, ss287510319, ss292690502, ss1699073286	NC_000021.7:23977953:G:A	NC_000021.9:23683765:G:A	(self)
79379236, 43922481, 31039151, 5783231, 19568330, 47326833, 16922910, 20600820, 41801168, 11166705, 89043164, 43922481, 9690771, ss237938051, ss244085972, ss662334653, ss995007668, ss1082412278, ss1365876445, ss1579618292, ss1639338814, ss1682332847, ss1938558898, ss1969197617, ss2030049622, ss2158650351, ss2629522389, ss2704377101, ss2970655212, ss3018725331, ss3352668233, ss3685300903, ss3743638045, ss3758980177, ss3788732333, ss3793610762, ss3798496885, ss3835816668, ss3841536047, ss3889784188, ss3940149439, ss5231073857, ss5439235861, ss5512286750, ss5663802283, ss5838898517, ss5958689370	NC_000021.8:25056082:G:A	NC_000021.9:23683765:G:A	(self)
104354962, 560309373, 39281760, 125296540, 373185629, 6577015227, ss2244946207, ss3028861449, ss3651092503, ss3707525244, ss3822144253, ss3847049428, ss3982903759, ss5098076683, ss5309857724, ss5501936542, ss5616829027, ss5791459436, ss5818355340, ss5853257908, ss5891939379	NC_000021.9:23683765:G:A	NC_000021.9:23683765:G:A	(self)
ss18309344, ss21804217	NT_011512.9:10717953:G:A	NC_000021.9:23683765:G:A	(self)
ss41480877, ss96161140, ss133085835, ss138298573	NT_011512.11:10717953:G:A	NC_000021.9:23683765:G:A	(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 rs12152027

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs12152027