Name: rs28534997
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.

rs28534997

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:36815910 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.071994 (19056/264690, TOPMED)
G=0.072605 (10177/140170, GnomAD)
G=0.00832 (235/28258, 14KJPN) (+ 16 more)
G=0.06633 (1253/18890, ALFA)
G=0.00746 (125/16760, 8.3KJPN)
G=0.0628 (402/6404, 1000G_30x)
G=0.0601 (301/5008, 1000G)
G=0.0654 (293/4480, Estonian)
G=0.0537 (207/3854, ALSPAC)
G=0.0550 (204/3708, TWINSUK)
G=0.0058 (17/2922, KOREAN)
G=0.051 (51/998, GoNL)
G=0.067 (40/600, NorthernSweden)
G=0.125 (27/216, Qatari)
G=0.005 (1/216, Vietnamese)
C=0.44 (34/78, SGDP_PRJ)
G=0.05 (2/40, GENOME_DK)
C=0.5 (1/2, Siberian)
G=0.5 (1/2, 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	C=0.93367	G=0.06633
European	Sub	14286	C=0.93882	G=0.06118
African	Sub	2946	C=0.9005	G=0.0995
African Others	Sub	114	C=0.877	G=0.123
African American	Sub	2832	C=0.9015	G=0.0985
Asian	Sub	112	C=0.982	G=0.018
East Asian	Sub	86	C=0.98	G=0.02
Other Asian	Sub	26	C=1.00	G=0.00
Latin American 1	Sub	146	C=0.925	G=0.075
Latin American 2	Sub	610	C=0.952	G=0.048
South Asian	Sub	98	C=0.99	G=0.01
Other	Sub	692	C=0.938	G=0.062

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=0.928006	G=0.071994
gnomAD - Genomes	Global	Study-wide	140170	C=0.927395	G=0.072605
gnomAD - Genomes	European	Sub	75944	C=0.93766	G=0.06234
gnomAD - Genomes	African	Sub	41986	C=0.90118	G=0.09882
gnomAD - Genomes	American	Sub	13644	C=0.93997	G=0.06003
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.9157	G=0.0843
gnomAD - Genomes	East Asian	Sub	3130	C=0.9920	G=0.0080
gnomAD - Genomes	Other	Sub	2146	C=0.9208	G=0.0792
14KJPN	JAPANESE	Study-wide	28258	C=0.99168	G=0.00832
Allele Frequency Aggregator	Total	Global	18890	C=0.93367	G=0.06633
Allele Frequency Aggregator	European	Sub	14286	C=0.93882	G=0.06118
Allele Frequency Aggregator	African	Sub	2946	C=0.9005	G=0.0995
Allele Frequency Aggregator	Other	Sub	692	C=0.938	G=0.062
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.952	G=0.048
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.925	G=0.075
Allele Frequency Aggregator	Asian	Sub	112	C=0.982	G=0.018
Allele Frequency Aggregator	South Asian	Sub	98	C=0.99	G=0.01
8.3KJPN	JAPANESE	Study-wide	16760	C=0.99254	G=0.00746
1000Genomes_30x	Global	Study-wide	6404	C=0.9372	G=0.0628
1000Genomes_30x	African	Sub	1786	C=0.8964	G=0.1036
1000Genomes_30x	Europe	Sub	1266	C=0.9250	G=0.0750
1000Genomes_30x	South Asian	Sub	1202	C=0.9401	G=0.0599
1000Genomes_30x	East Asian	Sub	1170	C=0.9966	G=0.0034
1000Genomes_30x	American	Sub	980	C=0.953	G=0.047
1000Genomes	Global	Study-wide	5008	C=0.9399	G=0.0601
1000Genomes	African	Sub	1322	C=0.8994	G=0.1006
1000Genomes	East Asian	Sub	1008	C=0.9970	G=0.0030
1000Genomes	Europe	Sub	1006	C=0.9264	G=0.0736
1000Genomes	South Asian	Sub	978	C=0.940	G=0.060
1000Genomes	American	Sub	694	C=0.954	G=0.046
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9346	G=0.0654
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9463	G=0.0537
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9450	G=0.0550
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9942	G=0.0058
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.949	G=0.051
Northern Sweden	ACPOP	Study-wide	600	C=0.933	G=0.067
Qatari	Global	Study-wide	216	C=0.875	G=0.125
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.995	G=0.005
SGDP_PRJ	Global	Study-wide	78	C=0.44	G=0.56
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	G=0.05
Siberian	Global	Study-wide	2	C=0.5	G=0.5

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 2	NC_000002.12:g.36815910C>G
GRCh37.p13 chr 2	NC_000002.11:g.37043053C>G
VIT RefSeqGene	NG_050963.1:g.124226C>G

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
GRCh38.p14 chr 2	NC_000002.12:g.36815910=	NC_000002.12:g.36815910C>G
GRCh37.p13 chr 2	NC_000002.11:g.37043053=	NC_000002.11:g.37043053C>G
VIT RefSeqGene	NG_050963.1:g.124226=	NG_050963.1:g.124226C>G

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#.

46 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss35265804	May 24, 2005 (125)
2	ILLUMINA-UK	ss117660048	Feb 14, 2009 (130)
3	BUSHMAN	ss200285727	Jul 04, 2010 (132)
4	1000GENOMES	ss219175207	Jul 14, 2010 (132)
5	1000GENOMES	ss231116548	Jul 14, 2010 (132)
6	ILLUMINA	ss483121934	May 04, 2012 (137)
7	ILLUMINA	ss484073469	May 04, 2012 (137)
8	TISHKOFF	ss555479645	Apr 25, 2013 (138)
9	SSMP	ss649064560	Apr 25, 2013 (138)
10	ILLUMINA	ss782004286	Aug 21, 2014 (142)
11	EVA-GONL	ss976693709	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1069011850	Aug 21, 2014 (142)
13	1000GENOMES	ss1296692311	Aug 21, 2014 (142)
14	EVA_GENOME_DK	ss1578823824	Apr 01, 2015 (144)
15	EVA_DECODE	ss1586100609	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1603225994	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1646220027	Apr 01, 2015 (144)
18	HAMMER_LAB	ss1796567997	Sep 08, 2015 (146)
19	WEILL_CORNELL_DGM	ss1919926846	Feb 12, 2016 (147)
20	JJLAB	ss2020494217	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2148538220	Dec 20, 2016 (150)
22	HUMAN_LONGEVITY	ss2229140694	Dec 20, 2016 (150)
23	ILLUMINA	ss2633597346	Nov 08, 2017 (151)
24	GNOMAD	ss2771926789	Nov 08, 2017 (151)
25	SWEGEN	ss2989292013	Nov 08, 2017 (151)
26	CSHL	ss3344167077	Nov 08, 2017 (151)
27	ILLUMINA	ss3642087907	Oct 11, 2018 (152)
28	BIOINF_KMB_FNS_UNIBA	ss3645545885	Oct 11, 2018 (152)
29	EGCUT_WGS	ss3657252342	Jul 13, 2019 (153)
30	EVA_DECODE	ss3703632648	Jul 13, 2019 (153)
31	ACPOP	ss3728322626	Jul 13, 2019 (153)
32	EVA	ss3756595576	Jul 13, 2019 (153)
33	KHV_HUMAN_GENOMES	ss3800974044	Jul 13, 2019 (153)
34	EVA	ss3826918552	Apr 25, 2020 (154)
35	SGDP_PRJ	ss3851995523	Apr 25, 2020 (154)
36	KRGDB	ss3897424048	Apr 25, 2020 (154)
37	TOPMED	ss4500890811	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5150746297	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5247593383	Oct 17, 2022 (156)
40	HUGCELL_USP	ss5447839785	Oct 17, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5522562395	Oct 17, 2022 (156)
42	SANFORD_IMAGENETICS	ss5628480043	Oct 17, 2022 (156)
43	TOMMO_GENOMICS	ss5679192002	Oct 17, 2022 (156)
44	EVA	ss5819919727	Oct 17, 2022 (156)
45	EVA	ss5929816319	Oct 17, 2022 (156)
46	EVA	ss5954690767	Oct 17, 2022 (156)
47	1000Genomes	NC_000002.11 - 37043053	Oct 11, 2018 (152)
48	1000Genomes_30x	NC_000002.12 - 36815910	Oct 17, 2022 (156)
49	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 37043053	Oct 11, 2018 (152)
50	Genetic variation in the Estonian population	NC_000002.11 - 37043053	Oct 11, 2018 (152)
51	The Danish reference pan genome	NC_000002.11 - 37043053	Apr 25, 2020 (154)
52	gnomAD - Genomes	NC_000002.12 - 36815910	Apr 26, 2021 (155)
53	Genome of the Netherlands Release 5	NC_000002.11 - 37043053	Apr 25, 2020 (154)
54	KOREAN population from KRGDB	NC_000002.11 - 37043053	Apr 25, 2020 (154)
55	Northern Sweden	NC_000002.11 - 37043053	Jul 13, 2019 (153)
56	Qatari	NC_000002.11 - 37043053	Apr 25, 2020 (154)
57	SGDP_PRJ	NC_000002.11 - 37043053	Apr 25, 2020 (154)
58	Siberian	NC_000002.11 - 37043053	Apr 25, 2020 (154)
59	8.3KJPN	NC_000002.11 - 37043053	Apr 26, 2021 (155)
60	14KJPN	NC_000002.12 - 36815910	Oct 17, 2022 (156)
61	TopMed	NC_000002.12 - 36815910	Apr 26, 2021 (155)
62	UK 10K study - Twins	NC_000002.11 - 37043053	Oct 11, 2018 (152)
63	A Vietnamese Genetic Variation Database	NC_000002.11 - 37043053	Jul 13, 2019 (153)
64	ALFA	NC_000002.12 - 36815910	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss35265804	NC_000002.9:36954703:C:G	NC_000002.12:36815909:C:G	(self)
ss117660048, ss200285727, ss484073469, ss1586100609	NC_000002.10:36896556:C:G	NC_000002.12:36815909:C:G	(self)
7620511, 4232565, 2990590, 4998453, 1861161, 4601442, 1607491, 1968776, 4012503, 1054574, 8715604, 4232565, 921310, ss219175207, ss231116548, ss483121934, ss555479645, ss649064560, ss782004286, ss976693709, ss1069011850, ss1296692311, ss1578823824, ss1603225994, ss1646220027, ss1796567997, ss1919926846, ss2020494217, ss2148538220, ss2633597346, ss2771926789, ss2989292013, ss3344167077, ss3642087907, ss3657252342, ss3728322626, ss3756595576, ss3826918552, ss3851995523, ss3897424048, ss5150746297, ss5628480043, ss5819919727, ss5954690767	NC_000002.11:37043052:C:G	NC_000002.12:36815909:C:G	(self)
10088330, 54082279, 13029106, 304713690, 5935961106, ss2229140694, ss3645545885, ss3703632648, ss3800974044, ss4500890811, ss5247593383, ss5447839785, ss5522562395, ss5679192002, ss5929816319	NC_000002.12:36815909:C:G	NC_000002.12:36815909:C:G	(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 rs28534997

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

rs28534997