Name: rs2521984
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.

rs2521984

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:32946860 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.326824 (86507/264690, TOPMED)
C=0.333514 (46680/139964, GnomAD)
C=0.30393 (13102/43108, ALFA) (+ 20 more)
C=0.00011 (3/28258, 14KJPN)
C=0.00006 (1/16760, 8.3KJPN)
C=0.2900 (1857/6404, 1000G_30x)
C=0.2790 (1397/5008, 1000G)
C=0.3042 (1363/4480, Estonian)
C=0.2761 (1064/3854, ALSPAC)
C=0.2754 (1021/3708, TWINSUK)
C=0.0005 (1/1832, Korea1K)
C=0.3838 (598/1558, HapMap)
C=0.3019 (343/1136, Daghestan)
C=0.253 (252/998, GoNL)
C=0.010 (8/792, PRJEB37584)
C=0.160 (100/626, Chileans)
C=0.272 (163/600, NorthernSweden)
C=0.264 (57/216, Qatari)
C=0.005 (1/214, Vietnamese)
T=0.378 (68/180, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
T=0.50 (9/18, Siberian)
C=0.50 (9/18, 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	43108	T=0.69607	C=0.30393	0.496196	0.104064	0.39974	36
European	Sub	31834	T=0.72529	C=0.27471	0.530565	0.079977	0.389458	5
African	Sub	6258	T=0.4920	C=0.5080	0.244807	0.260786	0.494407	0
African Others	Sub	210	T=0.448	C=0.552	0.180952	0.285714	0.533333	0
African American	Sub	6048	T=0.4936	C=0.5064	0.247024	0.259921	0.493056	0
Asian	Sub	206	T=1.000	C=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	148	T=1.000	C=0.000	1.0	0.0	0.0	N/A
Other Asian	Sub	58	T=1.00	C=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	292	T=0.627	C=0.373	0.363014	0.109589	0.527397	2
Latin American 2	Sub	2770	T=0.7787	C=0.2213	0.60722	0.049819	0.34296	0
South Asian	Sub	112	T=0.795	C=0.205	0.625	0.035714	0.339286	0
Other	Sub	1636	T=0.7353	C=0.2647	0.552567	0.081907	0.365526	2

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	T=0.673176	C=0.326824
gnomAD - Genomes	Global	Study-wide	139964	T=0.666486	C=0.333514
gnomAD - Genomes	European	Sub	75834	T=0.72325	C=0.27675
gnomAD - Genomes	African	Sub	41892	T=0.49439	C=0.50561
gnomAD - Genomes	American	Sub	13632	T=0.76929	C=0.23071
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.7784	C=0.2216
gnomAD - Genomes	East Asian	Sub	3130	T=0.9984	C=0.0016
gnomAD - Genomes	Other	Sub	2154	T=0.7094	C=0.2906
Allele Frequency Aggregator	Total	Global	43108	T=0.69607	C=0.30393
Allele Frequency Aggregator	European	Sub	31834	T=0.72529	C=0.27471
Allele Frequency Aggregator	African	Sub	6258	T=0.4920	C=0.5080
Allele Frequency Aggregator	Latin American 2	Sub	2770	T=0.7787	C=0.2213
Allele Frequency Aggregator	Other	Sub	1636	T=0.7353	C=0.2647
Allele Frequency Aggregator	Latin American 1	Sub	292	T=0.627	C=0.373
Allele Frequency Aggregator	Asian	Sub	206	T=1.000	C=0.000
Allele Frequency Aggregator	South Asian	Sub	112	T=0.795	C=0.205
14KJPN	JAPANESE	Study-wide	28258	T=0.99989	C=0.00011
8.3KJPN	JAPANESE	Study-wide	16760	T=0.99994	C=0.00006
1000Genomes_30x	Global	Study-wide	6404	T=0.7100	C=0.2900
1000Genomes_30x	African	Sub	1786	T=0.4339	C=0.5661
1000Genomes_30x	Europe	Sub	1266	T=0.7180	C=0.2820
1000Genomes_30x	South Asian	Sub	1202	T=0.7920	C=0.2080
1000Genomes_30x	East Asian	Sub	1170	T=1.0000	C=0.0000
1000Genomes_30x	American	Sub	980	T=0.756	C=0.244
1000Genomes	Global	Study-wide	5008	T=0.7210	C=0.2790
1000Genomes	African	Sub	1322	T=0.4297	C=0.5703
1000Genomes	East Asian	Sub	1008	T=1.0000	C=0.0000
1000Genomes	Europe	Sub	1006	T=0.7296	C=0.2704
1000Genomes	South Asian	Sub	978	T=0.796	C=0.204
1000Genomes	American	Sub	694	T=0.754	C=0.246
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6958	C=0.3042
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7239	C=0.2761
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7246	C=0.2754
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9995	C=0.0005
HapMap	Global	Study-wide	1558	T=0.6162	C=0.3838
HapMap	African	Sub	692	T=0.457	C=0.543
HapMap	American	Sub	600	T=0.712	C=0.288
HapMap	Europe	Sub	176	T=0.722	C=0.278
HapMap	Asian	Sub	90	T=1.00	C=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.6981	C=0.3019
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.651	C=0.349
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.743	C=0.257
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.844	C=0.156
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.685	C=0.315
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.72	C=0.28
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.81	C=0.19
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.747	C=0.253
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.990	C=0.010
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.990	C=0.010
Chileans	Chilean	Study-wide	626	T=0.840	C=0.160
Northern Sweden	ACPOP	Study-wide	600	T=0.728	C=0.272
Qatari	Global	Study-wide	216	T=0.736	C=0.264
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.995	C=0.005
SGDP_PRJ	Global	Study-wide	180	T=0.378	C=0.622
The Danish reference pan genome	Danish	Study-wide	40	T=0.88	C=0.12
Siberian	Global	Study-wide	18	T=0.50	C=0.50

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 17	NC_000017.11:g.32946860T>C
GRCh37.p13 chr 17	NC_000017.10:g.31273878T>C

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	T=	C
GRCh38.p14 chr 17	NC_000017.11:g.32946860=	NC_000017.11:g.32946860T>C
GRCh37.p13 chr 17	NC_000017.10:g.31273878=	NC_000017.10:g.31273878T>C

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, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3534909	Sep 28, 2001 (100)
2	TSC-CSHL	ss4072714	Nov 05, 2001 (101)
3	BCM_SSAHASNP	ss14301804	Dec 05, 2003 (119)
4	PERLEGEN	ss23795459	Sep 20, 2004 (123)
5	AFFY	ss65940884	Dec 01, 2006 (127)
6	AFFY	ss76560150	Dec 07, 2007 (129)
7	HGSV	ss80661597	Dec 14, 2007 (130)
8	KRIBB_YJKIM	ss104874367	Feb 04, 2009 (130)
9	1000GENOMES	ss109722032	Jan 24, 2009 (130)
10	1000GENOMES	ss113457887	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss118036766	Feb 14, 2009 (130)
12	COMPLETE_GENOMICS	ss168030437	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss169442847	Jul 04, 2010 (132)
14	1000GENOMES	ss227518892	Jul 14, 2010 (132)
15	1000GENOMES	ss237222497	Jul 15, 2010 (132)
16	PJP	ss292038722	May 09, 2011 (134)
17	TISHKOFF	ss565235858	Apr 25, 2013 (138)
18	SSMP	ss661035346	Apr 25, 2013 (138)
19	EVA-GONL	ss993044560	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1081015636	Aug 21, 2014 (142)
21	1000GENOMES	ss1358398840	Aug 21, 2014 (142)
22	HAMMER_LAB	ss1397728922	Sep 08, 2015 (146)
23	DDI	ss1428016807	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1578132905	Apr 01, 2015 (144)
25	EVA_UK10K_ALSPAC	ss1635522762	Apr 01, 2015 (144)
26	EVA_UK10K_TWINSUK	ss1678516795	Apr 01, 2015 (144)
27	EVA_DECODE	ss1697085314	Apr 01, 2015 (144)
28	EVA_SVP	ss1713577779	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1808755108	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1936502994	Feb 12, 2016 (147)
31	GENOMED	ss1968377456	Jul 19, 2016 (147)
32	JJLAB	ss2029029938	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2157495482	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2216342374	Dec 20, 2016 (150)
35	ILLUMINA	ss2710847022	Nov 08, 2017 (151)
36	GNOMAD	ss2949118354	Nov 08, 2017 (151)
37	SWEGEN	ss3015426452	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3028335133	Nov 08, 2017 (151)
39	CSHL	ss3351717808	Nov 08, 2017 (151)
40	EGCUT_WGS	ss3682325253	Jul 13, 2019 (153)
41	EVA_DECODE	ss3700339155	Jul 13, 2019 (153)
42	ACPOP	ss3741973446	Jul 13, 2019 (153)
43	EVA	ss3754591680	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3819869920	Jul 13, 2019 (153)
45	EVA	ss3834836229	Apr 27, 2020 (154)
46	EVA	ss3841027703	Apr 27, 2020 (154)
47	EVA	ss3846524643	Apr 27, 2020 (154)
48	SGDP_PRJ	ss3885612834	Apr 27, 2020 (154)
49	KOGIC	ss3978746278	Apr 27, 2020 (154)
50	EVA	ss3984721980	Apr 27, 2021 (155)
51	TOPMED	ss5033769614	Apr 27, 2021 (155)
52	TOMMO_GENOMICS	ss5222106044	Apr 27, 2021 (155)
53	1000G_HIGH_COVERAGE	ss5302904672	Oct 17, 2022 (156)
54	EVA	ss5427184818	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5495991172	Oct 17, 2022 (156)
56	EVA	ss5511751551	Oct 17, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5606513731	Oct 17, 2022 (156)
58	SANFORD_IMAGENETICS	ss5659976339	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5778216900	Oct 17, 2022 (156)
60	YY_MCH	ss5816489327	Oct 17, 2022 (156)
61	EVA	ss5833895531	Oct 17, 2022 (156)
62	EVA	ss5913708419	Oct 17, 2022 (156)
63	EVA	ss5951371475	Oct 17, 2022 (156)
64	1000Genomes	NC_000017.10 - 31273878	Oct 12, 2018 (152)
65	1000Genomes_30x	NC_000017.11 - 32946860	Oct 17, 2022 (156)
66	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 31273878	Oct 12, 2018 (152)
67	Chileans	NC_000017.10 - 31273878	Apr 27, 2020 (154)
68	Genome-wide autozygosity in Daghestan	NC_000017.9 - 28297991	Apr 27, 2020 (154)
69	Genetic variation in the Estonian population	NC_000017.10 - 31273878	Oct 12, 2018 (152)
70	The Danish reference pan genome	NC_000017.10 - 31273878	Apr 27, 2020 (154)
71	gnomAD - Genomes	NC_000017.11 - 32946860	Apr 27, 2021 (155)
72	Genome of the Netherlands Release 5	NC_000017.10 - 31273878	Apr 27, 2020 (154)
73	HapMap	NC_000017.11 - 32946860	Apr 27, 2020 (154)
74	Korean Genome Project	NC_000017.11 - 32946860	Apr 27, 2020 (154)
75	Northern Sweden	NC_000017.10 - 31273878	Jul 13, 2019 (153)
76	CNV burdens in cranial meningiomas	NC_000017.10 - 31273878	Apr 27, 2021 (155)
77	Qatari	NC_000017.10 - 31273878	Apr 27, 2020 (154)
78	SGDP_PRJ	NC_000017.10 - 31273878	Apr 27, 2020 (154)
79	Siberian	NC_000017.10 - 31273878	Apr 27, 2020 (154)
80	8.3KJPN	NC_000017.10 - 31273878	Apr 27, 2021 (155)
81	14KJPN	NC_000017.11 - 32946860	Oct 17, 2022 (156)
82	TopMed	NC_000017.11 - 32946860	Apr 27, 2021 (155)
83	UK 10K study - Twins	NC_000017.10 - 31273878	Oct 12, 2018 (152)
84	A Vietnamese Genetic Variation Database	NC_000017.10 - 31273878	Jul 13, 2019 (153)
85	ALFA	NC_000017.11 - 32946860	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)
rs57932626	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
198818, ss76560150, ss80661597, ss109722032, ss113457887, ss118036766, ss168030437, ss169442847, ss292038722, ss1397728922, ss1697085314, ss1713577779	NC_000017.9:28297990:T:C	NC_000017.11:32946859:T:C	(self)
71631607, 39704722, 179957, 28063501, 4336144, 17699512, 15258311, 271525, 18544916, 37629814, 10011836, 80075351, 39704722, 8789512, ss227518892, ss237222497, ss565235858, ss661035346, ss993044560, ss1081015636, ss1358398840, ss1428016807, ss1578132905, ss1635522762, ss1678516795, ss1808755108, ss1936502994, ss1968377456, ss2029029938, ss2157495482, ss2710847022, ss2949118354, ss3015426452, ss3351717808, ss3682325253, ss3741973446, ss3754591680, ss3834836229, ss3841027703, ss3885612834, ss3984721980, ss5222106044, ss5427184818, ss5511751551, ss5659976339, ss5833895531, ss5951371475	NC_000017.10:31273877:T:C	NC_000017.11:32946859:T:C	(self)
94039666, 505352081, 1477277, 35124279, 112054004, 249315276, 8610379824, ss2216342374, ss3028335133, ss3700339155, ss3819869920, ss3846524643, ss3978746278, ss5033769614, ss5302904672, ss5495991172, ss5606513731, ss5778216900, ss5816489327, ss5913708419	NC_000017.11:32946859:T:C	NC_000017.11:32946859:T:C	(self)
ss14301804	NT_010799.14:6010857:T:C	NC_000017.11:32946859:T:C	(self)
ss3534909, ss4072714, ss23795459, ss65940884, ss104874367	NT_010799.15:6010871:T:C	NC_000017.11:32946859:T:C	(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 rs2521984

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

rs2521984