rs2970852 RefSNP Report - dbSNP

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.

rs2970852

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:23819900 (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: T=0.250149 (66212/264690, TOPMED)
T=0.255642 (35771/139926, GnomAD)
T=0.04930 (1393/28258, 14KJPN) (+ 18 more)
T=0.27792 (5250/18890, ALFA)
T=0.04994 (837/16760, 8.3KJPN)
T=0.2147 (1075/5008, 1000G)
T=0.3612 (1618/4480, Estonian)
T=0.2525 (973/3854, ALSPAC)
T=0.2346 (870/3708, TWINSUK)
T=0.0863 (253/2930, KOREAN)
T=0.1831 (208/1136, Daghestan)
T=0.261 (260/998, GoNL)
T=0.082 (65/790, PRJEB37584)
T=0.272 (163/600, NorthernSweden)
T=0.148 (49/330, HapMap)
C=0.402 (98/244, SGDP_PRJ)
T=0.245 (53/216, Qatari)
T=0.131 (28/214, Vietnamese)
T=0.17 (7/40, GENOME_DK)
T=0.05 (2/40, Ancient Sardinia)
C=0.42 (11/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PPARGC1A : Intron Variant
Publications: 2 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	18890	C=0.72208	T=0.27792	0.523875	0.079725	0.3964	1
European	Sub	14286	C=0.71021	T=0.28979	0.50679	0.086378	0.406832	1
African	Sub	2946	C=0.7919	T=0.2081	0.623897	0.040054	0.336049	0
African Others	Sub	114	C=0.886	T=0.114	0.807018	0.035088	0.157895	2
African American	Sub	2832	C=0.7881	T=0.2119	0.616525	0.040254	0.34322	1
Asian	Sub	112	C=0.929	T=0.071	0.857143	0.0	0.142857	0
East Asian	Sub	86	C=0.93	T=0.07	0.860465	0.0	0.139535	0
Other Asian	Sub	26	C=0.92	T=0.08	0.846154	0.0	0.153846	0
Latin American 1	Sub	146	C=0.767	T=0.233	0.575342	0.041096	0.383562	0
Latin American 2	Sub	610	C=0.602	T=0.398	0.347541	0.144262	0.508197	1
South Asian	Sub	98	C=0.70	T=0.30	0.469388	0.061224	0.469388	0
Other	Sub	692	C=0.736	T=0.264	0.549133	0.078035	0.372832	0

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=0.749851	T=0.250149
gnomAD - Genomes	Global	Study-wide	139926	C=0.744358	T=0.255642
gnomAD - Genomes	European	Sub	75818	C=0.73026	T=0.26974
gnomAD - Genomes	African	Sub	41922	C=0.77563	T=0.22437
gnomAD - Genomes	American	Sub	13616	C=0.66187	T=0.33813
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.8229	T=0.1771
gnomAD - Genomes	East Asian	Sub	3106	C=0.9240	T=0.0760
gnomAD - Genomes	Other	Sub	2144	C=0.7733	T=0.2267
14KJPN	JAPANESE	Study-wide	28258	C=0.95070	T=0.04930
Allele Frequency Aggregator	Total	Global	18890	C=0.72208	T=0.27792
Allele Frequency Aggregator	European	Sub	14286	C=0.71021	T=0.28979
Allele Frequency Aggregator	African	Sub	2946	C=0.7919	T=0.2081
Allele Frequency Aggregator	Other	Sub	692	C=0.736	T=0.264
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.602	T=0.398
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.767	T=0.233
Allele Frequency Aggregator	Asian	Sub	112	C=0.929	T=0.071
Allele Frequency Aggregator	South Asian	Sub	98	C=0.70	T=0.30
8.3KJPN	JAPANESE	Study-wide	16760	C=0.95006	T=0.04994
1000Genomes	Global	Study-wide	5008	C=0.7853	T=0.2147
1000Genomes	African	Sub	1322	C=0.7882	T=0.2118
1000Genomes	East Asian	Sub	1008	C=0.9177	T=0.0823
1000Genomes	Europe	Sub	1006	C=0.7505	T=0.2495
1000Genomes	South Asian	Sub	978	C=0.799	T=0.201
1000Genomes	American	Sub	694	C=0.620	T=0.380
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6388	T=0.3612
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.7475	T=0.2525
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.7654	T=0.2346
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9137	T=0.0863
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.8169	T=0.1831
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.811	T=0.189
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.819	T=0.181
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.795	T=0.205
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.815	T=0.185
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.88	T=0.12
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.83	T=0.17
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.739	T=0.261
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.918	T=0.082
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.918	T=0.082
Northern Sweden	ACPOP	Study-wide	600	C=0.728	T=0.272
HapMap	Global	Study-wide	330	C=0.852	T=0.148
HapMap	African	Sub	120	C=0.783	T=0.217
HapMap	American	Sub	120	C=0.850	T=0.150
HapMap	Asian	Sub	90	C=0.94	T=0.06
SGDP_PRJ	Global	Study-wide	244	C=0.402	T=0.598
Qatari	Global	Study-wide	216	C=0.755	T=0.245
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.869	T=0.131
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	40	C=0.95	T=0.05
Siberian	Global	Study-wide	26	C=0.42	T=0.58

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 4	NC_000004.12:g.23819900C>T
GRCh37.p13 chr 4	NC_000004.11:g.23821523C>T
PPARGC1A RefSeqGene	NG_028250.2:g.658076G>A

Gene: PPARGC1A, PPARG coactivator 1 alpha (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PPARGC1A transcript variant 1	NM_001330751.2:c.892+4380… NM_001330751.2:c.892+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 3	NM_001330752.2:c.841+4380… NM_001330752.2:c.841+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 4	NM_001330753.2:c.496+4380… NM_001330753.2:c.496+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 5	NM_001354825.2:c.892+4380… NM_001354825.2:c.892+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 6	NM_001354826.2:c.496+4380… NM_001354826.2:c.496+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 7	NM_001354827.2:c.892+4380… NM_001354827.2:c.892+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 2	NM_013261.5:c.877+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant 8	NM_001354828.2:c.	N/A	Genic Downstream Transcript Variant
PPARGC1A transcript variant 9	NR_148981.2:n.	N/A	Intron Variant
PPARGC1A transcript variant 10	NR_148982.2:n.	N/A	Intron Variant
PPARGC1A transcript variant 11	NR_148983.2:n.	N/A	Intron Variant
PPARGC1A transcript variant 12	NR_148984.2:n.	N/A	Intron Variant
PPARGC1A transcript variant 13	NR_148985.2:n.	N/A	Intron Variant
PPARGC1A transcript variant 14	NR_148986.2:n.	N/A	Intron Variant
PPARGC1A transcript variant 15	NR_148987.2:n.	N/A	Intron Variant
PPARGC1A transcript variant X1	XM_005248131.6:c.889+4380… XM_005248131.6:c.889+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X2	XM_005248132.1:c.868+4380… XM_005248132.1:c.868+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X9	XM_005248134.5:c.892+4380… XM_005248134.5:c.892+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X5	XM_011513768.2:c.772+4380… XM_011513768.2:c.772+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X11	XM_011513769.3:c.892+4380… XM_011513769.3:c.892+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X14	XM_011513771.2:c.496+4380… XM_011513771.2:c.496+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X3	XM_047449546.1:c.841+4380… XM_047449546.1:c.841+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X4	XM_047449547.1:c.772+4380… XM_047449547.1:c.772+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X6	XM_047449548.1:c.772+4380… XM_047449548.1:c.772+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X7	XM_047449549.1:c.772+4380… XM_047449549.1:c.772+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X8	XM_047449550.1:c.772+4380… XM_047449550.1:c.772+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X10	XM_047449551.1:c.877+4380… XM_047449551.1:c.877+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X12	XM_047449552.1:c.877+4380… XM_047449552.1:c.877+4380G>A	N/A	Intron Variant
PPARGC1A transcript variant X13	XM_047449553.1:c.496+4380… XM_047449553.1:c.496+4380G>A	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 4	NC_000004.12:g.23819900=	NC_000004.12:g.23819900C>T
GRCh37.p13 chr 4	NC_000004.11:g.23821523=	NC_000004.11:g.23821523C>T
PPARGC1A RefSeqGene	NG_028250.2:g.658076=	NG_028250.2:g.658076G>A
PPARGC1A transcript variant 1	NM_001330751.2:c.892+4380=	NM_001330751.2:c.892+4380G>A
PPARGC1A transcript variant 3	NM_001330752.2:c.841+4380=	NM_001330752.2:c.841+4380G>A
PPARGC1A transcript variant 4	NM_001330753.2:c.496+4380=	NM_001330753.2:c.496+4380G>A
PPARGC1A transcript variant 5	NM_001354825.2:c.892+4380=	NM_001354825.2:c.892+4380G>A
PPARGC1A transcript variant 6	NM_001354826.2:c.496+4380=	NM_001354826.2:c.496+4380G>A
PPARGC1A transcript variant 7	NM_001354827.2:c.892+4380=	NM_001354827.2:c.892+4380G>A
PPARGC1A transcript	NM_013261.3:c.877+4380=	NM_013261.3:c.877+4380G>A
PPARGC1A transcript variant 2	NM_013261.5:c.877+4380=	NM_013261.5:c.877+4380G>A
PPARGC1A transcript variant X1	XM_005248130.1:c.892+4380=	XM_005248130.1:c.892+4380G>A
PPARGC1A transcript variant X2	XM_005248131.1:c.889+4380=	XM_005248131.1:c.889+4380G>A
PPARGC1A transcript variant X1	XM_005248131.6:c.889+4380=	XM_005248131.6:c.889+4380G>A
PPARGC1A transcript variant X2	XM_005248132.1:c.868+4380=	XM_005248132.1:c.868+4380G>A
PPARGC1A transcript variant X4	XM_005248133.1:c.841+4380=	XM_005248133.1:c.841+4380G>A
PPARGC1A transcript variant X5	XM_005248134.1:c.892+4380=	XM_005248134.1:c.892+4380G>A
PPARGC1A transcript variant X9	XM_005248134.5:c.892+4380=	XM_005248134.5:c.892+4380G>A
PPARGC1A transcript variant X5	XM_011513768.2:c.772+4380=	XM_011513768.2:c.772+4380G>A
PPARGC1A transcript variant X11	XM_011513769.3:c.892+4380=	XM_011513769.3:c.892+4380G>A
PPARGC1A transcript variant X14	XM_011513771.2:c.496+4380=	XM_011513771.2:c.496+4380G>A
PPARGC1A transcript variant X3	XM_047449546.1:c.841+4380=	XM_047449546.1:c.841+4380G>A
PPARGC1A transcript variant X4	XM_047449547.1:c.772+4380=	XM_047449547.1:c.772+4380G>A
PPARGC1A transcript variant X6	XM_047449548.1:c.772+4380=	XM_047449548.1:c.772+4380G>A
PPARGC1A transcript variant X7	XM_047449549.1:c.772+4380=	XM_047449549.1:c.772+4380G>A
PPARGC1A transcript variant X8	XM_047449550.1:c.772+4380=	XM_047449550.1:c.772+4380G>A
PPARGC1A transcript variant X10	XM_047449551.1:c.877+4380=	XM_047449551.1:c.877+4380G>A
PPARGC1A transcript variant X12	XM_047449552.1:c.877+4380=	XM_047449552.1:c.877+4380G>A
PPARGC1A transcript variant X13	XM_047449553.1:c.496+4380=	XM_047449553.1:c.496+4380G>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#.

59 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss4183924	Nov 05, 2001 (101)
2	PERLEGEN	ss24372365	Sep 20, 2004 (123)
3	ABI	ss44560188	Mar 14, 2006 (126)
4	PERLEGEN	ss68893604	May 18, 2007 (127)
5	PGA-UW-FHCRC	ss79313443	Dec 14, 2007 (130)
6	ILLUMINA-UK	ss116910818	Feb 14, 2009 (130)
7	COMPLETE_GENOMICS	ss166296472	Jul 04, 2010 (132)
8	1000GENOMES	ss220799123	Jul 14, 2010 (132)
9	1000GENOMES	ss232300257	Jul 14, 2010 (132)
10	1000GENOMES	ss239613115	Jul 15, 2010 (132)
11	GMI	ss277614777	May 04, 2012 (137)
12	TISHKOFF	ss557376149	Apr 25, 2013 (138)
13	SSMP	ss651145451	Apr 25, 2013 (138)
14	EVA-GONL	ss979873938	Aug 21, 2014 (142)
15	JMKIDD_LAB	ss1071355782	Aug 21, 2014 (142)
16	1000GENOMES	ss1308832638	Aug 21, 2014 (142)
17	HAMMER_LAB	ss1397369841	Sep 08, 2015 (146)
18	DDI	ss1429806811	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1580457912	Apr 01, 2015 (144)
20	EVA_DECODE	ss1589365159	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1609623994	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1652618027	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1801130571	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1923109089	Feb 12, 2016 (147)
25	GENOMED	ss1969683897	Jul 19, 2016 (147)
26	JJLAB	ss2022131735	Sep 14, 2016 (149)
27	CSHL	ss2136717946	Nov 08, 2017 (151)
28	USC_VALOUEV	ss2150240968	Dec 20, 2016 (150)
29	HUMAN_LONGEVITY	ss2261221840	Dec 20, 2016 (150)
30	SYSTEMSBIOZJU	ss2625566591	Nov 08, 2017 (151)
31	GRF	ss2705689535	Nov 08, 2017 (151)
32	GNOMAD	ss2806747935	Nov 08, 2017 (151)
33	SWEGEN	ss2994302093	Nov 08, 2017 (151)
34	BIOINF_KMB_FNS_UNIBA	ss3024834817	Nov 08, 2017 (151)
35	CSHL	ss3345593487	Nov 08, 2017 (151)
36	EGCUT_WGS	ss3662214802	Jul 13, 2019 (153)
37	EVA_DECODE	ss3711607051	Jul 13, 2019 (153)
38	ACPOP	ss3730946115	Jul 13, 2019 (153)
39	EVA	ss3761525053	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3804655835	Jul 13, 2019 (153)
41	EVA	ss3828422066	Apr 26, 2020 (154)
42	EVA	ss3837644949	Apr 26, 2020 (154)
43	EVA	ss3843079447	Apr 26, 2020 (154)
44	SGDP_PRJ	ss3858434684	Apr 26, 2020 (154)
45	KRGDB	ss3904593992	Apr 26, 2020 (154)
46	EVA	ss3984525062	Apr 26, 2021 (155)
47	EVA	ss3985058411	Apr 26, 2021 (155)
48	TOPMED	ss4606233530	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5164645975	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5258396135	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5457259184	Oct 13, 2022 (156)
52	EVA	ss5507425271	Oct 13, 2022 (156)
53	SANFORD_IMAGENETICS	ss5634553563	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5698416607	Oct 13, 2022 (156)
55	YY_MCH	ss5804848717	Oct 13, 2022 (156)
56	EVA	ss5843689156	Oct 13, 2022 (156)
57	EVA	ss5854123355	Oct 13, 2022 (156)
58	EVA	ss5862548044	Oct 13, 2022 (156)
59	EVA	ss5962937687	Oct 13, 2022 (156)
60	1000Genomes	NC_000004.11 - 23821523	Oct 12, 2018 (152)
61	The Avon Longitudinal Study of Parents and Children	NC_000004.11 - 23821523	Oct 12, 2018 (152)
62	Genome-wide autozygosity in Daghestan	NC_000004.10 - 23430621	Apr 26, 2020 (154)
63	Genetic variation in the Estonian population	NC_000004.11 - 23821523	Oct 12, 2018 (152)
64	The Danish reference pan genome	NC_000004.11 - 23821523	Apr 26, 2020 (154)
65	gnomAD - Genomes	NC_000004.12 - 23819900	Apr 26, 2021 (155)
66	Genome of the Netherlands Release 5	NC_000004.11 - 23821523	Apr 26, 2020 (154)
67	HapMap	NC_000004.12 - 23819900	Apr 26, 2020 (154)
68	KOREAN population from KRGDB	NC_000004.11 - 23821523	Apr 26, 2020 (154)
69	Northern Sweden	NC_000004.11 - 23821523	Jul 13, 2019 (153)
70	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000004.11 - 23821523	Apr 26, 2021 (155)
71	CNV burdens in cranial meningiomas	NC_000004.11 - 23821523	Apr 26, 2021 (155)
72	Qatari	NC_000004.11 - 23821523	Apr 26, 2020 (154)
73	SGDP_PRJ	NC_000004.11 - 23821523	Apr 26, 2020 (154)
74	Siberian	NC_000004.11 - 23821523	Apr 26, 2020 (154)
75	8.3KJPN	NC_000004.11 - 23821523	Apr 26, 2021 (155)
76	14KJPN	NC_000004.12 - 23819900	Oct 13, 2022 (156)
77	TopMed	NC_000004.12 - 23819900	Apr 26, 2021 (155)
78	UK 10K study - Twins	NC_000004.11 - 23821523	Oct 12, 2018 (152)
79	A Vietnamese Genetic Variation Database	NC_000004.11 - 23821523	Jul 13, 2019 (153)
80	ALFA	NC_000004.12 - 23819900	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)
rs17636592	Oct 07, 2004 (123)
rs56853161	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
345447, ss116910818, ss166296472, ss277614777, ss1397369841, ss1589365159, ss2136717946	NC_000004.10:23430620:C:T	NC_000004.12:23819899:C:T	(self)
20194570, 11251319, 7953050, 6622851, 4952407, 11771386, 4230980, 284338, 74421, 5151019, 10451664, 2757322, 22615282, 11251319, 2462445, ss220799123, ss232300257, ss239613115, ss557376149, ss651145451, ss979873938, ss1071355782, ss1308832638, ss1429806811, ss1580457912, ss1609623994, ss1652618027, ss1801130571, ss1923109089, ss1969683897, ss2022131735, ss2150240968, ss2625566591, ss2705689535, ss2806747935, ss2994302093, ss3345593487, ss3662214802, ss3730946115, ss3761525053, ss3828422066, ss3837644949, ss3858434684, ss3904593992, ss3984525062, ss3985058411, ss5164645975, ss5507425271, ss5634553563, ss5843689156, ss5962937687	NC_000004.11:23821522:C:T	NC_000004.12:23819899:C:T	(self)
143086509, 2575541, 32253711, 443611086, 14506724899, ss2261221840, ss3024834817, ss3711607051, ss3804655835, ss3843079447, ss4606233530, ss5258396135, ss5457259184, ss5698416607, ss5804848717, ss5854123355, ss5862548044	NC_000004.12:23819899:C:T	NC_000004.12:23819899:C:T	(self)
ss4183924, ss24372365, ss44560188, ss68893604, ss79313443	NT_006316.16:15003319:C:T	NC_000004.12:23819899:C:T	(self)

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

2 citations for rs2970852

PMID	Title	Author	Year	Journal
24317794	Common variation at PPARGC1A/B and change in body composition and metabolic traits following preventive interventions: the Diabetes Prevention Program.	Franks PW et al.	2014	Diabetologia
27432166	Evaluation of differential effects of metformin treatment in obese children according to pubertal stage and genetic variations: study protocol for a randomized controlled trial.	Pastor-Villaescusa B et al.	2016	Trials

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

rs2970852