Name: rs2526272
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.

rs2526272

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:3003911 (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>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.293955 (77807/264690, TOPMED)
G=0.46415 (13115/28256, 14KJPN)
G=0.45978 (7705/16758, 8.3KJPN) (+ 13 more)
G=0.4621 (3850/8332, ALFA)
G=0.2942 (1884/6404, 1000G_30x)
G=0.3003 (1504/5008, 1000G)
G=0.3674 (1646/4480, Estonian)
G=0.3708 (1429/3854, ALSPAC)
G=0.3703 (1373/3708, TWINSUK)
G=0.4337 (1269/2926, KOREAN)
G=0.4549 (827/1818, Korea1K)
G=0.352 (211/600, NorthernSweden)
G=0.222 (105/472, SGDP_PRJ)
G=0.380 (82/216, Qatari)
G=0.36 (16/44, Siberian)
G=0.28 (11/40, GENOME_DK)

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	8332	G=0.4621	C=0.0000, T=0.5379
European	Sub	7660	G=0.4508	C=0.0000, T=0.5492
African	Sub	156	G=0.237	C=0.000, T=0.763
African Others	Sub	6	G=0.0	C=0.0, T=1.0
African American	Sub	150	G=0.247	C=0.000, T=0.753
Asian	Sub	30	G=0.90	C=0.00, T=0.10
East Asian	Sub	22	G=0.95	C=0.00, T=0.05
Other Asian	Sub	8	G=0.8	C=0.0, T=0.2
Latin American 1	Sub	22	G=1.00	C=0.00, T=0.00
Latin American 2	Sub	156	G=1.000	C=0.000, T=0.000
South Asian	Sub	24	G=0.88	C=0.00, T=0.12
Other	Sub	284	G=0.472	C=0.000, T=0.528

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=0.293955	T=0.706045
14KJPN	JAPANESE	Study-wide	28256	G=0.46415	T=0.53585
8.3KJPN	JAPANESE	Study-wide	16758	G=0.45978	T=0.54022
Allele Frequency Aggregator	Total	Global	8332	G=0.4621	C=0.0000, T=0.5379
Allele Frequency Aggregator	European	Sub	7660	G=0.4508	C=0.0000, T=0.5492
Allele Frequency Aggregator	Other	Sub	284	G=0.472	C=0.000, T=0.528
Allele Frequency Aggregator	Latin American 2	Sub	156	G=1.000	C=0.000, T=0.000
Allele Frequency Aggregator	African	Sub	156	G=0.237	C=0.000, T=0.763
Allele Frequency Aggregator	Asian	Sub	30	G=0.90	C=0.00, T=0.10
Allele Frequency Aggregator	South Asian	Sub	24	G=0.88	C=0.00, T=0.12
Allele Frequency Aggregator	Latin American 1	Sub	22	G=1.00	C=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.2942	C=0.0002, T=0.7057
1000Genomes_30x	African	Sub	1786	G=0.0431	C=0.0006, T=0.9563
1000Genomes_30x	Europe	Sub	1266	G=0.3626	C=0.0000, T=0.6374
1000Genomes_30x	South Asian	Sub	1202	G=0.3278	C=0.0000, T=0.6722
1000Genomes_30x	East Asian	Sub	1170	G=0.4829	C=0.0000, T=0.5171
1000Genomes_30x	American	Sub	980	G=0.397	C=0.000, T=0.603
1000Genomes	Global	Study-wide	5008	G=0.3003	T=0.6997
1000Genomes	African	Sub	1322	G=0.0477	T=0.9523
1000Genomes	East Asian	Sub	1008	G=0.4792	T=0.5208
1000Genomes	Europe	Sub	1006	G=0.3738	T=0.6262
1000Genomes	South Asian	Sub	978	G=0.319	T=0.681
1000Genomes	American	Sub	694	G=0.389	T=0.611
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3674	T=0.6326
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3708	T=0.6292
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3703	T=0.6297
KOREAN population from KRGDB	KOREAN	Study-wide	2926	G=0.4337	T=0.5663
Korean Genome Project	KOREAN	Study-wide	1818	G=0.4549	T=0.5451
Northern Sweden	ACPOP	Study-wide	600	G=0.352	T=0.648
SGDP_PRJ	Global	Study-wide	472	G=0.222	T=0.778
Qatari	Global	Study-wide	216	G=0.380	T=0.620
Siberian	Global	Study-wide	44	G=0.36	T=0.64
The Danish reference pan genome	Danish	Study-wide	40	G=0.28	T=0.72

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 16	NC_000016.10:g.3003911G>C
GRCh38.p14 chr 16	NC_000016.10:g.3003911G>T
GRCh37.p13 chr 16	NC_000016.9:g.3053912G>C
GRCh37.p13 chr 16	NC_000016.9:g.3053912G>T
LOC113939950 genomic region	NG_063735.1:g.144G>C
LOC113939950 genomic region	NG_063735.1:g.144G>T

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=	C	T
GRCh38.p14 chr 16	NC_000016.10:g.3003911=	NC_000016.10:g.3003911G>C	NC_000016.10:g.3003911G>T
GRCh37.p13 chr 16	NC_000016.9:g.3053912=	NC_000016.9:g.3053912G>C	NC_000016.9:g.3053912G>T
LOC113939950 genomic region	NG_063735.1:g.144=	NG_063735.1:g.144G>C	NG_063735.1:g.144G>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#.

70 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3541103	Sep 28, 2001 (100)
2	SSAHASNP	ss21300560	Apr 05, 2004 (121)
3	ABI	ss43844453	Mar 14, 2006 (126)
4	HGSV	ss80390940	Dec 15, 2007 (130)
5	HGSV	ss85718212	Dec 15, 2007 (130)
6	BCMHGSC_JDW	ss90290230	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss96618441	Feb 06, 2009 (130)
8	BGI	ss103272537	Dec 01, 2009 (131)
9	1000GENOMES	ss109125945	Jan 23, 2009 (130)
10	1000GENOMES	ss114718497	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss118157760	Feb 14, 2009 (130)
12	ENSEMBL	ss136547990	Dec 01, 2009 (131)
13	ENSEMBL	ss136761048	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss167655080	Jul 04, 2010 (132)
15	BUSHMAN	ss201332435	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss207663510	Jul 04, 2010 (132)
17	1000GENOMES	ss227098554	Jul 14, 2010 (132)
18	1000GENOMES	ss236922256	Jul 15, 2010 (132)
19	1000GENOMES	ss243282644	Jul 15, 2010 (132)
20	BL	ss255439740	May 09, 2011 (134)
21	GMI	ss282406945	May 04, 2012 (137)
22	PJP	ss291835332	May 09, 2011 (134)
23	SSMP	ss660474042	Apr 25, 2013 (138)
24	EVA-GONL	ss992200698	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1080423458	Aug 21, 2014 (142)
26	1000GENOMES	ss1355067173	Aug 21, 2014 (142)
27	DDI	ss1427752605	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1577800627	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1633841258	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1676835291	Apr 01, 2015 (144)
31	EVA_DECODE	ss1696233348	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1808382880	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1935608965	Feb 12, 2016 (147)
34	GENOMED	ss1968200592	Jul 19, 2016 (147)
35	JJLAB	ss2028590398	Sep 14, 2016 (149)
36	USC_VALOUEV	ss2157001222	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2209991463	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2628789333	Nov 08, 2017 (151)
39	GRF	ss2701494508	Nov 08, 2017 (151)
40	GNOMAD	ss2939459168	Nov 08, 2017 (151)
41	SWEGEN	ss3013941157	Nov 08, 2017 (151)
42	CSHL	ss3351298595	Nov 08, 2017 (151)
43	URBANLAB	ss3650445811	Oct 12, 2018 (152)
44	EGCUT_WGS	ss3681065304	Jul 13, 2019 (153)
45	EVA_DECODE	ss3698687159	Jul 13, 2019 (153)
46	ACPOP	ss3741269485	Jul 13, 2019 (153)
47	EVA	ss3753587003	Jul 13, 2019 (153)
48	PACBIO	ss3787959340	Jul 13, 2019 (153)
49	PACBIO	ss3792954760	Jul 13, 2019 (153)
50	PACBIO	ss3797839665	Jul 13, 2019 (153)
51	KHV_HUMAN_GENOMES	ss3818886817	Jul 13, 2019 (153)
52	EVA	ss3834434790	Apr 27, 2020 (154)
53	EVA	ss3840821676	Apr 27, 2020 (154)
54	EVA	ss3846312385	Apr 27, 2020 (154)
55	SGDP_PRJ	ss3883775623	Apr 27, 2020 (154)
56	KRGDB	ss3933055430	Apr 27, 2020 (154)
57	KOGIC	ss3976969416	Apr 27, 2020 (154)
58	TOPMED	ss5005174049	Apr 26, 2021 (155)
59	TOMMO_GENOMICS	ss5218071802	Apr 26, 2021 (155)
60	1000G_HIGH_COVERAGE	ss5299860465	Oct 17, 2022 (156)
61	EVA	ss5421820398	Oct 17, 2022 (156)
62	HUGCELL_USP	ss5493416374	Oct 17, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5601957796	Oct 17, 2022 (156)
64	SANFORD_IMAGENETICS	ss5658309791	Oct 17, 2022 (156)
65	TOMMO_GENOMICS	ss5772447370	Oct 17, 2022 (156)
66	YY_MCH	ss5815690917	Oct 17, 2022 (156)
67	EVA	ss5845997624	Oct 17, 2022 (156)
68	EVA	ss5851457590	Oct 17, 2022 (156)
69	EVA	ss5897972101	Oct 17, 2022 (156)
70	EVA	ss5949733156	Oct 17, 2022 (156)
71	1000Genomes	NC_000016.9 - 3053912	Oct 12, 2018 (152)
72	1000Genomes_30x	NC_000016.10 - 3003911	Oct 17, 2022 (156)
73	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 3053912	Oct 12, 2018 (152)
74	Genetic variation in the Estonian population	NC_000016.9 - 3053912	Oct 12, 2018 (152)
75	The Danish reference pan genome	NC_000016.9 - 3053912	Apr 27, 2020 (154)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 480638614 (NC_000016.10:3003910:G:C 1/140174) Row 480638615 (NC_000016.10:3003910:G:T 99030/140134)	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 480638614 (NC_000016.10:3003910:G:C 1/140174) Row 480638615 (NC_000016.10:3003910:G:T 99030/140134)	-	Apr 26, 2021 (155)
78	KOREAN population from KRGDB	NC_000016.9 - 3053912	Apr 27, 2020 (154)
79	Korean Genome Project	NC_000016.10 - 3003911	Apr 27, 2020 (154)
80	Northern Sweden	NC_000016.9 - 3053912	Jul 13, 2019 (153)
81	Qatari	NC_000016.9 - 3053912	Apr 27, 2020 (154)
82	SGDP_PRJ	NC_000016.9 - 3053912	Apr 27, 2020 (154)
83	Siberian	NC_000016.9 - 3053912	Apr 27, 2020 (154)
84	8.3KJPN	NC_000016.9 - 3053912	Apr 26, 2021 (155)
85	14KJPN	NC_000016.10 - 3003911	Oct 17, 2022 (156)
86	TopMed	NC_000016.10 - 3003911	Apr 26, 2021 (155)
87	UK 10K study - Twins	NC_000016.9 - 3053912	Oct 12, 2018 (152)
88	ALFA	NC_000016.10 - 3003911	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)
rs60489039	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
89483731, 3112046944, ss5601957796	NC_000016.10:3003910:G:C	NC_000016.10:3003910:G:C	(self)
ss80390940, ss85718212, ss90290230, ss109125945, ss114718497, ss118157760, ss167655080, ss201332435, ss207663510, ss255439740, ss282406945, ss291835332, ss1696233348	NC_000016.8:2993912:G:T	NC_000016.10:3003910:G:T	(self)
68194914, 37862789, 26803552, 4017610, 40232824, 14554350, 17650887, 35792603, 9517576, 76041109, 37862789, ss227098554, ss236922256, ss243282644, ss660474042, ss992200698, ss1080423458, ss1355067173, ss1427752605, ss1577800627, ss1633841258, ss1676835291, ss1808382880, ss1935608965, ss1968200592, ss2028590398, ss2157001222, ss2628789333, ss2701494508, ss2939459168, ss3013941157, ss3351298595, ss3681065304, ss3741269485, ss3753587003, ss3787959340, ss3792954760, ss3797839665, ss3834434790, ss3840821676, ss3883775623, ss3933055430, ss5218071802, ss5421820398, ss5658309791, ss5845997624, ss5949733156	NC_000016.9:3053911:G:T	NC_000016.10:3003910:G:T	(self)
89483731, 33347417, 106284474, 220719710, 3112046944, ss2209991463, ss3650445811, ss3698687159, ss3818886817, ss3846312385, ss3976969416, ss5005174049, ss5299860465, ss5493416374, ss5601957796, ss5772447370, ss5815690917, ss5851457590, ss5897972101	NC_000016.10:3003910:G:T	NC_000016.10:3003910:G:T	(self)
ss3541103, ss43844453, ss96618441, ss103272537, ss136547990, ss136761048	NT_010393.16:2993911:G:T	NC_000016.10:3003910:G:T	(self)
ss21300560	NT_010552.13:395337:G:T	NC_000016.10:3003910:G: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 rs2526272

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

rs2526272