Name: rs11688767
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.

rs11688767

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:57761059 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.389524 (103103/264690, TOPMED)
T=0.396558 (55526/140020, GnomAD)
T=0.47201 (13338/28258, 14KJPN) (+ 16 more)
T=0.42112 (7955/18890, ALFA)
T=0.47584 (7975/16760, 8.3KJPN)
T=0.3531 (2261/6404, 1000G_30x)
T=0.3544 (1775/5008, 1000G)
T=0.4174 (1870/4480, Estonian)
T=0.4868 (1876/3854, ALSPAC)
T=0.4924 (1826/3708, TWINSUK)
A=0.4997 (1464/2930, KOREAN)
A=0.4760 (872/1832, Korea1K)
T=0.453 (452/998, GoNL)
T=0.430 (258/600, NorthernSweden)
A=0.331 (102/308, SGDP_PRJ)
T=0.449 (97/216, Qatari)
T=0.220 (47/214, Vietnamese)
T=0.47 (19/40, GENOME_DK)
A=0.38 (13/34, 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	18890	A=0.57888	T=0.42112	0.341451	0.183695	0.474854	4
European	Sub	14286	A=0.53073	T=0.46927	0.280554	0.219096	0.50035	0
African	Sub	2946	A=0.7868	T=0.2132	0.610998	0.037339	0.351663	2
African Others	Sub	114	A=0.886	T=0.114	0.789474	0.017544	0.192982	0
African American	Sub	2832	A=0.7828	T=0.2172	0.603814	0.038136	0.358051	3
Asian	Sub	112	A=0.598	T=0.402	0.357143	0.160714	0.482143	0
East Asian	Sub	86	A=0.59	T=0.41	0.348837	0.162791	0.488372	0
Other Asian	Sub	26	A=0.62	T=0.38	0.384615	0.153846	0.461538	0
Latin American 1	Sub	146	A=0.548	T=0.452	0.273973	0.178082	0.547945	1
Latin American 2	Sub	610	A=0.662	T=0.338	0.429508	0.104918	0.465574	0
South Asian	Sub	98	A=0.66	T=0.34	0.469388	0.142857	0.387755	1
Other	Sub	692	A=0.605	T=0.395	0.367052	0.156069	0.476879	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	A=0.610476	T=0.389524
gnomAD - Genomes	Global	Study-wide	140020	A=0.603442	T=0.396558
gnomAD - Genomes	European	Sub	75820	A=0.51736	T=0.48264
gnomAD - Genomes	African	Sub	41958	A=0.77804	T=0.22196
gnomAD - Genomes	American	Sub	13640	A=0.58431	T=0.41569
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.4407	T=0.5593
gnomAD - Genomes	East Asian	Sub	3126	A=0.6155	T=0.3845
gnomAD - Genomes	Other	Sub	2152	A=0.5874	T=0.4126
14KJPN	JAPANESE	Study-wide	28258	A=0.52799	T=0.47201
Allele Frequency Aggregator	Total	Global	18890	A=0.57888	T=0.42112
Allele Frequency Aggregator	European	Sub	14286	A=0.53073	T=0.46927
Allele Frequency Aggregator	African	Sub	2946	A=0.7868	T=0.2132
Allele Frequency Aggregator	Other	Sub	692	A=0.605	T=0.395
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.662	T=0.338
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.548	T=0.452
Allele Frequency Aggregator	Asian	Sub	112	A=0.598	T=0.402
Allele Frequency Aggregator	South Asian	Sub	98	A=0.66	T=0.34
8.3KJPN	JAPANESE	Study-wide	16760	A=0.52416	T=0.47584
1000Genomes_30x	Global	Study-wide	6404	A=0.6469	T=0.3531
1000Genomes_30x	African	Sub	1786	A=0.8180	T=0.1820
1000Genomes_30x	Europe	Sub	1266	A=0.5276	T=0.4724
1000Genomes_30x	South Asian	Sub	1202	A=0.6248	T=0.3752
1000Genomes_30x	East Asian	Sub	1170	A=0.6231	T=0.3769
1000Genomes_30x	American	Sub	980	A=0.545	T=0.455
1000Genomes	Global	Study-wide	5008	A=0.6456	T=0.3544
1000Genomes	African	Sub	1322	A=0.8200	T=0.1800
1000Genomes	East Asian	Sub	1008	A=0.6280	T=0.3720
1000Genomes	Europe	Sub	1006	A=0.5298	T=0.4702
1000Genomes	South Asian	Sub	978	A=0.619	T=0.381
1000Genomes	American	Sub	694	A=0.545	T=0.455
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5826	T=0.4174
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5132	T=0.4868
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5076	T=0.4924
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4997	G=0.0000, T=0.5003
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4760	T=0.5240
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.547	T=0.453
Northern Sweden	ACPOP	Study-wide	600	A=0.570	T=0.430
SGDP_PRJ	Global	Study-wide	308	A=0.331	T=0.669
Qatari	Global	Study-wide	216	A=0.551	T=0.449
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.780	T=0.220
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	T=0.47
Siberian	Global	Study-wide	34	A=0.38	T=0.62

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.57761059A>G
GRCh38.p14 chr 2	NC_000002.12:g.57761059A>T
GRCh37.p13 chr 2	NC_000002.11:g.57988194A>G
GRCh37.p13 chr 2	NC_000002.11:g.57988194A>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	A=	G	T
GRCh38.p14 chr 2	NC_000002.12:g.57761059=	NC_000002.12:g.57761059A>G	NC_000002.12:g.57761059A>T
GRCh37.p13 chr 2	NC_000002.11:g.57988194=	NC_000002.11:g.57988194A>G	NC_000002.11:g.57988194A>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#.

67 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16858662	Feb 28, 2004 (120)
2	SSAHASNP	ss21627721	Apr 05, 2004 (121)
3	ABI	ss44358681	Mar 14, 2006 (126)
4	BCMHGSC_JDW	ss91177157	Mar 24, 2008 (129)
5	HUMANGENOME_JCVI	ss96399476	Feb 06, 2009 (130)
6	1000GENOMES	ss109553739	Jan 24, 2009 (130)
7	ENSEMBL	ss135843759	Dec 01, 2009 (131)
8	ENSEMBL	ss138451242	Dec 01, 2009 (131)
9	GMI	ss157111485	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss164470435	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss205745573	Jul 04, 2010 (132)
12	1000GENOMES	ss219272234	Jul 14, 2010 (132)
13	1000GENOMES	ss231187086	Jul 14, 2010 (132)
14	1000GENOMES	ss238737558	Jul 15, 2010 (132)
15	GMI	ss276487440	May 04, 2012 (137)
16	GMI	ss284354091	Apr 25, 2013 (138)
17	PJP	ss292277024	May 09, 2011 (134)
18	TISHKOFF	ss555594983	Apr 25, 2013 (138)
19	SSMP	ss649180758	Apr 25, 2013 (138)
20	EVA-GONL	ss976878147	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1069151928	Aug 21, 2014 (142)
22	1000GENOMES	ss1297398085	Aug 21, 2014 (142)
23	DDI	ss1428591768	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1578898534	Apr 01, 2015 (144)
25	EVA_DECODE	ss1586290330	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1603603194	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1646597227	Apr 01, 2015 (144)
28	HAMMER_LAB	ss1796811406	Sep 08, 2015 (146)
29	WEILL_CORNELL_DGM	ss1920111753	Feb 12, 2016 (147)
30	GENOMED	ss1968781567	Jul 19, 2016 (147)
31	JJLAB	ss2020590106	Sep 14, 2016 (149)
32	USC_VALOUEV	ss2148633888	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2230626689	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2624806161	Nov 08, 2017 (151)
35	GRF	ss2703202619	Nov 08, 2017 (151)
36	GNOMAD	ss2773920855	Nov 08, 2017 (151)
37	SWEGEN	ss2989568147	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3024062001	Nov 08, 2017 (151)
39	CSHL	ss3344249179	Nov 08, 2017 (151)
40	URBANLAB	ss3647042009	Oct 11, 2018 (152)
41	EGCUT_WGS	ss3657541408	Jul 13, 2019 (153)
42	EVA_DECODE	ss3703967858	Jul 13, 2019 (153)
43	ACPOP	ss3728469265	Jul 13, 2019 (153)
44	EVA	ss3756808894	Jul 13, 2019 (153)
45	PACBIO	ss3783872872	Jul 13, 2019 (153)
46	PACBIO	ss3789458941	Jul 13, 2019 (153)
47	PACBIO	ss3794331860	Jul 13, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3801181823	Jul 13, 2019 (153)
49	EVA	ss3827002726	Apr 25, 2020 (154)
50	EVA	ss3836911422	Apr 25, 2020 (154)
51	EVA	ss3842327119	Apr 25, 2020 (154)
52	SGDP_PRJ	ss3852352043	Apr 25, 2020 (154)
53	KRGDB	ss3897824037	Apr 25, 2020 (154)
54	KOGIC	ss3947825302	Apr 25, 2020 (154)
55	TOPMED	ss4507080851	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5151533477	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5248193922	Oct 12, 2022 (156)
58	HUGCELL_USP	ss5448386583	Oct 12, 2022 (156)
59	EVA	ss5506424538	Oct 12, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5523485952	Oct 12, 2022 (156)
61	SANFORD_IMAGENETICS	ss5628819673	Oct 12, 2022 (156)
62	TOMMO_GENOMICS	ss5680204137	Oct 12, 2022 (156)
63	YY_MCH	ss5802238080	Oct 12, 2022 (156)
64	EVA	ss5820150616	Oct 12, 2022 (156)
65	EVA	ss5852538959	Oct 12, 2022 (156)
66	EVA	ss5930520176	Oct 12, 2022 (156)
67	EVA	ss5955054294	Oct 12, 2022 (156)
68	1000Genomes	NC_000002.11 - 57988194	Oct 11, 2018 (152)
69	1000Genomes_30x	NC_000002.12 - 57761059	Oct 12, 2022 (156)
70	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 57988194	Oct 11, 2018 (152)
71	Genetic variation in the Estonian population	NC_000002.11 - 57988194	Oct 11, 2018 (152)
72	The Danish reference pan genome	NC_000002.11 - 57988194	Apr 25, 2020 (154)
73	gnomAD - Genomes	NC_000002.12 - 57761059	Apr 26, 2021 (155)
74	Genome of the Netherlands Release 5	NC_000002.11 - 57988194	Apr 25, 2020 (154)
75	KOREAN population from KRGDB	NC_000002.11 - 57988194	Apr 25, 2020 (154)
76	Korean Genome Project	NC_000002.12 - 57761059	Apr 25, 2020 (154)
77	Northern Sweden	NC_000002.11 - 57988194	Jul 13, 2019 (153)
78	Qatari	NC_000002.11 - 57988194	Apr 25, 2020 (154)
79	SGDP_PRJ	NC_000002.11 - 57988194	Apr 25, 2020 (154)
80	Siberian	NC_000002.11 - 57988194	Apr 25, 2020 (154)
81	8.3KJPN	NC_000002.11 - 57988194	Apr 26, 2021 (155)
82	14KJPN	NC_000002.12 - 57761059	Oct 12, 2022 (156)
83	TopMed	NC_000002.12 - 57761059	Apr 26, 2021 (155)
84	UK 10K study - Twins	NC_000002.11 - 57988194	Oct 11, 2018 (152)
85	A Vietnamese Genetic Variation Database	NC_000002.11 - 57988194	Jul 13, 2019 (153)
86	ALFA	NC_000002.12 - 57761059	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
5001431, ss3897824037	NC_000002.11:57988193:A:G	NC_000002.12:57761058:A:G	(self)
ss91177157, ss109553739, ss164470435, ss205745573, ss276487440, ss284354091, ss292277024, ss1586290330	NC_000002.10:57841697:A:T	NC_000002.12:57761058:A:T	(self)
8347368, 4640875, 3279656, 5070139, 2041039, 5001431, 1754130, 2153683, 4369023, 1150242, 9502784, 4640875, 1009578, ss219272234, ss231187086, ss238737558, ss555594983, ss649180758, ss976878147, ss1069151928, ss1297398085, ss1428591768, ss1578898534, ss1603603194, ss1646597227, ss1796811406, ss1920111753, ss1968781567, ss2020590106, ss2148633888, ss2624806161, ss2703202619, ss2773920855, ss2989568147, ss3344249179, ss3657541408, ss3728469265, ss3756808894, ss3783872872, ss3789458941, ss3794331860, ss3827002726, ss3836911422, ss3852352043, ss3897824037, ss5151533477, ss5506424538, ss5628819673, ss5820150616, ss5955054294	NC_000002.11:57988193:A:T	NC_000002.12:57761058:A:T	(self)
11011887, 59239159, 4203303, 14041241, 310903730, 9939492526, ss2230626689, ss3024062001, ss3647042009, ss3703967858, ss3801181823, ss3842327119, ss3947825302, ss4507080851, ss5248193922, ss5448386583, ss5523485952, ss5680204137, ss5802238080, ss5852538959, ss5930520176	NC_000002.12:57761058:A:T	NC_000002.12:57761058:A:T	(self)
ss16858662, ss21627721	NT_022184.13:36804125:A:T	NC_000002.12:57761058:A:T	(self)
ss44358681, ss96399476, ss135843759, ss138451242, ss157111485	NT_022184.15:36810080:A:T	NC_000002.12:57761058:A: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 rs11688767

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

rs11688767