Name: rs11264454
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.

rs11264454

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:156183252 (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>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.497831 (131771/264690, TOPMED)
A=0.493192 (68389/138666, GnomAD)
G=0.15521 (4384/28246, 14KJPN) (+ 14 more)
G=0.46048 (8272/17964, ALFA)
G=0.15736 (2637/16758, 8.3KJPN)
G=0.4329 (2772/6404, 1000G_30x)
G=0.4165 (2086/5008, 1000G)
G=0.4344 (1946/4480, Estonian)
G=0.4372 (1685/3854, ALSPAC)
G=0.4409 (1635/3708, TWINSUK)
G=0.1362 (399/2930, KOREAN)
G=0.434 (433/998, GoNL)
G=0.402 (241/600, NorthernSweden)
A=0.355 (108/304, SGDP_PRJ)
A=0.486 (105/216, Qatari)
G=0.42 (17/40, GENOME_DK)
A=0.32 (11/34, 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	17964	A=0.53952	G=0.46048, T=0.00000
European	Sub	13838	A=0.57219	G=0.42781, T=0.00000
African	Sub	2472	A=0.3220	G=0.6780, T=0.0000
African Others	Sub	92	A=0.29	G=0.71, T=0.00
African American	Sub	2380	A=0.3231	G=0.6769, T=0.0000
Asian	Sub	112	A=0.920	G=0.080, T=0.000
East Asian	Sub	86	A=0.93	G=0.07, T=0.00
Other Asian	Sub	26	A=0.88	G=0.12, T=0.00
Latin American 1	Sub	146	A=0.486	G=0.514, T=0.000
Latin American 2	Sub	610	A=0.618	G=0.382, T=0.000
South Asian	Sub	98	A=0.60	G=0.40, T=0.00
Other	Sub	688	A=0.535	G=0.465, T=0.000

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=0.502169	G=0.497831
gnomAD - Genomes	Global	Study-wide	138666	A=0.493192	G=0.506808
gnomAD - Genomes	European	Sub	75052	A=0.56380	G=0.43620
gnomAD - Genomes	African	Sub	41636	A=0.30236	G=0.69764
gnomAD - Genomes	American	Sub	13468	A=0.57900	G=0.42100
gnomAD - Genomes	Ashkenazi Jewish	Sub	3304	A=0.5705	G=0.4295
gnomAD - Genomes	East Asian	Sub	3076	A=0.8742	G=0.1258
gnomAD - Genomes	Other	Sub	2130	A=0.5230	G=0.4770
14KJPN	JAPANESE	Study-wide	28246	A=0.84479	G=0.15521
Allele Frequency Aggregator	Total	Global	17964	A=0.53952	G=0.46048, T=0.00000
Allele Frequency Aggregator	European	Sub	13838	A=0.57219	G=0.42781, T=0.00000
Allele Frequency Aggregator	African	Sub	2472	A=0.3220	G=0.6780, T=0.0000
Allele Frequency Aggregator	Other	Sub	688	A=0.535	G=0.465, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.618	G=0.382, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.486	G=0.514, T=0.000
Allele Frequency Aggregator	Asian	Sub	112	A=0.920	G=0.080, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	A=0.60	G=0.40, T=0.00
8.3KJPN	JAPANESE	Study-wide	16758	A=0.84264	G=0.15736
1000Genomes_30x	Global	Study-wide	6404	A=0.5671	G=0.4329
1000Genomes_30x	African	Sub	1786	A=0.2424	G=0.7576
1000Genomes_30x	Europe	Sub	1266	A=0.5758	G=0.4242
1000Genomes_30x	South Asian	Sub	1202	A=0.7022	G=0.2978
1000Genomes_30x	East Asian	Sub	1170	A=0.8803	G=0.1197
1000Genomes_30x	American	Sub	980	A=0.608	G=0.392
1000Genomes	Global	Study-wide	5008	A=0.5835	G=0.4165
1000Genomes	African	Sub	1322	A=0.2489	G=0.7511
1000Genomes	East Asian	Sub	1008	A=0.8909	G=0.1091
1000Genomes	Europe	Sub	1006	A=0.5716	G=0.4284
1000Genomes	South Asian	Sub	978	A=0.710	G=0.290
1000Genomes	American	Sub	694	A=0.614	G=0.386
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5656	G=0.4344
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5628	G=0.4372
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5591	G=0.4409
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.8638	G=0.1362
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.566	G=0.434
Northern Sweden	ACPOP	Study-wide	600	A=0.598	G=0.402
SGDP_PRJ	Global	Study-wide	304	A=0.355	G=0.645
Qatari	Global	Study-wide	216	A=0.486	G=0.514
The Danish reference pan genome	Danish	Study-wide	40	A=0.57	G=0.42
Siberian	Global	Study-wide	34	A=0.32	G=0.68

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 1	NC_000001.11:g.156183252A>C
GRCh38.p14 chr 1	NC_000001.11:g.156183252A>G
GRCh38.p14 chr 1	NC_000001.11:g.156183252A>T
GRCh37.p13 chr 1	NC_000001.10:g.156153043A>C
GRCh37.p13 chr 1	NC_000001.10:g.156153043A>G
GRCh37.p13 chr 1	NC_000001.10:g.156153043A>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=	C	G	T
GRCh38.p14 chr 1	NC_000001.11:g.156183252=	NC_000001.11:g.156183252A>C	NC_000001.11:g.156183252A>G	NC_000001.11:g.156183252A>T
GRCh37.p13 chr 1	NC_000001.10:g.156153043=	NC_000001.10:g.156153043A>C	NC_000001.10:g.156153043A>G	NC_000001.10:g.156153043A>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#.

58 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18176372	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss19125999	Feb 27, 2004 (120)
3	ABI	ss41155112	Mar 13, 2006 (126)
4	HGSV	ss84640173	Dec 14, 2007 (130)
5	HUMANGENOME_JCVI	ss99251781	Feb 04, 2009 (130)
6	ENSEMBL	ss131696512	Dec 01, 2009 (131)
7	BUSHMAN	ss199096429	Jul 04, 2010 (132)
8	1000GENOMES	ss238381620	Jul 15, 2010 (132)
9	BL	ss253514698	May 09, 2011 (134)
10	GMI	ss276053854	May 04, 2012 (137)
11	GMI	ss284153899	Apr 25, 2013 (138)
12	PJP	ss290638515	May 09, 2011 (134)
13	TISHKOFF	ss554712446	Apr 25, 2013 (138)
14	SSMP	ss648419426	Apr 25, 2013 (138)
15	EVA-GONL	ss975691800	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1068275012	Aug 21, 2014 (142)
17	1000GENOMES	ss1292965037	Aug 21, 2014 (142)
18	DDI	ss1425980731	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1574396453	Apr 01, 2015 (144)
20	EVA_DECODE	ss1585073631	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1601233779	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1644227812	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1795103182	Sep 08, 2015 (146)
24	WEILL_CORNELL_DGM	ss1918925365	Feb 12, 2016 (147)
25	JJLAB	ss2019977711	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2148003312	Dec 20, 2016 (150)
27	HUMAN_LONGEVITY	ss2166624534	Dec 20, 2016 (150)
28	GRF	ss2697975887	Nov 08, 2017 (151)
29	GNOMAD	ss2761440740	Nov 08, 2017 (151)
30	SWEGEN	ss2987768833	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3023745732	Nov 08, 2017 (151)
32	CSHL	ss3343714139	Nov 08, 2017 (151)
33	URBANLAB	ss3646793066	Oct 11, 2018 (152)
34	EGCUT_WGS	ss3655707911	Jul 12, 2019 (153)
35	EVA_DECODE	ss3687802314	Jul 12, 2019 (153)
36	ACPOP	ss3727492949	Jul 12, 2019 (153)
37	EVA	ss3746819177	Jul 12, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3799819231	Jul 12, 2019 (153)
39	EVA	ss3826428177	Apr 25, 2020 (154)
40	EVA	ss3836608624	Apr 25, 2020 (154)
41	EVA	ss3842017901	Apr 25, 2020 (154)
42	SGDP_PRJ	ss3850025381	Apr 25, 2020 (154)
43	KRGDB	ss3895240067	Apr 25, 2020 (154)
44	KOGIC	ss3945674416	Apr 25, 2020 (154)
45	KOGIC	ss3945674417	Apr 25, 2020 (154)
46	TOPMED	ss4468683108	Apr 25, 2021 (155)
47	TOMMO_GENOMICS	ss5146535653	Apr 25, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5244328141	Oct 12, 2022 (156)
49	EVA	ss5322115289	Oct 12, 2022 (156)
50	HUGCELL_USP	ss5444917012	Oct 12, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5517674238	Oct 12, 2022 (156)
52	SANFORD_IMAGENETICS	ss5626609536	Oct 12, 2022 (156)
53	TOMMO_GENOMICS	ss5673749909	Oct 12, 2022 (156)
54	YY_MCH	ss5801267715	Oct 12, 2022 (156)
55	EVA	ss5832678203	Oct 12, 2022 (156)
56	EVA	ss5849111656	Oct 12, 2022 (156)
57	EVA	ss5910283875	Oct 12, 2022 (156)
58	EVA	ss5938403785	Oct 12, 2022 (156)
59	1000Genomes	NC_000001.10 - 156153043	Oct 11, 2018 (152)
60	1000Genomes_30x	NC_000001.11 - 156183252	Oct 12, 2022 (156)
61	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 156153043	Oct 11, 2018 (152)
62	Genetic variation in the Estonian population	NC_000001.10 - 156153043	Oct 11, 2018 (152)
63	The Danish reference pan genome	NC_000001.10 - 156153043	Apr 25, 2020 (154)
64	gnomAD - Genomes	NC_000001.11 - 156183252	Apr 25, 2021 (155)
65	Genome of the Netherlands Release 5	NC_000001.10 - 156153043	Apr 25, 2020 (154)
66	KOREAN population from KRGDB	NC_000001.10 - 156153043	Apr 25, 2020 (154)
67	Korean Genome Project Submission ignored due to conflicting rows: Row 2052417 (NC_000001.11:156183251:A:G 262/1832) Row 2052418 (NC_000001.11:156183251:A:C 4/1832)	-	Apr 25, 2020 (154)
68	Korean Genome Project Submission ignored due to conflicting rows: Row 2052417 (NC_000001.11:156183251:A:G 262/1832) Row 2052418 (NC_000001.11:156183251:A:C 4/1832)	-	Apr 25, 2020 (154)
69	Northern Sweden	NC_000001.10 - 156153043	Jul 12, 2019 (153)
70	Qatari	NC_000001.10 - 156153043	Apr 25, 2020 (154)
71	SGDP_PRJ	NC_000001.10 - 156153043	Apr 25, 2020 (154)
72	Siberian	NC_000001.10 - 156153043	Apr 25, 2020 (154)
73	8.3KJPN	NC_000001.10 - 156153043	Apr 25, 2021 (155)
74	14KJPN	NC_000001.11 - 156183252	Oct 12, 2022 (156)
75	TopMed	NC_000001.11 - 156183252	Apr 25, 2021 (155)
76	UK 10K study - Twins	NC_000001.10 - 156153043	Oct 11, 2018 (152)
77	ALFA	NC_000001.11 - 156183252	Apr 25, 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)
rs57497733	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3945674417	NC_000001.11:156183251:A:C	NC_000001.11:156183251:A:C	(self)
ss84640173	NC_000001.8:152966115:A:G	NC_000001.11:156183251:A:G	(self)
ss199096429, ss253514698, ss276053854, ss284153899, ss290638515, ss1585073631	NC_000001.9:154419666:A:G	NC_000001.11:156183251:A:G	(self)
3758460, 2043212, 1446159, 1711378, 886754, 2417461, 777814, 967295, 2042361, 519666, 4504960, 2043212, ss238381620, ss554712446, ss648419426, ss975691800, ss1068275012, ss1292965037, ss1425980731, ss1574396453, ss1601233779, ss1644227812, ss1795103182, ss1918925365, ss2019977711, ss2148003312, ss2697975887, ss2761440740, ss2987768833, ss3343714139, ss3655707911, ss3727492949, ss3746819177, ss3826428177, ss3836608624, ss3850025381, ss3895240067, ss5146535653, ss5322115289, ss5626609536, ss5832678203, ss5938403785	NC_000001.10:156153042:A:G	NC_000001.11:156183251:A:G	(self)
5200173, 27373202, 7587013, 32289443, 14195354711, ss2166624534, ss3023745732, ss3646793066, ss3687802314, ss3799819231, ss3842017901, ss3945674416, ss4468683108, ss5244328141, ss5444917012, ss5517674238, ss5673749909, ss5801267715, ss5849111656, ss5910283875	NC_000001.11:156183251:A:G	NC_000001.11:156183251:A:G	(self)
ss41155112, ss99251781, ss131696512	NT_004487.19:7641684:A:G	NC_000001.11:156183251:A:G	(self)
ss18176372, ss19125999	NT_079484.1:2602874:A:G	NC_000001.11:156183251:A:G	(self)
14195354711	NC_000001.11:156183251:A:T	NC_000001.11:156183251: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 rs11264454

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

rs11264454