Name: rs11449268
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.

rs11449268

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:108811148-108811156 (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: dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: (T)₉=0.23457 (6628/28256, 14KJPN)
(T)₉=0.23634 (3961/16760, 8.3KJPN)
dupT=0.09150 (1012/11060, ALFA) (+ 7 more)
dupT=0.4012 (2009/5008, 1000G)
dupT=0.2243 (1005/4480, Estonian)
dupT=0.2141 (825/3854, ALSPAC)
dupT=0.2052 (761/3708, TWINSUK)
dupT=0.237 (237/998, GoNL)
dupT=0.237 (142/600, NorthernSweden)
dupT=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	11060	TTTTTTTTT=0.90850	TTTTTTTTTT=0.09150, TTTTTTTTTTT=0.00000
European	Sub	8912	TTTTTTTTT=0.8870	TTTTTTTTTT=0.1130, TTTTTTTTTTT=0.0000
African	Sub	1594	TTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000
African Others	Sub	68	TTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00
African American	Sub	1526	TTTTTTTTT=1.0000	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000
Asian	Sub	2	TTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0
East Asian	Sub	0	TTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0
Other Asian	Sub	2	TTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0
Latin American 1	Sub	58	TTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00
Latin American 2	Sub	216	TTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000
South Asian	Sub	40	TTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00
Other	Sub	238	TTTTTTTTT=0.979	TTTTTTTTTT=0.021, TTTTTTTTTTT=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
14KJPN	JAPANESE	Study-wide	28256	- No frequency provided	dupT=0.76543
8.3KJPN	JAPANESE	Study-wide	16760	- No frequency provided	dupT=0.76366
Allele Frequency Aggregator	Total	Global	11060	(T)₉=0.90850	dupT=0.09150, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	8912	(T)₉=0.8870	dupT=0.1130, dupTT=0.0000
Allele Frequency Aggregator	African	Sub	1594	(T)₉=1.0000	dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Other	Sub	238	(T)₉=0.979	dupT=0.021, dupTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	216	(T)₉=1.000	dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	58	(T)₉=1.00	dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	South Asian	Sub	40	(T)₉=1.00	dupT=0.00, dupTT=0.00
Allele Frequency Aggregator	Asian	Sub	2	(T)₉=1.0	dupT=0.0, dupTT=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupT=0.4012
1000Genomes	African	Sub	1322	- No frequency provided	dupT=0.2292
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupT=0.7510
1000Genomes	Europe	Sub	1006	- No frequency provided	dupT=0.2614
1000Genomes	South Asian	Sub	978	- No frequency provided	dupT=0.368
1000Genomes	American	Sub	694	- No frequency provided	dupT=0.470
Genetic variation in the Estonian population	Estonian	Study-wide	4480	- No frequency provided	dupT=0.2243
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupT=0.2141
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupT=0.2052
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	- No frequency provided	dupT=0.237
Northern Sweden	ACPOP	Study-wide	600	- No frequency provided	dupT=0.237
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.28

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.108811156dup
GRCh38.p14 chr 1	NC_000001.11:g.108811155_108811156dup
GRCh37.p13 chr 1	NC_000001.10:g.109353778dup
GRCh37.p13 chr 1	NC_000001.10:g.109353777_109353778dup

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)₉=	dupT	dupTT
GRCh38.p14 chr 1	NC_000001.11:g.108811148_108811156=	NC_000001.11:g.108811156dup	NC_000001.11:g.108811155_108811156dup
GRCh37.p13 chr 1	NC_000001.10:g.109353770_109353778=	NC_000001.10:g.109353778dup	NC_000001.10:g.109353777_109353778dup

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#.

47 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss39681122	Mar 14, 2006 (138)
2	HGSV	ss81856895	Oct 11, 2018 (152)
3	HUMANGENOME_JCVI	ss95239903	Oct 11, 2018 (152)
4	HUMANGENOME_JCVI	ss98574796	Feb 06, 2009 (138)
5	BL	ss255934703	May 09, 2011 (138)
6	GMI	ss288025361	May 04, 2012 (137)
7	PJP	ss294597653	May 09, 2011 (137)
8	PJP	ss294597654	May 09, 2011 (137)
9	1000GENOMES	ss326074833	May 09, 2011 (138)
10	1000GENOMES	ss326077193	May 09, 2011 (138)
11	1000GENOMES	ss326102088	May 09, 2011 (138)
12	1000GENOMES	ss498967725	May 04, 2012 (138)
13	LUNTER	ss550970350	Apr 25, 2013 (138)
14	LUNTER	ss550983502	Apr 25, 2013 (138)
15	LUNTER	ss552796617	Apr 25, 2013 (138)
16	SSMP	ss663108766	Apr 01, 2015 (144)
17	BILGI_BIOE	ss666105789	Apr 25, 2013 (138)
18	EVA-GONL	ss975553334	Aug 21, 2014 (142)
19	1000GENOMES	ss1367811491	Aug 21, 2014 (142)
20	EVA_GENOME_DK	ss1574005886	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1701084004	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1701084016	Apr 01, 2015 (144)
23	JJLAB	ss2030342371	Sep 14, 2016 (149)
24	SYSTEMSBIOZJU	ss2624460039	Nov 08, 2017 (151)
25	SWEGEN	ss2987411129	Nov 08, 2017 (151)
26	SWEGEN	ss2987411130	Nov 08, 2017 (151)
27	MCHAISSO	ss3063603021	Nov 08, 2017 (151)
28	MCHAISSO	ss3064418317	Nov 08, 2017 (151)
29	BIOINF_KMB_FNS_UNIBA	ss3645064981	Oct 11, 2018 (152)
30	URBANLAB	ss3646748278	Oct 11, 2018 (152)
31	EGCUT_WGS	ss3655499598	Jul 12, 2019 (153)
32	EVA_DECODE	ss3687497064	Jul 12, 2019 (153)
33	ACPOP	ss3727374500	Jul 12, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3799656335	Jul 12, 2019 (153)
35	EVA	ss3826360530	Apr 25, 2020 (154)
36	GNOMAD	ss4000151869	Apr 25, 2021 (155)
37	GNOMAD	ss4000151870	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5145606026	Apr 25, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5243552949	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5444481947	Oct 12, 2022 (156)
41	SANFORD_IMAGENETICS	ss5626266813	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5670851292	Oct 12, 2022 (156)
43	YY_MCH	ss5800918090	Oct 12, 2022 (156)
44	EVA	ss5832461050	Oct 12, 2022 (156)
45	EVA	ss5849061249	Oct 12, 2022 (156)
46	EVA	ss5909733949	Oct 12, 2022 (156)
47	EVA	ss5938130635	Oct 12, 2022 (156)
48	1000Genomes	NC_000001.10 - 109353770	Oct 11, 2018 (152)
49	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 109353770	Oct 11, 2018 (152)
50	Genetic variation in the Estonian population	NC_000001.10 - 109353770	Oct 11, 2018 (152)
51	The Danish reference pan genome	NC_000001.10 - 109353770	Apr 25, 2020 (154)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22211496 (NC_000001.11:108811147::T 37878/138878) Row 22211497 (NC_000001.11:108811147::TT 2/138966)	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 22211496 (NC_000001.11:108811147::T 37878/138878) Row 22211497 (NC_000001.11:108811147::TT 2/138966)	-	Apr 25, 2021 (155)
54	Genome of the Netherlands Release 5	NC_000001.10 - 109353770	Apr 25, 2020 (154)
55	Northern Sweden	NC_000001.10 - 109353770	Jul 12, 2019 (153)
56	8.3KJPN	NC_000001.10 - 109353770	Apr 25, 2021 (155)
57	14KJPN	NC_000001.11 - 108811148	Oct 12, 2022 (156)
58	UK 10K study - Twins	NC_000001.10 - 109353770	Oct 11, 2018 (152)
59	ALFA	NC_000001.11 - 108811148	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)
rs35311330	May 15, 2013 (138)
rs35942202	May 11, 2012 (137)
rs59582054	May 25, 2008 (130)
rs67711698	May 11, 2012 (137)
rs67711699	Feb 27, 2009 (130)
rs67711700	Feb 27, 2009 (130)
rs142685076	May 11, 2012 (137)
rs144414826	Sep 17, 2011 (135)
rs147360601	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss255934703, ss326074833, ss326077193, ss326102088, ss550970350, ss550983502, ss552796617	NC_000001.9:109155292::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
ss294597653	NC_000001.9:109155295::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
ss294597654	NC_000001.9:109155299::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
ss288025361	NC_000001.9:109155301::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
3139749, 1734190, 1237846, 165372, 755446, 659365, 3575333, 1734190, ss498967725, ss663108766, ss666105789, ss975553334, ss1367811491, ss1574005886, ss1701084004, ss1701084016, ss2030342371, ss2624460039, ss2987411129, ss3655499598, ss3727374500, ss3826360530, ss5145606026, ss5626266813, ss5832461050, ss5938130635	NC_000001.10:109353769::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
4688396, ss3063603021, ss3064418317, ss3645064981, ss3646748278, ss3687497064, ss3799656335, ss4000151869, ss5243552949, ss5444481947, ss5670851292, ss5800918090, ss5849061249, ss5909733949	NC_000001.11:108811147::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
160574220	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
ss39681122, ss98574796	NT_032977.9:79325687::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
ss81856895, ss95239903	NT_032977.9:79325696::T	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTT	(self)
ss2987411130	NC_000001.10:109353769::TT	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTTT	(self)
ss4000151870	NC_000001.11:108811147::TT	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTTT	(self)
160574220	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTTT	NC_000001.11:108811147:TTTTTTTTT:T… NC_000001.11:108811147:TTTTTTTTT:TTTTTTTTTTT	(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 rs11449268

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

rs11449268