Name: rs34260203
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.

rs34260203

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:897581-897588 (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: delT
Variation Type: Indel Insertion and Deletion
Frequency: (T)₈=0.380120 (100614/264690, TOPMED)
(T)₈=0.384687 (53780/139802, GnomAD)
(T)₈=0.23098 (6527/28258, 14KJPN) (+ 10 more)
(T)₈=0.45351 (8399/18520, ALFA)
(T)₈=0.23138 (3878/16760, 8.3KJPN)
(T)₈=0.3037 (1945/6404, 1000G_30x)
(T)₈=0.3037 (1521/5008, 1000G)
delT=0.4494 (1732/3854, ALSPAC)
delT=0.4442 (1647/3708, TWINSUK)
(T)₈=0.2615 (479/1832, Korea1K)
delT=0.453 (452/998, GoNL)
delT=0.383 (230/600, NorthernSweden)
delT=0.47 (19/40, 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	18520	TTTTTTTT=0.45351	TTTTTTT=0.54649
European	Sub	14152	TTTTTTTT=0.52756	TTTTTTT=0.47244
African	Sub	2898	TTTTTTTT=0.1304	TTTTTTT=0.8696
African Others	Sub	114	TTTTTTTT=0.053	TTTTTTT=0.947
African American	Sub	2784	TTTTTTTT=0.1336	TTTTTTT=0.8664
Asian	Sub	112	TTTTTTTT=0.321	TTTTTTT=0.679
East Asian	Sub	86	TTTTTTTT=0.29	TTTTTTT=0.71
Other Asian	Sub	26	TTTTTTTT=0.42	TTTTTTT=0.58
Latin American 1	Sub	146	TTTTTTTT=0.295	TTTTTTT=0.705
Latin American 2	Sub	610	TTTTTTTT=0.410	TTTTTTT=0.590
South Asian	Sub	98	TTTTTTTT=0.45	TTTTTTT=0.55
Other	Sub	504	TTTTTTTT=0.361	TTTTTTT=0.639

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	(T)₈=0.380120	delT=0.619880
gnomAD - Genomes	Global	Study-wide	139802	(T)₈=0.384687	delT=0.615313
gnomAD - Genomes	European	Sub	75680	(T)₈=0.51981	delT=0.48019
gnomAD - Genomes	African	Sub	41902	(T)₈=0.13085	delT=0.86915
gnomAD - Genomes	American	Sub	13636	(T)₈=0.40195	delT=0.59805
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	(T)₈=0.4834	delT=0.5166
gnomAD - Genomes	East Asian	Sub	3120	(T)₈=0.3215	delT=0.6785
gnomAD - Genomes	Other	Sub	2146	(T)₈=0.4054	delT=0.5946
14KJPN	JAPANESE	Study-wide	28258	(T)₈=0.23098	delT=0.76902
Allele Frequency Aggregator	Total	Global	18520	(T)₈=0.45351	delT=0.54649
Allele Frequency Aggregator	European	Sub	14152	(T)₈=0.52756	delT=0.47244
Allele Frequency Aggregator	African	Sub	2898	(T)₈=0.1304	delT=0.8696
Allele Frequency Aggregator	Latin American 2	Sub	610	(T)₈=0.410	delT=0.590
Allele Frequency Aggregator	Other	Sub	504	(T)₈=0.361	delT=0.639
Allele Frequency Aggregator	Latin American 1	Sub	146	(T)₈=0.295	delT=0.705
Allele Frequency Aggregator	Asian	Sub	112	(T)₈=0.321	delT=0.679
Allele Frequency Aggregator	South Asian	Sub	98	(T)₈=0.45	delT=0.55
8.3KJPN	JAPANESE	Study-wide	16760	(T)₈=0.23138	delT=0.76862
1000Genomes_30x	Global	Study-wide	6404	(T)₈=0.3037	delT=0.6963
1000Genomes_30x	African	Sub	1786	(T)₈=0.0616	delT=0.9384
1000Genomes_30x	Europe	Sub	1266	(T)₈=0.5371	delT=0.4629
1000Genomes_30x	South Asian	Sub	1202	(T)₈=0.3927	delT=0.6073
1000Genomes_30x	East Asian	Sub	1170	(T)₈=0.2846	delT=0.7154
1000Genomes_30x	American	Sub	980	(T)₈=0.357	delT=0.643
1000Genomes	Global	Study-wide	5008	(T)₈=0.3037	delT=0.6963
1000Genomes	African	Sub	1322	(T)₈=0.0620	delT=0.9380
1000Genomes	East Asian	Sub	1008	(T)₈=0.2768	delT=0.7232
1000Genomes	Europe	Sub	1006	(T)₈=0.5239	delT=0.4761
1000Genomes	South Asian	Sub	978	(T)₈=0.392	delT=0.608
1000Genomes	American	Sub	694	(T)₈=0.360	delT=0.640
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₈=0.5506	delT=0.4494
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(T)₈=0.5558	delT=0.4442
Korean Genome Project	KOREAN	Study-wide	1832	(T)₈=0.2615	delT=0.7385
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	(T)₈=0.547	delT=0.453
Northern Sweden	ACPOP	Study-wide	600	(T)₈=0.617	delT=0.383
The Danish reference pan genome	Danish	Study-wide	40	(T)₈=0.53	delT=0.47

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.897588del
GRCh37.p13 chr 1	NC_000001.10:g.832968del

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)₈=	delT
GRCh38.p14 chr 1	NC_000001.11:g.897581_897588=	NC_000001.11:g.897588del
GRCh37.p13 chr 1	NC_000001.10:g.832961_832968=	NC_000001.10:g.832968del

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#.

51 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41303333	Dec 03, 2013 (138)
2	HGSV	ss78001909	Sep 08, 2015 (146)
3	HGSV	ss82276157	Sep 08, 2015 (146)
4	HGSV	ss82353774	Sep 08, 2015 (146)
5	GMI	ss154521631	Dec 01, 2009 (137)
6	BUSHMAN	ss193081954	Jul 04, 2010 (137)
7	GMI	ss229263673	May 09, 2011 (137)
8	GMI	ss287939387	May 04, 2012 (137)
9	PJP	ss294562340	May 09, 2011 (137)
10	PJP	ss294562341	May 09, 2011 (134)
11	1000GENOMES	ss325997507	May 09, 2011 (137)
12	LUNTER	ss550899149	Apr 25, 2013 (138)
13	LUNTER	ss550903137	Apr 25, 2013 (138)
14	LUNTER	ss552739025	Apr 25, 2013 (138)
15	SSMP	ss663209402	Apr 01, 2015 (144)
16	BILGI_BIOE	ss666080089	Apr 25, 2013 (138)
17	EVA-GONL	ss974769843	Aug 21, 2014 (142)
18	1000GENOMES	ss1367645469	Aug 21, 2014 (142)
19	DDI	ss1536213903	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1573868304	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1700143190	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1700153743	Apr 01, 2015 (144)
23	HAMMER_LAB	ss1793709421	Sep 08, 2015 (146)
24	JJLAB	ss2030297757	Sep 14, 2016 (149)
25	SYSTEMSBIOZJU	ss2624264893	Nov 08, 2017 (151)
26	GNOMAD	ss2750645636	Nov 08, 2017 (151)
27	SWEGEN	ss2986150538	Nov 08, 2017 (151)
28	MCHAISSO	ss3063573540	Nov 08, 2017 (151)
29	MCHAISSO	ss3064386051	Nov 08, 2017 (151)
30	MCHAISSO	ss3065282525	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3645022422	Oct 11, 2018 (152)
32	EVA_DECODE	ss3685992941	Jul 12, 2019 (153)
33	ACPOP	ss3726716699	Jul 12, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3798744181	Jul 12, 2019 (153)
35	EVA	ss3825981601	Apr 25, 2020 (154)
36	EVA	ss3836378526	Apr 25, 2020 (154)
37	EVA	ss3841782540	Apr 25, 2020 (154)
38	KOGIC	ss3943630798	Apr 25, 2020 (154)
39	TOPMED	ss4436447391	Apr 25, 2021 (155)
40	TOMMO_GENOMICS	ss5142055193	Apr 25, 2021 (155)
41	1000G_HIGH_COVERAGE	ss5240865273	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5442113236	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5512490651	Oct 12, 2022 (156)
44	SANFORD_IMAGENETICS	ss5624750780	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5666195479	Oct 12, 2022 (156)
46	YY_MCH	ss5800244326	Oct 12, 2022 (156)
47	EVA	ss5831419240	Oct 12, 2022 (156)
48	EVA	ss5848748961	Oct 12, 2022 (156)
49	EVA	ss5906706002	Oct 12, 2022 (156)
50	EVA	ss5936583431	Oct 12, 2022 (156)
51	EVA	ss5979926077	Oct 12, 2022 (156)
52	1000Genomes	NC_000001.10 - 832961	Oct 11, 2018 (152)
53	1000Genomes_30x	NC_000001.11 - 897581	Oct 12, 2022 (156)
54	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 832961	Oct 11, 2018 (152)
55	The Danish reference pan genome	NC_000001.10 - 832961	Apr 25, 2020 (154)
56	gnomAD - Genomes	NC_000001.11 - 897581	Apr 25, 2021 (155)
57	Genome of the Netherlands Release 5	NC_000001.10 - 832961	Apr 25, 2020 (154)
58	Korean Genome Project	NC_000001.11 - 897581	Apr 25, 2020 (154)
59	Northern Sweden	NC_000001.10 - 832961	Jul 12, 2019 (153)
60	8.3KJPN	NC_000001.10 - 832961	Apr 25, 2021 (155)
61	14KJPN	NC_000001.11 - 897581	Oct 12, 2022 (156)
62	TopMed	NC_000001.11 - 897581	Apr 25, 2021 (155)
63	UK 10K study - Twins	NC_000001.10 - 832961	Oct 11, 2018 (152)
64	ALFA	NC_000001.11 - 897581	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)
rs57300000	May 23, 2008 (130)
rs77120786	May 11, 2012 (137)
rs146934973	May 04, 2012 (137)
rs375080857	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78001909, ss82276157, ss82353774	NC_000001.8:872830:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
ss287939387, ss294562340, ss325997507, ss550899149, ss550903137, ss552739025	NC_000001.9:822823:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
ss294562341	NC_000001.9:822830:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
6010, 791, 120265, 812, 1564, 24500, 791, ss663209402, ss666080089, ss974769843, ss1367645469, ss1536213903, ss1573868304, ss1700143190, ss1700153743, ss1793709421, ss2030297757, ss2624264893, ss2750645636, ss2986150538, ss3726716699, ss3825981601, ss3836378526, ss5142055193, ss5624750780, ss5831419240, ss5936583431, ss5979926077	NC_000001.10:832960:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
16586, 77949, 8799, 32583, 53726, ss3063573540, ss3064386051, ss3065282525, ss3645022422, ss3685992941, ss3798744181, ss3841782540, ss3943630798, ss4436447391, ss5240865273, ss5442113236, ss5512490651, ss5666195479, ss5800244326, ss5848748961, ss5906706002	NC_000001.11:897580:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
5541274229	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
ss154521631, ss229263673	NT_004350.19:311592:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
ss41303333	NT_004350.19:311599:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(self)
ss193081954	NT_032977.10:311592:T:	NC_000001.11:897580:TTTTTTTT:TTTTT… NC_000001.11:897580:TTTTTTTT:TTTTTTT	(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 rs34260203

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
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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

rs34260203