Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

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 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:897581-897588 (GRCh38.p13) 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=0.45351 (8399/18520, ALFA) (+ 8 more)
(T)8=0.23138 (3878/16760, 8.3KJPN)
(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
Help

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.p13 chr 1 NC_000001.11:g.897588del
GRCh37.p13 chr 1 NC_000001.10:g.832968del
Help

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

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: 20201027095038
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


Help

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").

Download
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
8.3KJPN JAPANESE Study-wide 16760 (T)8=0.23138 delT=0.76862
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
Help

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.p13 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
Help

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#.

42 SubSNP, 11 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 TOPMED ss2321506862 Dec 20, 2016 (150)
26 SYSTEMSBIOZJU ss2624264893 Nov 08, 2017 (151)
27 GNOMAD ss2750645636 Nov 08, 2017 (151)
28 SWEGEN ss2986150538 Nov 08, 2017 (151)
29 MCHAISSO ss3063573540 Nov 08, 2017 (151)
30 MCHAISSO ss3064386051 Nov 08, 2017 (151)
31 MCHAISSO ss3065282525 Nov 08, 2017 (151)
32 TOPMED ss3066412941 Nov 08, 2017 (151)
33 BIOINF_KMB_FNS_UNIBA ss3645022422 Oct 11, 2018 (152)
34 EVA_DECODE ss3685992941 Jul 12, 2019 (153)
35 ACPOP ss3726716699 Jul 12, 2019 (153)
36 KHV_HUMAN_GENOMES ss3798744181 Jul 12, 2019 (153)
37 EVA ss3825981601 Apr 25, 2020 (154)
38 EVA ss3836378526 Apr 25, 2020 (154)
39 EVA ss3841782540 Apr 25, 2020 (154)
40 KOGIC ss3943630798 Apr 25, 2020 (154)
41 TOPMED ss4436447391 Apr 25, 2021 (155)
42 TOMMO_GENOMICS ss5142055193 Apr 25, 2021 (155)
43 1000Genomes NC_000001.10 - 832961 Oct 11, 2018 (152)
44 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 832961 Oct 11, 2018 (152)
45 The Danish reference pan genome NC_000001.10 - 832961 Apr 25, 2020 (154)
46 gnomAD - Genomes NC_000001.11 - 897581 Apr 25, 2021 (155)
47 Genome of the Netherlands Release 5 NC_000001.10 - 832961 Apr 25, 2020 (154)
48 Korean Genome Project NC_000001.11 - 897581 Apr 25, 2020 (154)
49 Northern Sweden NC_000001.10 - 832961 Jul 12, 2019 (153)
50 8.3KJPN NC_000001.10 - 832961 Apr 25, 2021 (155)
51 TopMed NC_000001.11 - 897581 Apr 25, 2021 (155)
52 UK 10K study - Twins NC_000001.10 - 832961 Oct 11, 2018 (152)
53 ALFA NC_000001.11 - 897581 Apr 25, 2021 (155)
Help

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, ss2321506862, ss2624264893, ss2750645636, ss2986150538, ss3726716699, ss3825981601, ss3836378526, ss5142055193 NC_000001.10:832960:T: NC_000001.11:897580:TTTTTTTT:TTTTT…

NC_000001.11:897580:TTTTTTTT:TTTTTTT

(self)
77949, 8799, 25748, 53726, ss3063573540, ss3064386051, ss3065282525, ss3066412941, ss3645022422, ss3685992941, ss3798744181, ss3841782540, ss3943630798, ss4436447391 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)
Help

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

Help

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.

Software version is: 2.0.1.post596+ae089ad