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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.

rs34287831

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1131009 (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
dupT
Variation Type
Indel Insertion and Deletion
Frequency
T=0.475405 (125835/264690, TOPMED)
T=0.485656 (67819/139644, GnomAD)
T=0.43687 (7321/16758, 8.3KJPN) (+ 9 more)
T=0.46345 (7569/16332, ALFA)
T=0.4832 (2420/5008, 1000G)
T=0.4558 (2042/4480, Estonian)
T=0.3918 (1510/3854, ALSPAC)
T=0.4008 (1486/3708, TWINSUK)
T=0.4410 (807/1830, Korea1K)
T=0.413 (412/998, GoNL)
T=0.402 (241/600, NorthernSweden)
T=0.38 (15/40, 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.1131009dup
GRCh37.p13 chr 1 NC_000001.10:g.1066389dup
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 16332 T=0.46345 TT=0.53655
European Sub 12080 T=0.42550 TT=0.57450
African Sub 2816 T=0.6562 TT=0.3438
African Others Sub 108 T=0.741 TT=0.259
African American Sub 2708 T=0.6529 TT=0.3471
Asian Sub 108 T=0.472 TT=0.528
East Asian Sub 84 T=0.49 TT=0.51
Other Asian Sub 24 T=0.42 TT=0.58
Latin American 1 Sub 146 T=0.473 TT=0.527
Latin American 2 Sub 610 T=0.311 TT=0.689
South Asian Sub 94 T=0.38 TT=0.62
Other Sub 478 T=0.492 TT=0.508


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 -

No frequency provided

dupT=0.524595
gnomAD - Genomes Global Study-wide 139644 -

No frequency provided

dupT=0.514344
gnomAD - Genomes European Sub 75578 -

No frequency provided

dupT=0.57419
gnomAD - Genomes African Sub 41900 -

No frequency provided

dupT=0.35554
gnomAD - Genomes American Sub 13610 -

No frequency provided

dupT=0.64702
gnomAD - Genomes Ashkenazi Jewish Sub 3316 -

No frequency provided

dupT=0.5850
gnomAD - Genomes East Asian Sub 3092 -

No frequency provided

dupT=0.5233
gnomAD - Genomes Other Sub 2148 -

No frequency provided

dupT=0.5438
8.3KJPN JAPANESE Study-wide 16758 -

No frequency provided

dupT=0.56313
1000Genomes Global Study-wide 5008 -

No frequency provided

dupT=0.5168
1000Genomes African Sub 1322 -

No frequency provided

dupT=0.2912
1000Genomes East Asian Sub 1008 -

No frequency provided

dupT=0.5476
1000Genomes Europe Sub 1006 -

No frequency provided

dupT=0.6014
1000Genomes South Asian Sub 978 -

No frequency provided

dupT=0.579
1000Genomes American Sub 694 -

No frequency provided

dupT=0.692
Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

dupT=0.5442
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupT=0.6082
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupT=0.5992
Korean Genome Project KOREAN Study-wide 1830 -

No frequency provided

dupT=0.5590
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 -

No frequency provided

dupT=0.587
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

dupT=0.598
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupT=0.62
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= dupT
GRCh38.p13 chr 1 NC_000001.11:g.1131009= NC_000001.11:g.1131009dup
GRCh37.p13 chr 1 NC_000001.10:g.1066389= NC_000001.10:g.1066389dup
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#.

46 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41070105 Mar 13, 2006 (126)
2 HUMANGENOME_JCVI ss95218995 Feb 04, 2009 (130)
3 GMI ss229263759 May 09, 2011 (138)
4 BL ss255892857 May 09, 2011 (138)
5 PJP ss294562416 May 09, 2011 (135)
6 1000GENOMES ss325997192 May 09, 2011 (138)
7 1000GENOMES ss325997358 May 09, 2011 (138)
8 1000GENOMES ss325997789 May 09, 2011 (138)
9 1000GENOMES ss498764004 May 04, 2012 (138)
10 LUNTER ss550899298 Apr 25, 2013 (138)
11 LUNTER ss550903266 Apr 25, 2013 (138)
12 LUNTER ss552739261 Apr 25, 2013 (138)
13 TISHKOFF ss553747952 Apr 25, 2013 (138)
14 SSMP ss663107342 Apr 01, 2015 (144)
15 BILGI_BIOE ss666080119 Apr 25, 2013 (138)
16 EVA-GONL ss974772139 Aug 21, 2014 (142)
17 1000GENOMES ss1367645864 Aug 21, 2014 (142)
18 DDI ss1536213991 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1573868731 Apr 01, 2015 (144)
20 EVA_DECODE ss1584132061 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1700146516 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1700155063 Apr 01, 2015 (144)
23 HAMMER_LAB ss1793717250 Sep 08, 2015 (146)
24 JJLAB ss2030297893 Sep 14, 2016 (149)
25 SYSTEMSBIOZJU ss2624265579 Nov 08, 2017 (151)
26 GNOMAD ss2750673385 Nov 08, 2017 (151)
27 SWEGEN ss2986154580 Nov 08, 2017 (151)
28 MCHAISSO ss3063573624 Nov 08, 2017 (151)
29 MCHAISSO ss3065282698 Nov 08, 2017 (151)
30 TOPMED ss3066475661 Nov 08, 2017 (151)
31 BEROUKHIMLAB ss3644051584 Oct 11, 2018 (152)
32 BIOINF_KMB_FNS_UNIBA ss3645022520 Oct 11, 2018 (152)
33 URBANLAB ss3646581971 Oct 11, 2018 (152)
34 EGCUT_WGS ss3654265695 Jul 12, 2019 (153)
35 EVA_DECODE ss3685998276 Jul 12, 2019 (153)
36 ACPOP ss3726718824 Jul 12, 2019 (153)
37 PACBIO ss3783303060 Jul 12, 2019 (153)
38 PACBIO ss3788980835 Jul 12, 2019 (153)
39 PACBIO ss3793853386 Jul 12, 2019 (153)
40 KHV_HUMAN_GENOMES ss3798747084 Jul 12, 2019 (153)
41 EVA ss3825982683 Apr 25, 2020 (154)
42 EVA ss3836379037 Apr 25, 2020 (154)
43 EVA ss3841783065 Apr 25, 2020 (154)
44 KOGIC ss3943636659 Apr 25, 2020 (154)
45 TOPMED ss4436524361 Apr 25, 2021 (155)
46 TOMMO_GENOMICS ss5142067549 Apr 25, 2021 (155)
47 1000Genomes NC_000001.10 - 1066389 Oct 11, 2018 (152)
48 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1066389 Oct 11, 2018 (152)
49 Genetic variation in the Estonian population NC_000001.10 - 1066389 Oct 11, 2018 (152)
50 The Danish reference pan genome NC_000001.10 - 1066389 Apr 25, 2020 (154)
51 gnomAD - Genomes NC_000001.11 - 1131009 Apr 25, 2021 (155)
52 Genome of the Netherlands Release 5 NC_000001.10 - 1066389 Apr 25, 2020 (154)
53 Korean Genome Project NC_000001.11 - 1131009 Apr 25, 2020 (154)
54 Northern Sweden NC_000001.10 - 1066389 Jul 12, 2019 (153)
55 8.3KJPN NC_000001.10 - 1066389 Apr 25, 2021 (155)
56 TopMed NC_000001.11 - 1131009 Apr 25, 2021 (155)
57 UK 10K study - Twins NC_000001.10 - 1066389 Oct 11, 2018 (152)
58 ALFA NC_000001.11 - 1131009 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)
rs140634183 May 15, 2013 (138)
rs141532946 Sep 17, 2011 (135)
rs145549192 Sep 17, 2011 (135)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss255892857, ss325997192, ss325997358, ss325997789, ss550899298, ss550903266, ss552739261, ss1584132061 NC_000001.9:1056251::T NC_000001.11:1131008:T:TT (self)
ss294562416 NC_000001.9:1056252::T NC_000001.11:1131008:T:TT (self)
15997, 5251, 3943, 120356, 2413, 3689, 36856, 5251, ss498764004, ss663107342, ss666080119, ss974772139, ss1367645864, ss1536213991, ss1573868731, ss1700146516, ss1700155063, ss1793717250, ss2030297893, ss2624265579, ss2750673385, ss2986154580, ss3644051584, ss3654265695, ss3726718824, ss3783303060, ss3788980835, ss3793853386, ss3825982683, ss3836379037, ss5142067549 NC_000001.10:1066388::T NC_000001.11:1131008:T:TT (self)
ss553747952 NC_000001.10:1066389::T NC_000001.11:1131008:T:TT (self)
145647, 14660, 130696, ss3063573624, ss3065282698, ss3066475661, ss3645022520, ss3646581971, ss3685998276, ss3798747084, ss3841783065, ss3943636659, ss4436524361 NC_000001.11:1131008::T NC_000001.11:1131008:T:TT (self)
7390448574 NC_000001.11:1131008:T:TT NC_000001.11:1131008:T:TT
ss229263759 NT_004350.19:545020::T NC_000001.11:1131008:T:TT (self)
ss41070105, ss95218995 NT_004350.19:545021::T NC_000001.11:1131008:T:TT (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 rs34287831

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