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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.

rs2691277

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:52238 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.100353 (10281/102448, GnomAD)
T=0.00056 (9/16072, 8.3KJPN)
T=0.07469 (886/11862, ALFA) (+ 7 more)
T=0.0783 (392/5008, 1000G)
T=0.0039 (11/2826, KOREAN)
T=0.0017 (3/1726, Korea1K)
T=0.040 (20/504, SGDP_PRJ)
T=0.092 (18/196, Qatari)
T=0.00 (0/34, GENOME_DK)
T=0.0 (0/4, Siberian)
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.52238T>C
GRCh38.p13 chr 1 NC_000001.11:g.52238T>G
GRCh37.p13 chr 1 NC_000001.10:g.52238T>C
GRCh37.p13 chr 1 NC_000001.10:g.52238T>G
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 (New)
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 11862 T=0.07469 G=0.92531
European Sub 7618 T=0.0158 G=0.9842
African Sub 2816 T=0.2493 G=0.7507
African Others Sub 108 T=0.278 G=0.722
African American Sub 2708 T=0.2482 G=0.7518
Asian Sub 108 T=0.000 G=1.000
East Asian Sub 84 T=0.00 G=1.00
Other Asian Sub 24 T=0.00 G=1.00
Latin American 1 Sub 146 T=0.116 G=0.884
Latin American 2 Sub 610 T=0.013 G=0.987
South Asian Sub 94 T=0.00 G=1.00
Other Sub 470 T=0.083 G=0.917


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
gnomAD - Genomes Global Study-wide 102448 T=0.100353 G=0.899647
gnomAD - Genomes European Sub 57202 T=0.01575 G=0.98425
gnomAD - Genomes African Sub 30086 T=0.28871 G=0.71129
gnomAD - Genomes American Sub 8740 T=0.0626 G=0.9374
gnomAD - Genomes East Asian Sub 2768 T=0.0000 G=1.0000
gnomAD - Genomes Ashkenazi Jewish Sub 2176 T=0.0110 G=0.9890
gnomAD - Genomes Other Sub 1476 T=0.0833 G=0.9167
8.3KJPN JAPANESE Study-wide 16072 T=0.00056 G=0.99944
1000Genomes Global Study-wide 5008 T=0.0783 G=0.9217
1000Genomes African Sub 1322 T=0.2542 G=0.7458
1000Genomes East Asian Sub 1008 T=0.0000 G=1.0000
1000Genomes Europe Sub 1006 T=0.0119 G=0.9881
1000Genomes South Asian Sub 978 T=0.013 G=0.987
1000Genomes American Sub 694 T=0.045 G=0.955
KOREAN population from KRGDB KOREAN Study-wide 2826 T=0.0039 C=0.0000, G=0.9961
Korean Genome Project KOREAN Study-wide 1726 T=0.0017 G=0.9983
SGDP_PRJ Global Study-wide 504 T=0.040 G=0.960
Qatari Global Study-wide 196 T=0.092 G=0.908
The Danish reference pan genome Danish Study-wide 34 T=0.00 G=1.00
Siberian Global Study-wide 4 T=0.0 G=1.0
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= C G
GRCh38.p13 chr 1 NC_000001.11:g.52238= NC_000001.11:g.52238T>C NC_000001.11:g.52238T>G
GRCh37.p13 chr 1 NC_000001.10:g.52238= NC_000001.10:g.52238T>C NC_000001.10:g.52238T>G
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#.

28 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3800405 Sep 28, 2001 (100)
2 BCMHGSC_JDW ss87153185 Mar 25, 2008 (129)
3 ENSEMBL ss138962319 Dec 01, 2009 (131)
4 GMI ss275679898 May 04, 2012 (142)
5 1000GENOMES ss328356508 May 09, 2011 (142)
6 SSMP ss647514813 Apr 25, 2013 (142)
7 EVA-GONL ss974768735 Aug 21, 2014 (142)
8 1000GENOMES ss1289335598 Aug 21, 2014 (142)
9 DDI ss1425684539 Apr 01, 2015 (144)
10 EVA_GENOME_DK ss1573850706 Apr 01, 2015 (144)
11 HAMMER_LAB ss1793705015 Sep 08, 2015 (146)
12 WEILL_CORNELL_DGM ss1917958202 Feb 12, 2016 (147)
13 JJLAB ss2019497516 Sep 14, 2016 (149)
14 USC_VALOUEV ss2147483695 Dec 20, 2016 (150)
15 SYSTEMSBIOZJU ss2624264577 Nov 08, 2017 (151)
16 GRF ss2697372964 Nov 08, 2017 (151)
17 GNOMAD ss2750603421 Nov 08, 2017 (151)
18 SWEGEN ss2986141849 Nov 08, 2017 (151)
19 TOPMED ss3066320056 Nov 08, 2017 (151)
20 CSHL ss3343271523 Nov 08, 2017 (151)
21 URBANLAB ss3646580352 Oct 11, 2018 (152)
22 EVA ss3745720518 Jul 12, 2019 (153)
23 KHV_HUMAN_GENOMES ss3798742439 Jul 12, 2019 (153)
24 EVA ss3825981316 Apr 25, 2020 (154)
25 SGDP_PRJ ss3847983865 Apr 25, 2020 (154)
26 KRGDB ss3892823705 Apr 25, 2020 (154)
27 KOGIC ss3943622499 Apr 25, 2020 (154)
28 TOMMO_GENOMICS ss5142032466 Apr 25, 2021 (155)
29 1000Genomes NC_000001.10 - 52238 Oct 11, 2018 (152)
30 The Danish reference pan genome NC_000001.10 - 52238 Apr 25, 2020 (154)
31 gnomAD - Genomes NC_000001.11 - 52238 Apr 25, 2021 (155)
32 KOREAN population from KRGDB NC_000001.10 - 52238 Apr 25, 2020 (154)
33 Korean Genome Project NC_000001.11 - 52238 Apr 25, 2020 (154)
34 Qatari NC_000001.10 - 52238 Apr 25, 2020 (154)
35 SGDP_PRJ NC_000001.10 - 52238 Apr 25, 2020 (154)
36 Siberian NC_000001.10 - 52238 Apr 25, 2020 (154)
37 8.3KJPN NC_000001.10 - 52238 Apr 25, 2021 (155)
38 ALFA NC_000001.11 - 52238 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)
rs150021059 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1099, ss3892823705 NC_000001.10:52237:T:C NC_000001.11:52237:T:C (self)
ss87153185, ss275679898 NC_000001.9:42100:T:G NC_000001.11:52237:T:G (self)
171, 1357940, 1099, 132, 845, 49, 1773, ss328356508, ss647514813, ss974768735, ss1289335598, ss1425684539, ss1573850706, ss1793705015, ss1917958202, ss2019497516, ss2147483695, ss2624264577, ss2697372964, ss2750603421, ss2986141849, ss3343271523, ss3745720518, ss3825981316, ss3847983865, ss3892823705, ss5142032466 NC_000001.10:52237:T:G NC_000001.11:52237:T:G (self)
3301, 500, 11456070104, ss3066320056, ss3646580352, ss3798742439, ss3943622499 NC_000001.11:52237:T:G NC_000001.11:52237:T:G (self)
ss3800405, ss138962319 NT_077402.2:42237:T:G NC_000001.11:52237:T:G (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 rs2691277

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