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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.

rs540538026

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:13110 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.03229 (540/16726, 8.3KJPN)
A=0.0268 (134/5008, 1000G)
A=0.2145 (959/4470, ALFA) (+ 3 more)
A=0.0099 (29/2922, KOREAN)
G=0.50 (32/64, SGDP_PRJ)
A=0.50 (32/64, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DDX11L1 : Intron Variant
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 4470 G=0.7855 A=0.2145
European Sub 4462 G=0.7853 A=0.2147
African Sub 0 G=0 A=0
African Others Sub 0 G=0 A=0
African American Sub 0 G=0 A=0
Asian Sub 0 G=0 A=0
East Asian Sub 0 G=0 A=0
Other Asian Sub 0 G=0 A=0
Latin American 1 Sub 0 G=0 A=0
Latin American 2 Sub 0 G=0 A=0
South Asian Sub 0 G=0 A=0
Other Sub 8 G=0.9 A=0.1


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
8.3KJPN JAPANESE Study-wide 16726 G=0.96771 A=0.03229
1000Genomes Global Study-wide 5008 G=0.9732 A=0.0268
1000Genomes African Sub 1322 G=0.9947 A=0.0053
1000Genomes East Asian Sub 1008 G=0.9980 A=0.0020
1000Genomes Europe Sub 1006 G=0.9433 A=0.0567
1000Genomes South Asian Sub 978 G=0.956 A=0.044
1000Genomes American Sub 694 G=0.964 A=0.036
Allele Frequency Aggregator Total Global 4470 G=0.7855 A=0.2145
Allele Frequency Aggregator European Sub 4462 G=0.7853 A=0.2147
Allele Frequency Aggregator Other Sub 8 G=0.9 A=0.1
Allele Frequency Aggregator Latin American 1 Sub 0 G=0 A=0
Allele Frequency Aggregator Latin American 2 Sub 0 G=0 A=0
Allele Frequency Aggregator South Asian Sub 0 G=0 A=0
Allele Frequency Aggregator African Sub 0 G=0 A=0
Allele Frequency Aggregator Asian Sub 0 G=0 A=0
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9901 A=0.0099
SGDP_PRJ Global Study-wide 64 G=0.50 A=0.50
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.p14 chr 1 NC_000001.11:g.13110G>A
GRCh37.p13 chr 1 NC_000001.10:g.13110G>A
Gene: DDX11L1, DEAD/H-box helicase 11 like 1 (pseudogene) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DDX11L1 transcript NR_046018.2:n. N/A Intron Variant
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
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 G= A
GRCh38.p14 chr 1 NC_000001.11:g.13110= NC_000001.11:g.13110G>A
GRCh37.p13 chr 1 NC_000001.10:g.13110= NC_000001.10:g.13110G>A
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#.

10 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss1289335451 Aug 21, 2014 (142)
2 JJLAB ss2019497449 Sep 14, 2016 (149)
3 GNOMAD ss2750601097 Nov 08, 2017 (151)
4 SWEGEN ss2986141242 Nov 08, 2017 (151)
5 KHV_HUMAN_GENOMES ss3798742396 Jul 12, 2019 (153)
6 SGDP_PRJ ss3847983149 Apr 25, 2020 (154)
7 KRGDB ss3892822810 Apr 25, 2020 (154)
8 TOMMO_GENOMICS ss5142031028 Apr 25, 2021 (155)
9 EVA ss5316170521 Oct 12, 2022 (156)
10 SANFORD_IMAGENETICS ss5624741926 Oct 12, 2022 (156)
11 1000Genomes NC_000001.10 - 13110 Oct 11, 2018 (152)
12 KOREAN population from KRGDB NC_000001.10 - 13110 Apr 25, 2020 (154)
13 SGDP_PRJ NC_000001.10 - 13110 Apr 25, 2020 (154)
14 8.3KJPN NC_000001.10 - 13110 Apr 25, 2021 (155)
15 ALFA NC_000001.11 - 13110 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
16, 204, 129, 335, ss1289335451, ss2019497449, ss2750601097, ss2986141242, ss3847983149, ss3892822810, ss5142031028, ss5316170521, ss5624741926 NC_000001.10:13109:G:A NC_000001.11:13109:G:A (self)
13502431544, ss3798742396 NC_000001.11:13109:G:A NC_000001.11:13109:G:A (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 rs540538026

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.post761+d5e8e07