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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.

rs1088639

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:41062 (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
G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.014477 (3832/264690, TOPMED)
C=0.013969 (1957/140098, GnomAD)
C=0.00992 (143/14420, ALFA) (+ 3 more)
C=0.0156 (78/5008, 1000G)
C=0.019 (4/214, Qatari)
G=0.33 (4/12, SGDP_PRJ)
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 16 NC_000016.10:g.41062G>C
GRCh37.p13 chr 16 NC_000016.9:g.91062G>C
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 14420 G=0.99008 C=0.00992
European Sub 9824 G=0.9998 C=0.0002
African Sub 2946 G=0.9566 C=0.0434
African Others Sub 114 G=0.974 C=0.026
African American Sub 2832 G=0.9559 C=0.0441
Asian Sub 112 G=1.000 C=0.000
East Asian Sub 86 G=1.00 C=0.00
Other Asian Sub 26 G=1.00 C=0.00
Latin American 1 Sub 146 G=0.986 C=0.014
Latin American 2 Sub 610 G=0.998 C=0.002
South Asian Sub 98 G=1.00 C=0.00
Other Sub 684 G=0.985 C=0.015


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 G=0.985523 C=0.014477
gnomAD - Genomes Global Study-wide 140098 G=0.986031 C=0.013969
gnomAD - Genomes European Sub 75898 G=0.99975 C=0.00025
gnomAD - Genomes African Sub 41974 G=0.95607 C=0.04393
gnomAD - Genomes American Sub 13626 G=0.99501 C=0.00499
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3128 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 G=0.9879 C=0.0121
1000Genomes Global Study-wide 5008 G=0.9844 C=0.0156
1000Genomes African Sub 1322 G=0.9440 C=0.0560
1000Genomes East Asian Sub 1008 G=1.0000 C=0.0000
1000Genomes Europe Sub 1006 G=0.9990 C=0.0010
1000Genomes South Asian Sub 978 G=1.000 C=0.000
1000Genomes American Sub 694 G=0.996 C=0.004
Qatari Global Study-wide 214 G=0.981 C=0.019
SGDP_PRJ Global Study-wide 12 G=0.33 C=0.67
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= C
GRCh38.p13 chr 16 NC_000016.10:g.41062= NC_000016.10:g.41062G>C
GRCh37.p13 chr 16 NC_000016.9:g.91062= NC_000016.9:g.91062G>C
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#.

14 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss999825 Oct 13, 2000 (86)
2 SC_JCM ss3596664 Sep 28, 2001 (123)
3 1000GENOMES ss339033429 May 09, 2011 (134)
4 TISHKOFF ss564710032 Apr 25, 2013 (138)
5 JMKIDD_LAB ss1080408299 Aug 21, 2014 (142)
6 1000GENOMES ss1354950966 Aug 21, 2014 (142)
7 HAMMER_LAB ss1808371048 Sep 08, 2015 (146)
8 WEILL_CORNELL_DGM ss1935578314 Feb 12, 2016 (147)
9 HUMAN_LONGEVITY ss2209766294 Dec 20, 2016 (150)
10 TOPMED ss2374359005 Dec 20, 2016 (150)
11 GNOMAD ss2939123222 Nov 08, 2017 (151)
12 TOPMED ss3237331839 Nov 08, 2017 (151)
13 SGDP_PRJ ss3883708564 Apr 27, 2020 (154)
14 TOPMED ss5004237096 Apr 26, 2021 (155)
15 1000Genomes NC_000016.9 - 91062 Oct 12, 2018 (152)
16 gnomAD - Genomes NC_000016.10 - 41062 Apr 26, 2021 (155)
17 Qatari NC_000016.9 - 91062 Apr 27, 2020 (154)
18 SGDP_PRJ NC_000016.9 - 91062 Apr 27, 2020 (154)
19 TopMed NC_000016.10 - 41062 Apr 26, 2021 (155)
20 ALFA NC_000016.10 - 41062 Apr 26, 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)
rs2562142 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
68075554, 17620236, 35725544, ss339033429, ss564710032, ss1080408299, ss1354950966, ss1808371048, ss1935578314, ss2374359005, ss2939123222, ss3883708564 NC_000016.9:91061:G:C NC_000016.10:41061:G:C (self)
479813595, 137412703, 219782757, 14243779173, ss2209766294, ss3237331839, ss5004237096 NC_000016.10:41061:G:C NC_000016.10:41061:G:C (self)
ss999825, ss3596664 NT_010393.16:31061:G:C NC_000016.10:41061:G:C (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 rs1088639

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