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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:152617167 (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.

C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
C=0.42965 (7201/16760, 8.3KJPN)
G=0.4203 (2779/6612, ALFA)
C=0.4577 (2292/5008, 1000G) (+ 3 more)
C=0.4552 (1330/2922, KOREAN)
C=0.4514 (827/1832, Korea1K)
C=0.278 (120/432, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
0 citations
Genomic View
See rs on genome

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.152617167C>A
GRCh38.p13 chr 1 NC_000001.11:g.152617167C>G
GRCh38.p13 chr 1 NC_000001.11:g.152617167C>T
GRCh37.p13 chr 1 NC_000001.10:g.152589643C>A
GRCh37.p13 chr 1 NC_000001.10:g.152589643C>G
GRCh37.p13 chr 1 NC_000001.10:g.152589643C>T

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 6612 C=0.5796 A=0.0002, G=0.4203
European Sub 5418 C=0.4878 A=0.0002, G=0.5120
African Sub 930 C=1.000 A=0.000, G=0.000
African Others Sub 32 C=1.00 A=0.00, G=0.00
African American Sub 898 C=1.000 A=0.000, G=0.000
Asian Sub 12 C=1.00 A=0.00, G=0.00
East Asian Sub 8 C=1.0 A=0.0, G=0.0
Other Asian Sub 4 C=1.0 A=0.0, G=0.0
Latin American 1 Sub 34 C=1.00 A=0.00, G=0.00
Latin American 2 Sub 100 C=1.00 A=0.00, G=0.00
South Asian Sub 20 C=1.00 A=0.00, G=0.00
Other Sub 98 C=0.95 A=0.00, G=0.05


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").

Study Population Group Sample Size Ref Allele Alt Allele
8.3KJPN JAPANESE Study-wide 16760 C=0.42965 G=0.57035
Allele Frequency Aggregator Total Global 6612 C=0.5796 A=0.0002, G=0.4203
Allele Frequency Aggregator European Sub 5418 C=0.4878 A=0.0002, G=0.5120
Allele Frequency Aggregator African Sub 930 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Latin American 2 Sub 100 C=1.00 A=0.00, G=0.00
Allele Frequency Aggregator Other Sub 98 C=0.95 A=0.00, G=0.05
Allele Frequency Aggregator Latin American 1 Sub 34 C=1.00 A=0.00, G=0.00
Allele Frequency Aggregator South Asian Sub 20 C=1.00 A=0.00, G=0.00
Allele Frequency Aggregator Asian Sub 12 C=1.00 A=0.00, G=0.00
1000Genomes Global Study-wide 5008 C=0.4577 G=0.5423
1000Genomes African Sub 1322 C=0.6725 G=0.3275
1000Genomes East Asian Sub 1008 C=0.3730 G=0.6270
1000Genomes Europe Sub 1006 C=0.3698 G=0.6302
1000Genomes South Asian Sub 978 C=0.388 G=0.612
1000Genomes American Sub 694 C=0.398 G=0.602
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.4552 G=0.5448, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 C=0.4514 G=0.5486
SGDP_PRJ Global Study-wide 432 C=0.278 G=0.722

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 C= A G T
GRCh38.p13 chr 1 NC_000001.11:g.152617167= NC_000001.11:g.152617167C>A NC_000001.11:g.152617167C>G NC_000001.11:g.152617167C>T
GRCh37.p13 chr 1 NC_000001.10:g.152589643= NC_000001.10:g.152589643C>A NC_000001.10:g.152589643C>G NC_000001.10:g.152589643C>T

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#.

27 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18405778 Feb 27, 2004 (120)
2 SC_SNP ss19058885 Feb 27, 2004 (120)
3 SSAHASNP ss20513678 Apr 05, 2004 (121)
4 BCMHGSC_JDW ss87819831 Mar 23, 2008 (129)
5 HUMANGENOME_JCVI ss99249830 Feb 04, 2009 (130)
6 COMPLETE_GENOMICS ss167117040 Jul 04, 2010 (132)
7 BCM-HGSC-SUB ss205534164 Jul 04, 2010 (132)
8 GMI ss276046326 May 04, 2012 (137)
9 PJP ss290634516 May 09, 2011 (134)
10 SSMP ss648405248 Apr 25, 2013 (138)
11 1000GENOMES ss1292869890 Aug 21, 2014 (142)
12 GRF ss2697963022 Nov 08, 2017 (151)
13 GNOMAD ss2761155295 Nov 08, 2017 (151)
14 SWEGEN ss2987730965 Nov 08, 2017 (151)
15 TOPMED ss3091773796 Nov 08, 2017 (151)
16 CSHL ss3343705077 Nov 08, 2017 (151)
17 URBANLAB ss3646788691 Oct 11, 2018 (152)
18 PACBIO ss3783562845 Jul 12, 2019 (153)
19 PACBIO ss3789195163 Jul 12, 2019 (153)
20 PACBIO ss3794067168 Jul 12, 2019 (153)
21 KHV_HUMAN_GENOMES ss3799793464 Jul 12, 2019 (153)
22 EVA ss3836603547 Apr 25, 2020 (154)
23 EVA ss3842012694 Apr 25, 2020 (154)
24 SGDP_PRJ ss3849977887 Apr 25, 2020 (154)
25 KRGDB ss3895179068 Apr 25, 2020 (154)
26 KOGIC ss3945623609 Apr 25, 2020 (154)
27 TOMMO_GENOMICS ss5146416897 Apr 25, 2021 (155)
28 1000Genomes NC_000001.10 - 152589643 Oct 11, 2018 (152)
29 KOREAN population from KRGDB NC_000001.10 - 152589643 Apr 25, 2020 (154)
30 Korean Genome Project NC_000001.11 - 152617167 Apr 25, 2020 (154)
31 SGDP_PRJ NC_000001.10 - 152589643 Apr 25, 2020 (154)
32 8.3KJPN NC_000001.10 - 152589643 Apr 25, 2021 (155)
33 ALFA NC_000001.11 - 152617167 Apr 25, 2021 (155)

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
ss2761155295 NC_000001.10:152589642:C:A NC_000001.11:152617166:C:A (self)
235770972 NC_000001.11:152617166:C:A NC_000001.11:152617166:C:A
ss87819831, ss167117040, ss205534164, ss276046326, ss290634516 NC_000001.9:150856266:C:G NC_000001.11:152617166:C:G (self)
3660014, 2356462, 1994867, 4386204, ss648405248, ss1292869890, ss2697963022, ss2761155295, ss2987730965, ss3343705077, ss3783562845, ss3789195163, ss3794067168, ss3836603547, ss3849977887, ss3895179068, ss5146416897 NC_000001.10:152589642:C:G NC_000001.11:152617166:C:G (self)
2001610, 235770972, ss3091773796, ss3646788691, ss3799793464, ss3842012694, ss3945623609 NC_000001.11:152617166:C:G NC_000001.11:152617166:C:G (self)
ss19058885, ss99249830 NT_004487.19:4078284:C:G NC_000001.11:152617166:C:G (self)
ss18405778, ss20513678 NT_032962.5:3079997:C:G NC_000001.11:152617166:C:G (self)
2356462, ss3895179068 NC_000001.10:152589642:C:T NC_000001.11:152617166:C:T (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs11205042


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