Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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
chr8:220755 (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.

G>A / G>C
Variation Type
SNV Single Nucleotide Variation
C=0.007688 (2035/264690, TOPMED)
C=0.007015 (981/139844, GnomAD)
C=0.00144 (27/18720, ALFA) (+ 8 more)
C=0.0070 (35/5008, 1000G)
C=0.0022 (10/4480, Estonian)
C=0.0026 (10/3854, ALSPAC)
C=0.0022 (8/3708, TWINSUK)
C=0.004 (4/998, GoNL)
C=0.014 (3/216, Qatari)
G=0.5 (5/10, SGDP_PRJ)
C=0.5 (5/10, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RPL23AP53 : Intron Variant
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 8 NC_000008.11:g.220755G>A
GRCh38.p13 chr 8 NC_000008.11:g.220755G>C
GRCh37.p13 chr 8 NC_000008.10:g.170755G>A
GRCh37.p13 chr 8 NC_000008.10:g.170755G>C
Gene: RPL23AP53, ribosomal protein L23a pseudogene 53 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RPL23AP53 transcript NR_003572.2:n. N/A Intron Variant

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 18720 G=0.99856 A=0.00000, C=0.00144
European Sub 14216 G=0.99902 A=0.00000, C=0.00098
African Sub 2870 G=0.9962 A=0.0000, C=0.0038
African Others Sub 110 G=0.991 A=0.000, C=0.009
African American Sub 2760 G=0.9964 A=0.0000, C=0.0036
Asian Sub 112 G=1.000 A=0.000, C=0.000
East Asian Sub 86 G=1.00 A=0.00, C=0.00
Other Asian Sub 26 G=1.00 A=0.00, C=0.00
Latin American 1 Sub 142 G=1.000 A=0.000, C=0.000
Latin American 2 Sub 606 G=1.000 A=0.000, C=0.000
South Asian Sub 98 G=1.00 A=0.00, C=0.00
Other Sub 676 G=0.997 A=0.000, C=0.003


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
TopMed Global Study-wide 264690 G=0.992312 C=0.007688
gnomAD - Genomes Global Study-wide 139844 G=0.992985 C=0.007015
gnomAD - Genomes European Sub 75766 G=0.99678 C=0.00322
gnomAD - Genomes African Sub 41900 G=0.98592 C=0.01408
gnomAD - Genomes American Sub 13590 G=0.99294 C=0.00706
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9907 C=0.0093
gnomAD - Genomes East Asian Sub 3132 G=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2136 G=0.9906 C=0.0094
1000Genomes Global Study-wide 5008 G=0.9930 C=0.0070
1000Genomes African Sub 1322 G=0.9834 C=0.0166
1000Genomes East Asian Sub 1008 G=1.0000 C=0.0000
1000Genomes Europe Sub 1006 G=0.9950 C=0.0050
1000Genomes South Asian Sub 978 G=1.000 C=0.000
1000Genomes American Sub 694 G=0.988 C=0.012
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9978 C=0.0022
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9974 C=0.0026
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9978 C=0.0022
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.996 C=0.004
Qatari Global Study-wide 216 G=0.986 C=0.014
SGDP_PRJ Global Study-wide 10 G=0.5 C=0.5

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 C
GRCh38.p13 chr 8 NC_000008.11:g.220755= NC_000008.11:g.220755G>A NC_000008.11:g.220755G>C
GRCh37.p13 chr 8 NC_000008.10:g.170755= NC_000008.10:g.170755G>A NC_000008.10:g.170755G>C

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#.

17 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss334589139 May 09, 2011 (134)
2 TISHKOFF ss560447233 Apr 25, 2013 (138)
3 EVA-GONL ss985033375 Aug 21, 2014 (142)
4 JMKIDD_LAB ss1075153551 Aug 21, 2014 (142)
5 1000GENOMES ss1328017860 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1619671291 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1662665324 Apr 01, 2015 (144)
8 HAMMER_LAB ss1805329228 Sep 08, 2015 (146)
9 WEILL_CORNELL_DGM ss1928305464 Feb 12, 2016 (147)
10 HUMAN_LONGEVITY ss2299580462 Dec 20, 2016 (150)
11 TOPMED ss2469159243 Dec 20, 2016 (150)
12 GNOMAD ss2861624237 Nov 08, 2017 (151)
13 SWEGEN ss3002418611 Nov 08, 2017 (151)
14 TOPMED ss3550170592 Nov 08, 2017 (151)
15 EGCUT_WGS ss3670139100 Jul 13, 2019 (153)
16 SGDP_PRJ ss3868901122 Apr 26, 2020 (154)
17 TOPMED ss4771139751 Apr 26, 2021 (155)
18 1000Genomes NC_000008.10 - 170755 Oct 12, 2018 (152)
19 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 170755 Oct 12, 2018 (152)
20 Genetic variation in the Estonian population NC_000008.10 - 170755 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000008.11 - 220755 Apr 26, 2021 (155)
22 Genome of the Netherlands Release 5 NC_000008.10 - 170755 Apr 26, 2020 (154)
23 Qatari NC_000008.10 - 170755 Apr 26, 2020 (154)
24 SGDP_PRJ NC_000008.10 - 170755 Apr 26, 2020 (154)
25 TopMed NC_000008.11 - 220755 Apr 26, 2021 (155)
26 UK 10K study - Twins NC_000008.10 - 170755 Oct 12, 2018 (152)
27 ALFA NC_000008.11 - 220755 Apr 26, 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
5238985532 NC_000008.11:220754:G:A NC_000008.11:220754:G:A
40094077, 22303176, 15877348, 9954894, 10347394, 20918102, 22303176, ss334589139, ss560447233, ss985033375, ss1075153551, ss1328017860, ss1619671291, ss1662665324, ss1805329228, ss1928305464, ss2469159243, ss2861624237, ss3002418611, ss3670139100, ss3868901122 NC_000008.10:170754:G:C NC_000008.11:220754:G:C (self)
283007089, 380448212, 608517311, 5238985532, ss2299580462, ss3550170592, ss4771139751 NC_000008.11:220754:G:C NC_000008.11:220754:G:C (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 rs139051958


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