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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.

rs7822292

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:220920 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.492508 (130362/264690, TOPMED)
A=0.486593 (66961/137612, GnomAD)
A=0.36948 (10440/28256, 14KJPN) (+ 17 more)
A=0.43980 (8307/18888, ALFA)
A=0.37232 (6240/16760, 8.3KJPN)
C=0.4864 (3115/6404, 1000G_30x)
C=0.4932 (2470/5008, 1000G)
A=0.3883 (1739/4478, Estonian)
A=0.3941 (1519/3854, ALSPAC)
A=0.3916 (1452/3708, TWINSUK)
A=0.3788 (1110/2930, KOREAN)
A=0.3663 (671/1832, Korea1K)
A=0.391 (390/998, GoNL)
A=0.375 (225/600, NorthernSweden)
C=0.335 (132/394, SGDP_PRJ)
A=0.486 (105/216, Qatari)
A=0.19 (10/54, Ancient Sardinia)
C=0.50 (20/40, GENOME_DK)
A=0.50 (20/40, GENOME_DK)
C=0.47 (18/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RPL23AP53 : 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 18888 C=0.56020 A=0.43980
European Sub 14284 C=0.61670 A=0.38330
African Sub 2946 C=0.3045 A=0.6955
African Others Sub 114 C=0.237 A=0.763
African American Sub 2832 C=0.3072 A=0.6928
Asian Sub 112 C=0.634 A=0.366
East Asian Sub 86 C=0.59 A=0.41
Other Asian Sub 26 C=0.77 A=0.23
Latin American 1 Sub 146 C=0.534 A=0.466
Latin American 2 Sub 610 C=0.523 A=0.477
South Asian Sub 98 C=0.54 A=0.46
Other Sub 692 C=0.512 A=0.488


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 C=0.507492 A=0.492508
gnomAD - Genomes Global Study-wide 137612 C=0.513407 A=0.486593
gnomAD - Genomes European Sub 74642 C=0.60704 A=0.39296
gnomAD - Genomes African Sub 41050 C=0.31116 A=0.68884
gnomAD - Genomes American Sub 13368 C=0.54144 A=0.45856
gnomAD - Genomes Ashkenazi Jewish Sub 3314 C=0.6708 A=0.3292
gnomAD - Genomes East Asian Sub 3108 C=0.6245 A=0.3755
gnomAD - Genomes Other Sub 2130 C=0.5469 A=0.4531
14KJPN JAPANESE Study-wide 28256 C=0.63052 A=0.36948
Allele Frequency Aggregator Total Global 18888 C=0.56020 A=0.43980
Allele Frequency Aggregator European Sub 14284 C=0.61670 A=0.38330
Allele Frequency Aggregator African Sub 2946 C=0.3045 A=0.6955
Allele Frequency Aggregator Other Sub 692 C=0.512 A=0.488
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.523 A=0.477
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.534 A=0.466
Allele Frequency Aggregator Asian Sub 112 C=0.634 A=0.366
Allele Frequency Aggregator South Asian Sub 98 C=0.54 A=0.46
8.3KJPN JAPANESE Study-wide 16760 C=0.62768 A=0.37232
1000Genomes_30x Global Study-wide 6404 C=0.4864 A=0.5136
1000Genomes_30x African Sub 1786 C=0.2324 A=0.7676
1000Genomes_30x Europe Sub 1266 C=0.6288 A=0.3712
1000Genomes_30x South Asian Sub 1202 C=0.5466 A=0.4534
1000Genomes_30x East Asian Sub 1170 C=0.6077 A=0.3923
1000Genomes_30x American Sub 980 C=0.547 A=0.453
1000Genomes Global Study-wide 5008 C=0.4932 A=0.5068
1000Genomes African Sub 1322 C=0.2284 A=0.7716
1000Genomes East Asian Sub 1008 C=0.6181 A=0.3819
1000Genomes Europe Sub 1006 C=0.6302 A=0.3698
1000Genomes South Asian Sub 978 C=0.543 A=0.457
1000Genomes American Sub 694 C=0.548 A=0.452
Genetic variation in the Estonian population Estonian Study-wide 4478 C=0.6117 A=0.3883
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6059 A=0.3941
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.6084 A=0.3916
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6212 A=0.3788
Korean Genome Project KOREAN Study-wide 1832 C=0.6337 A=0.3663
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.609 A=0.391
Northern Sweden ACPOP Study-wide 600 C=0.625 A=0.375
SGDP_PRJ Global Study-wide 394 C=0.335 A=0.665
Qatari Global Study-wide 216 C=0.514 A=0.486
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 C=0.81 A=0.19
The Danish reference pan genome Danish Study-wide 40 C=0.50 A=0.50
Siberian Global Study-wide 38 C=0.47 A=0.53
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 8 NC_000008.11:g.220920C>A
GRCh37.p13 chr 8 NC_000008.10:g.170920C>A
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
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 C= A
GRCh38.p14 chr 8 NC_000008.11:g.220920= NC_000008.11:g.220920C>A
GRCh37.p13 chr 8 NC_000008.10:g.170920= NC_000008.10:g.170920C>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#.

60 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11927288 Jul 11, 2003 (116)
2 HGSV ss77570297 Dec 06, 2007 (129)
3 1000GENOMES ss112697410 Jan 25, 2009 (130)
4 1000GENOMES ss114756925 Jan 25, 2009 (130)
5 ILLUMINA-UK ss115818593 Dec 01, 2009 (131)
6 COMPLETE_GENOMICS ss161998399 Jul 04, 2010 (132)
7 COMPLETE_GENOMICS ss163647409 Jul 04, 2010 (132)
8 BUSHMAN ss198590131 Jul 04, 2010 (132)
9 BCM-HGSC-SUB ss206487835 Jul 04, 2010 (132)
10 1000GENOMES ss223456039 Jul 14, 2010 (132)
11 1000GENOMES ss234255508 Jul 15, 2010 (132)
12 1000GENOMES ss241149608 Jul 15, 2010 (132)
13 GMI ss279622805 May 04, 2012 (137)
14 PJP ss294058493 May 09, 2011 (134)
15 TISHKOFF ss560447237 Apr 25, 2013 (138)
16 SSMP ss654868452 Apr 25, 2013 (138)
17 EVA-GONL ss985033377 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1075153552 Aug 21, 2014 (142)
19 1000GENOMES ss1328017865 Aug 21, 2014 (142)
20 DDI ss1431355422 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1582491932 Apr 01, 2015 (144)
22 EVA_DECODE ss1594621435 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1619671294 Apr 01, 2015 (144)
24 EVA_UK10K_TWINSUK ss1662665327 Apr 01, 2015 (144)
25 HAMMER_LAB ss1805329229 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1928305466 Feb 12, 2016 (147)
27 GENOMED ss1970869478 Jul 19, 2016 (147)
28 JJLAB ss2024840582 Sep 14, 2016 (149)
29 USC_VALOUEV ss2153069488 Dec 20, 2016 (150)
30 HUMAN_LONGEVITY ss2299580478 Dec 20, 2016 (150)
31 SYSTEMSBIOZJU ss2626907901 Nov 08, 2017 (151)
32 GRF ss2708807504 Nov 08, 2017 (151)
33 GNOMAD ss2861624269 Nov 08, 2017 (151)
34 SWEGEN ss3002418616 Nov 08, 2017 (151)
35 BIOINF_KMB_FNS_UNIBA ss3026209452 Nov 08, 2017 (151)
36 CSHL ss3347960085 Nov 08, 2017 (151)
37 EGCUT_WGS ss3670139103 Jul 13, 2019 (153)
38 EVA_DECODE ss3721135436 Jul 13, 2019 (153)
39 ACPOP ss3735267444 Jul 13, 2019 (153)
40 EVA ss3767432896 Jul 13, 2019 (153)
41 KHV_HUMAN_GENOMES ss3810603383 Jul 13, 2019 (153)
42 EVA ss3830933673 Apr 26, 2020 (154)
43 EVA ss3838970125 Apr 26, 2020 (154)
44 EVA ss3844428289 Apr 26, 2020 (154)
45 SGDP_PRJ ss3868901129 Apr 26, 2020 (154)
46 KRGDB ss3916313527 Apr 26, 2020 (154)
47 KOGIC ss3963021551 Apr 26, 2020 (154)
48 EVA ss3985334693 Apr 26, 2021 (155)
49 TOPMED ss4771139797 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5186626454 Apr 26, 2021 (155)
51 1000G_HIGH_COVERAGE ss5275545392 Oct 13, 2022 (156)
52 EVA ss5378216163 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5565073451 Oct 13, 2022 (156)
54 SANFORD_IMAGENETICS ss5644451082 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5727956944 Oct 13, 2022 (156)
56 YY_MCH ss5809302434 Oct 13, 2022 (156)
57 EVA ss5829911739 Oct 13, 2022 (156)
58 EVA ss5856189155 Oct 13, 2022 (156)
59 EVA ss5887168401 Oct 13, 2022 (156)
60 EVA ss5973644611 Oct 13, 2022 (156)
61 1000Genomes NC_000008.10 - 170920 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000008.11 - 220920 Oct 13, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 170920 Oct 12, 2018 (152)
64 Genetic variation in the Estonian population NC_000008.10 - 170920 Oct 12, 2018 (152)
65 The Danish reference pan genome NC_000008.10 - 170920 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000008.11 - 220920 Apr 26, 2021 (155)
67 Genome of the Netherlands Release 5 NC_000008.10 - 170920 Apr 26, 2020 (154)
68 KOREAN population from KRGDB NC_000008.10 - 170920 Apr 26, 2020 (154)
69 Korean Genome Project NC_000008.11 - 220920 Apr 26, 2020 (154)
70 Northern Sweden NC_000008.10 - 170920 Jul 13, 2019 (153)
71 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 170920 Apr 26, 2021 (155)
72 Qatari NC_000008.10 - 170920 Apr 26, 2020 (154)
73 SGDP_PRJ NC_000008.10 - 170920 Apr 26, 2020 (154)
74 Siberian NC_000008.10 - 170920 Apr 26, 2020 (154)
75 8.3KJPN NC_000008.10 - 170920 Apr 26, 2021 (155)
76 14KJPN NC_000008.11 - 220920 Oct 13, 2022 (156)
77 TopMed NC_000008.11 - 220920 Apr 26, 2021 (155)
78 UK 10K study - Twins NC_000008.10 - 170920 Oct 12, 2018 (152)
79 ALFA NC_000008.11 - 220920 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77570297, ss112697410, ss114756925, ss115818593, ss161998399, ss163647409, ss198590131, ss206487835, ss279622805, ss294058493, ss1594621435 NC_000008.9:160919:C:A NC_000008.11:220919:C:A (self)
40094083, 22303185, 15877351, 8656870, 9954896, 23490921, 8552309, 560620, 10347396, 20918109, 5585842, 44595761, 22303185, ss223456039, ss234255508, ss241149608, ss560447237, ss654868452, ss985033377, ss1075153552, ss1328017865, ss1431355422, ss1582491932, ss1619671294, ss1662665327, ss1805329229, ss1928305466, ss1970869478, ss2024840582, ss2153069488, ss2626907901, ss2708807504, ss2861624269, ss3002418616, ss3347960085, ss3670139103, ss3735267444, ss3767432896, ss3830933673, ss3838970125, ss3868901129, ss3916313527, ss3985334693, ss5186626454, ss5378216163, ss5644451082, ss5829911739, ss5973644611 NC_000008.10:170919:C:A NC_000008.11:220919:C:A (self)
52599386, 283007151, 19399552, 61794048, 608517357, 12340906053, ss2299580478, ss3026209452, ss3721135436, ss3810603383, ss3844428289, ss3963021551, ss4771139797, ss5275545392, ss5565073451, ss5727956944, ss5809302434, ss5856189155, ss5887168401 NC_000008.11:220919:C:A NC_000008.11:220919:C:A (self)
ss11927288 NT_023736.15:124092:C:A NC_000008.11:220919:C: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 rs7822292

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