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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs8089922

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:70353287 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.168159 (44510/264690, TOPMED)
G=0.180894 (25345/140110, GnomAD)
G=0.15277 (4317/28258, 14KJPN) (+ 16 more)
G=0.21652 (4090/18890, ALFA)
G=0.15143 (2538/16760, 8.3KJPN)
G=0.1387 (888/6404, 1000G_30x)
G=0.1446 (724/5008, 1000G)
G=0.2719 (1218/4480, Estonian)
G=0.2540 (979/3854, ALSPAC)
G=0.2700 (1001/3708, TWINSUK)
G=0.1679 (492/2930, KOREAN)
G=0.266 (265/998, GoNL)
G=0.267 (160/600, NorthernSweden)
G=0.171 (37/216, Qatari)
G=0.181 (39/216, Vietnamese)
A=0.430 (80/186, SGDP_PRJ)
G=0.28 (11/40, GENOME_DK)
A=0.50 (10/20, Siberian)
G=0.50 (10/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 18890 A=0.78348 G=0.21652
European Sub 14286 A=0.74052 G=0.25948
African Sub 2946 A=0.9532 G=0.0468
African Others Sub 114 A=1.000 G=0.000
African American Sub 2832 A=0.9513 G=0.0487
Asian Sub 112 A=0.821 G=0.179
East Asian Sub 86 A=0.83 G=0.17
Other Asian Sub 26 A=0.81 G=0.19
Latin American 1 Sub 146 A=0.884 G=0.116
Latin American 2 Sub 610 A=0.861 G=0.139
South Asian Sub 98 A=0.83 G=0.17
Other Sub 692 A=0.847 G=0.153


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 A=0.831841 G=0.168159
gnomAD - Genomes Global Study-wide 140110 A=0.819106 G=0.180894
gnomAD - Genomes European Sub 75858 A=0.74447 G=0.25553
gnomAD - Genomes African Sub 42006 A=0.95165 G=0.04835
gnomAD - Genomes American Sub 13640 A=0.84633 G=0.15367
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.7070 G=0.2930
gnomAD - Genomes East Asian Sub 3134 A=0.8535 G=0.1465
gnomAD - Genomes Other Sub 2148 A=0.8133 G=0.1867
14KJPN JAPANESE Study-wide 28258 A=0.84723 G=0.15277
Allele Frequency Aggregator Total Global 18890 A=0.78348 G=0.21652
Allele Frequency Aggregator European Sub 14286 A=0.74052 G=0.25948
Allele Frequency Aggregator African Sub 2946 A=0.9532 G=0.0468
Allele Frequency Aggregator Other Sub 692 A=0.847 G=0.153
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.861 G=0.139
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.884 G=0.116
Allele Frequency Aggregator Asian Sub 112 A=0.821 G=0.179
Allele Frequency Aggregator South Asian Sub 98 A=0.83 G=0.17
8.3KJPN JAPANESE Study-wide 16760 A=0.84857 G=0.15143
1000Genomes_30x Global Study-wide 6404 A=0.8613 G=0.1387
1000Genomes_30x African Sub 1786 A=0.9933 G=0.0067
1000Genomes_30x Europe Sub 1266 A=0.7433 G=0.2567
1000Genomes_30x South Asian Sub 1202 A=0.8228 G=0.1772
1000Genomes_30x East Asian Sub 1170 A=0.8350 G=0.1650
1000Genomes_30x American Sub 980 A=0.852 G=0.148
1000Genomes Global Study-wide 5008 A=0.8554 G=0.1446
1000Genomes African Sub 1322 A=0.9924 G=0.0076
1000Genomes East Asian Sub 1008 A=0.8313 G=0.1687
1000Genomes Europe Sub 1006 A=0.7346 G=0.2654
1000Genomes South Asian Sub 978 A=0.822 G=0.178
1000Genomes American Sub 694 A=0.852 G=0.148
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7281 G=0.2719
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7460 G=0.2540
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7300 G=0.2700
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8321 G=0.1679
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.734 G=0.266
Northern Sweden ACPOP Study-wide 600 A=0.733 G=0.267
Qatari Global Study-wide 216 A=0.829 G=0.171
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.819 G=0.181
SGDP_PRJ Global Study-wide 186 A=0.430 G=0.570
The Danish reference pan genome Danish Study-wide 40 A=0.72 G=0.28
Siberian Global Study-wide 20 A=0.50 G=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 18 NC_000018.10:g.70353287A>G
GRCh37.p13 chr 18 NC_000018.9:g.68020523A>G
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 A= G
GRCh38.p14 chr 18 NC_000018.10:g.70353287= NC_000018.10:g.70353287A>G
GRCh37.p13 chr 18 NC_000018.9:g.68020523= NC_000018.9:g.68020523A>G
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#.

52 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12430332 Jul 11, 2003 (116)
2 ABI ss40918059 Mar 15, 2006 (126)
3 HUMANGENOME_JCVI ss96522256 Feb 04, 2009 (130)
4 ENSEMBL ss136363318 Dec 01, 2009 (131)
5 GMI ss155375596 Dec 01, 2009 (131)
6 COMPLETE_GENOMICS ss171959500 Jul 04, 2010 (132)
7 1000GENOMES ss237534546 Jul 15, 2010 (132)
8 1000GENOMES ss243769881 Jul 15, 2010 (132)
9 GMI ss283055201 May 04, 2012 (137)
10 GMI ss287314130 Apr 25, 2013 (138)
11 PJP ss292101790 May 09, 2011 (134)
12 SSMP ss661586278 Apr 25, 2013 (138)
13 EVA-GONL ss993906027 Aug 21, 2014 (142)
14 JMKIDD_LAB ss1081634393 Aug 21, 2014 (142)
15 1000GENOMES ss1361682085 Aug 21, 2014 (142)
16 DDI ss1428274842 Apr 01, 2015 (144)
17 EVA_GENOME_DK ss1578478225 Apr 01, 2015 (144)
18 EVA_UK10K_ALSPAC ss1637232069 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1680226102 Apr 01, 2015 (144)
20 WEILL_CORNELL_DGM ss1937373966 Feb 12, 2016 (147)
21 JJLAB ss2029461283 Sep 14, 2016 (149)
22 USC_VALOUEV ss2157968313 Dec 20, 2016 (150)
23 HUMAN_LONGEVITY ss2222932126 Dec 20, 2016 (150)
24 SYSTEMSBIOZJU ss2629229223 Nov 08, 2017 (151)
25 GRF ss2702564326 Nov 08, 2017 (151)
26 GNOMAD ss2958526273 Nov 08, 2017 (151)
27 SWEGEN ss3016794915 Nov 08, 2017 (151)
28 BIOINF_KMB_FNS_UNIBA ss3028560778 Nov 08, 2017 (151)
29 CSHL ss3352103970 Nov 08, 2017 (151)
30 URBANLAB ss3650827966 Oct 12, 2018 (152)
31 EGCUT_WGS ss3683647689 Jul 13, 2019 (153)
32 EVA_DECODE ss3701987227 Jul 13, 2019 (153)
33 ACPOP ss3742694436 Jul 13, 2019 (153)
34 EVA ss3755596436 Jul 13, 2019 (153)
35 KHV_HUMAN_GENOMES ss3820853797 Jul 13, 2019 (153)
36 EVA ss3835256788 Apr 27, 2020 (154)
37 SGDP_PRJ ss3887364886 Apr 27, 2020 (154)
38 KRGDB ss3937265113 Apr 27, 2020 (154)
39 TOPMED ss5062453401 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5225903255 Apr 26, 2021 (155)
41 1000G_HIGH_COVERAGE ss5305867403 Oct 16, 2022 (156)
42 EVA ss5432474432 Oct 16, 2022 (156)
43 HUGCELL_USP ss5498583920 Oct 16, 2022 (156)
44 EVA ss5512000521 Oct 16, 2022 (156)
45 1000G_HIGH_COVERAGE ss5611006819 Oct 16, 2022 (156)
46 SANFORD_IMAGENETICS ss5661627527 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5783903488 Oct 16, 2022 (156)
48 YY_MCH ss5817244623 Oct 16, 2022 (156)
49 EVA ss5827775335 Oct 16, 2022 (156)
50 EVA ss5852128683 Oct 16, 2022 (156)
51 EVA ss5874749469 Oct 16, 2022 (156)
52 EVA ss5953058653 Oct 16, 2022 (156)
53 1000Genomes NC_000018.9 - 68020523 Oct 12, 2018 (152)
54 1000Genomes_30x NC_000018.10 - 70353287 Oct 16, 2022 (156)
55 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 68020523 Oct 12, 2018 (152)
56 Genetic variation in the Estonian population NC_000018.9 - 68020523 Oct 12, 2018 (152)
57 The Danish reference pan genome NC_000018.9 - 68020523 Apr 27, 2020 (154)
58 gnomAD - Genomes NC_000018.10 - 70353287 Apr 26, 2021 (155)
59 Genome of the Netherlands Release 5 NC_000018.9 - 68020523 Apr 27, 2020 (154)
60 KOREAN population from KRGDB NC_000018.9 - 68020523 Apr 27, 2020 (154)
61 Northern Sweden NC_000018.9 - 68020523 Jul 13, 2019 (153)
62 Qatari NC_000018.9 - 68020523 Apr 27, 2020 (154)
63 SGDP_PRJ NC_000018.9 - 68020523 Apr 27, 2020 (154)
64 Siberian NC_000018.9 - 68020523 Apr 27, 2020 (154)
65 8.3KJPN NC_000018.9 - 68020523 Apr 26, 2021 (155)
66 14KJPN NC_000018.10 - 70353287 Oct 16, 2022 (156)
67 TopMed NC_000018.10 - 70353287 Apr 26, 2021 (155)
68 UK 10K study - Twins NC_000018.9 - 68020523 Oct 12, 2018 (152)
69 A Vietnamese Genetic Variation Database NC_000018.9 - 68020523 Jul 13, 2019 (153)
70 ALFA NC_000018.10 - 70353287 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
ss171959500, ss283055201, ss287314130, ss292101790 NC_000018.8:66171502:A:G NC_000018.10:70353286:A:G (self)
75035359, 41591397, 29385937, 4667184, 18529688, 44442507, 15979301, 19415888, 39381866, 10484667, 83872562, 41591397, 9193481, ss237534546, ss243769881, ss661586278, ss993906027, ss1081634393, ss1361682085, ss1428274842, ss1578478225, ss1637232069, ss1680226102, ss1937373966, ss2029461283, ss2157968313, ss2629229223, ss2702564326, ss2958526273, ss3016794915, ss3352103970, ss3683647689, ss3742694436, ss3755596436, ss3835256788, ss3887364886, ss3937265113, ss5225903255, ss5432474432, ss5512000521, ss5661627527, ss5827775335, ss5953058653 NC_000018.9:68020522:A:G NC_000018.10:70353286:A:G (self)
98532754, 529256821, 117740592, 277999064, 12504695906, ss2222932126, ss3028560778, ss3650827966, ss3701987227, ss3820853797, ss5062453401, ss5305867403, ss5498583920, ss5611006819, ss5783903488, ss5817244623, ss5852128683, ss5874749469 NC_000018.10:70353286:A:G NC_000018.10:70353286:A:G (self)
ss12430332 NT_025028.13:15811368:A:G NC_000018.10:70353286:A:G (self)
ss40918059, ss96522256, ss136363318, ss155375596 NT_025028.14:15811386:A:G NC_000018.10:70353286:A:G (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 rs8089922

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