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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.

rs8188011

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:46248325 (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=0.116238 (30767/264690, TOPMED)
A=0.109533 (15045/137356, GnomAD)
A=0.15052 (4250/28236, 14KJPN) (+ 16 more)
A=0.07560 (1428/18890, ALFA)
A=0.15330 (2569/16758, 8.3KJPN)
A=0.1329 (851/6404, 1000G_30x)
A=0.1284 (643/5008, 1000G)
A=0.0340 (131/3854, ALSPAC)
A=0.0307 (114/3708, TWINSUK)
A=0.1440 (422/2930, KOREAN)
A=0.1545 (283/1832, Korea1K)
A=0.021 (21/998, GoNL)
A=0.035 (21/600, NorthernSweden)
A=0.051 (11/216, Qatari)
A=0.094 (20/212, Vietnamese)
C=0.422 (43/102, SGDP_PRJ)
A=0.03 (1/40, GENOME_DK)
C=0.5 (3/6, Siberian)
A=0.5 (3/6, 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 C=0.92440 A=0.07560
European Sub 14286 C=0.96339 A=0.03661
African Sub 2946 C=0.7441 A=0.2559
African Others Sub 114 C=0.640 A=0.360
African American Sub 2832 C=0.7482 A=0.2518
Asian Sub 112 C=0.812 A=0.188
East Asian Sub 86 C=0.83 A=0.17
Other Asian Sub 26 C=0.77 A=0.23
Latin American 1 Sub 146 C=0.918 A=0.082
Latin American 2 Sub 610 C=0.938 A=0.062
South Asian Sub 98 C=0.94 A=0.06
Other Sub 692 C=0.893 A=0.107


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=0.883762 A=0.116238
gnomAD - Genomes Global Study-wide 137356 C=0.890467 A=0.109533
gnomAD - Genomes European Sub 74162 C=0.96667 A=0.03333
gnomAD - Genomes African Sub 41528 C=0.74102 A=0.25898
gnomAD - Genomes American Sub 13276 C=0.91632 A=0.08368
gnomAD - Genomes Ashkenazi Jewish Sub 3268 C=0.9823 A=0.0177
gnomAD - Genomes East Asian Sub 3010 C=0.8495 A=0.1505
gnomAD - Genomes Other Sub 2112 C=0.9072 A=0.0928
14KJPN JAPANESE Study-wide 28236 C=0.84948 A=0.15052
Allele Frequency Aggregator Total Global 18890 C=0.92440 A=0.07560
Allele Frequency Aggregator European Sub 14286 C=0.96339 A=0.03661
Allele Frequency Aggregator African Sub 2946 C=0.7441 A=0.2559
Allele Frequency Aggregator Other Sub 692 C=0.893 A=0.107
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.938 A=0.062
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.918 A=0.082
Allele Frequency Aggregator Asian Sub 112 C=0.812 A=0.188
Allele Frequency Aggregator South Asian Sub 98 C=0.94 A=0.06
8.3KJPN JAPANESE Study-wide 16758 C=0.84670 A=0.15330
1000Genomes_30x Global Study-wide 6404 C=0.8671 A=0.1329
1000Genomes_30x African Sub 1786 C=0.7167 A=0.2833
1000Genomes_30x Europe Sub 1266 C=0.9747 A=0.0253
1000Genomes_30x South Asian Sub 1202 C=0.9401 A=0.0599
1000Genomes_30x East Asian Sub 1170 C=0.8709 A=0.1291
1000Genomes_30x American Sub 980 C=0.908 A=0.092
1000Genomes Global Study-wide 5008 C=0.8716 A=0.1284
1000Genomes African Sub 1322 C=0.7292 A=0.2708
1000Genomes East Asian Sub 1008 C=0.8710 A=0.1290
1000Genomes Europe Sub 1006 C=0.9702 A=0.0298
1000Genomes South Asian Sub 978 C=0.938 A=0.062
1000Genomes American Sub 694 C=0.908 A=0.092
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9660 A=0.0340
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9693 A=0.0307
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8560 A=0.1440
Korean Genome Project KOREAN Study-wide 1832 C=0.8455 A=0.1545
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.979 A=0.021
Northern Sweden ACPOP Study-wide 600 C=0.965 A=0.035
Qatari Global Study-wide 216 C=0.949 A=0.051
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.906 A=0.094
SGDP_PRJ Global Study-wide 102 C=0.422 A=0.578
The Danish reference pan genome Danish Study-wide 40 C=0.97 A=0.03
Siberian Global Study-wide 6 C=0.5 A=0.5
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 5 NC_000005.10:g.46248325C>A
GRCh37.p13 chr 5 NC_000005.9:g.46248427C>A
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 5 NC_000005.10:g.46248325= NC_000005.10:g.46248325C>A
GRCh37.p13 chr 5 NC_000005.9:g.46248427= NC_000005.9:g.46248427C>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#.

50 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12580797 Aug 27, 2003 (117)
2 WI_SSAHASNP ss13487317 Dec 05, 2003 (126)
3 SSAHASNP ss35505016 May 24, 2005 (125)
4 HGSV ss85764794 Dec 16, 2007 (130)
5 BCMHGSC_JDW ss93084173 Mar 24, 2008 (129)
6 1000GENOMES ss111787558 Jan 25, 2009 (130)
7 ILLUMINA-UK ss116597874 Dec 01, 2009 (131)
8 ENSEMBL ss143104803 Dec 01, 2009 (131)
9 COMPLETE_GENOMICS ss164858767 Jul 04, 2010 (132)
10 COMPLETE_GENOMICS ss166497714 Jul 04, 2010 (132)
11 BUSHMAN ss200201946 Jul 04, 2010 (132)
12 1000GENOMES ss221660796 Jul 14, 2010 (132)
13 1000GENOMES ss240107819 Jul 15, 2010 (132)
14 GMI ss278272247 May 04, 2012 (137)
15 TISHKOFF ss558370358 Apr 25, 2013 (138)
16 SSMP ss652230611 Apr 25, 2013 (138)
17 EVA-GONL ss981524515 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1072600952 Aug 21, 2014 (142)
19 1000GENOMES ss1314946610 Aug 21, 2014 (142)
20 EVA_GENOME_DK ss1581122004 Apr 01, 2015 (144)
21 EVA_UK10K_ALSPAC ss1612813170 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1655807203 Apr 01, 2015 (144)
23 HAMMER_LAB ss1803459227 Sep 08, 2015 (146)
24 WEILL_CORNELL_DGM ss1924784052 Feb 12, 2016 (147)
25 JJLAB ss2022995060 Sep 14, 2016 (149)
26 USC_VALOUEV ss2151147380 Dec 20, 2016 (150)
27 GRF ss2706686252 Nov 08, 2017 (151)
28 GNOMAD ss2824135813 Nov 08, 2017 (151)
29 SWEGEN ss2996860948 Nov 08, 2017 (151)
30 CSHL ss3346367679 Nov 08, 2017 (151)
31 EVA_DECODE ss3714609653 Jul 13, 2019 (153)
32 ACPOP ss3732321733 Jul 13, 2019 (153)
33 EVA ss3763385520 Jul 13, 2019 (153)
34 KHV_HUMAN_GENOMES ss3806558601 Jul 13, 2019 (153)
35 SGDP_PRJ ss3861771463 Apr 26, 2020 (154)
36 KRGDB ss3908271890 Apr 26, 2020 (154)
37 KOGIC ss3956566846 Apr 26, 2020 (154)
38 TOPMED ss4658606719 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5171557170 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5263804430 Oct 13, 2022 (156)
41 EVA ss5357315156 Oct 13, 2022 (156)
42 HUGCELL_USP ss5462039484 Oct 13, 2022 (156)
43 EVA ss5508007374 Oct 13, 2022 (156)
44 1000G_HIGH_COVERAGE ss5547353881 Oct 13, 2022 (156)
45 SANFORD_IMAGENETICS ss5637724985 Oct 13, 2022 (156)
46 TOMMO_GENOMICS ss5707557027 Oct 13, 2022 (156)
47 YY_MCH ss5806249897 Oct 13, 2022 (156)
48 EVA ss5834877084 Oct 13, 2022 (156)
49 EVA ss5894033783 Oct 13, 2022 (156)
50 EVA ss5966150295 Oct 13, 2022 (156)
51 1000Genomes NC_000005.9 - 46248427 Oct 12, 2018 (152)
52 1000Genomes_30x NC_000005.10 - 46248325 Oct 13, 2022 (156)
53 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 46248427 Oct 12, 2018 (152)
54 The Danish reference pan genome NC_000005.9 - 46248427 Apr 26, 2020 (154)
55 gnomAD - Genomes NC_000005.10 - 46248325 Apr 26, 2021 (155)
56 Genome of the Netherlands Release 5 NC_000005.9 - 46248427 Apr 26, 2020 (154)
57 KOREAN population from KRGDB NC_000005.9 - 46248427 Apr 26, 2020 (154)
58 Korean Genome Project NC_000005.10 - 46248325 Apr 26, 2020 (154)
59 Northern Sweden NC_000005.9 - 46248427 Jul 13, 2019 (153)
60 Qatari NC_000005.9 - 46248427 Apr 26, 2020 (154)
61 SGDP_PRJ NC_000005.9 - 46248427 Apr 26, 2020 (154)
62 Siberian NC_000005.9 - 46248427 Apr 26, 2020 (154)
63 8.3KJPN NC_000005.9 - 46248427 Apr 26, 2021 (155)
64 14KJPN NC_000005.10 - 46248325 Oct 13, 2022 (156)
65 TopMed NC_000005.10 - 46248325 Apr 26, 2021 (155)
66 UK 10K study - Twins NC_000005.9 - 46248427 Oct 12, 2018 (152)
67 A Vietnamese Genetic Variation Database NC_000005.9 - 46248427 Jul 13, 2019 (153)
68 ALFA NC_000005.10 - 46248325 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)
rs9687196 Mar 10, 2006 (126)
rs61445948 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss35505016, ss85764794, ss93084173, ss111787558, ss116597874, ss164858767, ss166497714, ss200201946, ss278272247 NC_000005.8:46284183:C:A NC_000005.10:46248324:C:A (self)
26540917, 14757591, 7286943, 6558571, 15449284, 5606598, 6825982, 13788443, 3663734, 29526477, 14757591, 3278938, ss221660796, ss240107819, ss558370358, ss652230611, ss981524515, ss1072600952, ss1314946610, ss1581122004, ss1612813170, ss1655807203, ss1803459227, ss1924784052, ss2022995060, ss2151147380, ss2706686252, ss2824135813, ss2996860948, ss3346367679, ss3732321733, ss3763385520, ss3861771463, ss3908271890, ss5171557170, ss5357315156, ss5508007374, ss5637724985, ss5834877084, ss5966150295 NC_000005.9:46248426:C:A NC_000005.10:46248324:C:A (self)
34879816, 187510753, 12944847, 41394131, 495984276, 15977582780, ss3714609653, ss3806558601, ss3956566846, ss4658606719, ss5263804430, ss5462039484, ss5547353881, ss5707557027, ss5806249897, ss5894033783 NC_000005.10:46248324:C:A NC_000005.10:46248324:C:A (self)
ss13487317 NT_006576.14:28700532:C:A NC_000005.10:46248324:C:A (self)
ss12580797, ss143104803 NT_006576.16:46238426:C:A NC_000005.10:46248324: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 rs8188011

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