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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.

rs11152199

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:60010621 (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 / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.196815 (52095/264690, TOPMED)
A=0.00453 (128/28256, 14KJPN)
A=0.00412 (69/16758, 8.3KJPN) (+ 15 more)
A=0.11564 (1687/14588, ALFA)
A=0.1569 (1005/6404, 1000G_30x)
A=0.1562 (782/5008, 1000G)
A=0.2372 (914/3854, ALSPAC)
A=0.2387 (885/3708, TWINSUK)
A=0.0075 (22/2922, KOREAN)
A=0.0093 (17/1832, Korea1K)
A=0.289 (288/998, GoNL)
A=0.252 (151/600, NorthernSweden)
A=0.187 (100/534, MGP)
A=0.181 (39/216, Qatari)
A=0.037 (8/214, Vietnamese)
A=0.000 (0/194, HapMap)
C=0.455 (61/134, SGDP_PRJ)
C=0.17 (2/12, 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 14588 C=0.88436 A=0.11564, T=0.00000
European Sub 11038 C=0.85197 A=0.14803, T=0.00000
African Sub 2370 C=0.9945 A=0.0055, T=0.0000
African Others Sub 92 C=1.00 A=0.00, T=0.00
African American Sub 2278 C=0.9943 A=0.0057, T=0.0000
Asian Sub 106 C=1.000 A=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, T=0.00
Other Asian Sub 20 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 84 C=1.00 A=0.00, T=0.00
Latin American 2 Sub 368 C=1.000 A=0.000, T=0.000
South Asian Sub 72 C=1.00 A=0.00, T=0.00
Other Sub 550 C=0.927 A=0.073, T=0.000


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=0.803185 A=0.196815
14KJPN JAPANESE Study-wide 28256 C=0.99547 A=0.00453
8.3KJPN JAPANESE Study-wide 16758 C=0.99588 A=0.00412
Allele Frequency Aggregator Total Global 14588 C=0.88436 A=0.11564, T=0.00000
Allele Frequency Aggregator European Sub 11038 C=0.85197 A=0.14803, T=0.00000
Allele Frequency Aggregator African Sub 2370 C=0.9945 A=0.0055, T=0.0000
Allele Frequency Aggregator Other Sub 550 C=0.927 A=0.073, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 368 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 106 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 84 C=1.00 A=0.00, T=0.00
Allele Frequency Aggregator South Asian Sub 72 C=1.00 A=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.8431 A=0.1569
1000Genomes_30x African Sub 1786 C=0.8891 A=0.1109
1000Genomes_30x Europe Sub 1266 C=0.7844 A=0.2156
1000Genomes_30x South Asian Sub 1202 C=0.7804 A=0.2196
1000Genomes_30x East Asian Sub 1170 C=0.9752 A=0.0248
1000Genomes_30x American Sub 980 C=0.754 A=0.246
1000Genomes Global Study-wide 5008 C=0.8438 A=0.1562
1000Genomes African Sub 1322 C=0.8858 A=0.1142
1000Genomes East Asian Sub 1008 C=0.9762 A=0.0238
1000Genomes Europe Sub 1006 C=0.7714 A=0.2286
1000Genomes South Asian Sub 978 C=0.784 A=0.216
1000Genomes American Sub 694 C=0.761 A=0.239
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7628 A=0.2372
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7613 A=0.2387
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9925 A=0.0075
Korean Genome Project KOREAN Study-wide 1832 C=0.9907 A=0.0093
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.711 A=0.289
Northern Sweden ACPOP Study-wide 600 C=0.748 A=0.252
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.813 A=0.187
Qatari Global Study-wide 216 C=0.819 A=0.181
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.963 A=0.037
HapMap Global Study-wide 194 C=1.000 A=0.000
HapMap African Sub 106 C=1.000 A=0.000
HapMap Asian Sub 88 C=1.00 A=0.00
SGDP_PRJ Global Study-wide 134 C=0.455 A=0.545
Siberian Global Study-wide 12 C=0.17 A=0.83
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.60010621C>A
GRCh38.p14 chr 18 NC_000018.10:g.60010621C>T
GRCh37.p13 chr 18 NC_000018.9:g.57677853C>A
GRCh37.p13 chr 18 NC_000018.9:g.57677853C>T
ENTR1P1 pseudogene NG_005510.4:g.644G>T
ENTR1P1 pseudogene NG_005510.4:g.644G>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 T
GRCh38.p14 chr 18 NC_000018.10:g.60010621= NC_000018.10:g.60010621C>A NC_000018.10:g.60010621C>T
GRCh37.p13 chr 18 NC_000018.9:g.57677853= NC_000018.9:g.57677853C>A NC_000018.9:g.57677853C>T
ENTR1P1 pseudogene NG_005510.4:g.644= NG_005510.4:g.644G>T NG_005510.4:g.644G>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#.

53 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15840486 Feb 27, 2004 (120)
2 SC_SNP ss19008069 Feb 27, 2004 (120)
3 SSAHASNP ss21485292 Apr 05, 2004 (121)
4 ABI ss40952291 Mar 14, 2006 (126)
5 AFFY ss74805890 Aug 16, 2007 (128)
6 HUMANGENOME_JCVI ss96516874 Feb 05, 2009 (130)
7 1000GENOMES ss110654575 Jan 25, 2009 (130)
8 ENSEMBL ss136390031 Dec 01, 2009 (131)
9 BUSHMAN ss203358333 Jul 04, 2010 (132)
10 1000GENOMES ss227907787 Jul 14, 2010 (132)
11 1000GENOMES ss237502074 Jul 15, 2010 (132)
12 TISHKOFF ss565697177 Apr 25, 2013 (138)
13 SSMP ss661532874 Apr 25, 2013 (138)
14 EVA-GONL ss993822203 Aug 21, 2014 (142)
15 JMKIDD_LAB ss1081569594 Aug 21, 2014 (142)
16 1000GENOMES ss1361378865 Aug 21, 2014 (142)
17 EVA_UK10K_ALSPAC ss1637069448 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1680063481 Apr 01, 2015 (144)
19 EVA_DECODE ss1697884029 Apr 01, 2015 (144)
20 EVA_MGP ss1711487822 Apr 01, 2015 (144)
21 HAMMER_LAB ss1809090479 Sep 08, 2015 (146)
22 WEILL_CORNELL_DGM ss1937289843 Feb 12, 2016 (147)
23 GENOMED ss1968545491 Jul 19, 2016 (147)
24 JJLAB ss2029415727 Sep 14, 2016 (149)
25 USC_VALOUEV ss2157923283 Dec 20, 2016 (150)
26 GNOMAD ss2957682074 Nov 08, 2017 (151)
27 SWEGEN ss3016671266 Nov 08, 2017 (151)
28 BIOINF_KMB_FNS_UNIBA ss3028537802 Nov 08, 2017 (151)
29 CSHL ss3352065580 Nov 08, 2017 (151)
30 OMUKHERJEE_ADBS ss3646524237 Oct 12, 2018 (152)
31 URBANLAB ss3650809519 Oct 12, 2018 (152)
32 EVA_DECODE ss3701836230 Jul 13, 2019 (153)
33 ACPOP ss3742622164 Jul 13, 2019 (153)
34 EVA ss3755502060 Jul 13, 2019 (153)
35 KHV_HUMAN_GENOMES ss3820757089 Jul 13, 2019 (153)
36 EVA ss3835215527 Apr 27, 2020 (154)
37 SGDP_PRJ ss3887202032 Apr 27, 2020 (154)
38 KRGDB ss3937094759 Apr 27, 2020 (154)
39 KOGIC ss3980319263 Apr 27, 2020 (154)
40 TOPMED ss5059816834 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5225569660 Apr 26, 2021 (155)
42 1000G_HIGH_COVERAGE ss5305600321 Oct 16, 2022 (156)
43 EVA ss5431988716 Oct 16, 2022 (156)
44 HUGCELL_USP ss5498339339 Oct 16, 2022 (156)
45 1000G_HIGH_COVERAGE ss5610599142 Oct 16, 2022 (156)
46 SANFORD_IMAGENETICS ss5661469755 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5783475881 Oct 16, 2022 (156)
48 YY_MCH ss5817176306 Oct 16, 2022 (156)
49 EVA ss5827668237 Oct 16, 2022 (156)
50 EVA ss5852091647 Oct 16, 2022 (156)
51 EVA ss5874442525 Oct 16, 2022 (156)
52 EVA ss5952896735 Oct 16, 2022 (156)
53 EVA ss5981306694 Oct 16, 2022 (156)
54 1000Genomes NC_000018.9 - 57677853 Oct 12, 2018 (152)
55 1000Genomes_30x NC_000018.10 - 60010621 Oct 16, 2022 (156)
56 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 57677853 Oct 12, 2018 (152)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 527087401 (NC_000018.10:60010620:C:A 28564/140122)
Row 527087402 (NC_000018.10:60010620:C:T 1/140154)

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 527087401 (NC_000018.10:60010620:C:A 28564/140122)
Row 527087402 (NC_000018.10:60010620:C:T 1/140154)

- Apr 26, 2021 (155)
59 Genome of the Netherlands Release 5 NC_000018.9 - 57677853 Apr 27, 2020 (154)
60 HapMap NC_000018.10 - 60010621 Apr 27, 2020 (154)
61 KOREAN population from KRGDB NC_000018.9 - 57677853 Apr 27, 2020 (154)
62 Korean Genome Project NC_000018.10 - 60010621 Apr 27, 2020 (154)
63 Medical Genome Project healthy controls from Spanish population NC_000018.9 - 57677853 Apr 27, 2020 (154)
64 Northern Sweden NC_000018.9 - 57677853 Jul 13, 2019 (153)
65 Qatari NC_000018.9 - 57677853 Apr 27, 2020 (154)
66 SGDP_PRJ NC_000018.9 - 57677853 Apr 27, 2020 (154)
67 Siberian NC_000018.9 - 57677853 Apr 27, 2020 (154)
68 8.3KJPN NC_000018.9 - 57677853 Apr 26, 2021 (155)
69 14KJPN NC_000018.10 - 60010621 Oct 16, 2022 (156)
70 TopMed NC_000018.10 - 60010621 Apr 26, 2021 (155)
71 UK 10K study - Twins NC_000018.9 - 57677853 Oct 12, 2018 (152)
72 A Vietnamese Genetic Variation Database NC_000018.9 - 57677853 Jul 13, 2019 (153)
73 ALFA NC_000018.10 - 60010621 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)
rs52810560 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss110654575, ss203358333, ss1697884029 NC_000018.8:55828832:C:A NC_000018.10:60010620:C:A (self)
74720625, 41412101, 18447892, 44272153, 603582, 15907029, 19331765, 39219012, 10439637, 83538967, 41412101, 9149437, ss227907787, ss237502074, ss565697177, ss661532874, ss993822203, ss1081569594, ss1361378865, ss1637069448, ss1680063481, ss1711487822, ss1809090479, ss1937289843, ss1968545491, ss2029415727, ss2157923283, ss2957682074, ss3016671266, ss3352065580, ss3646524237, ss3742622164, ss3755502060, ss3835215527, ss3887202032, ss3937094759, ss5225569660, ss5431988716, ss5661469755, ss5827668237, ss5952896735, ss5981306694 NC_000018.9:57677852:C:A NC_000018.10:60010620:C:A (self)
98125077, 1620735, 36697264, 117312985, 275362497, 1025151184, ss3028537802, ss3650809519, ss3701836230, ss3820757089, ss3980319263, ss5059816834, ss5305600321, ss5498339339, ss5610599142, ss5783475881, ss5817176306, ss5852091647, ss5874442525 NC_000018.10:60010620:C:A NC_000018.10:60010620:C:A (self)
ss15840486, ss19008069, ss21485292 NT_025028.13:5468698:C:A NC_000018.10:60010620:C:A (self)
ss40952291, ss74805890, ss96516874, ss136390031 NT_025028.14:5468716:C:A NC_000018.10:60010620:C:A (self)
1025151184 NC_000018.10:60010620:C:T NC_000018.10:60010620:C:T (self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2387710292 NC_000018.9:57677852:C:T NC_000018.10:60010620:C:T
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 rs11152199

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