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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.

rs190166707

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:131801 (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=0.00000 (0/14410, ALFA)
T=0.00000 (0/14410, ALFA)
T=0.0006 (4/6404, 1000G_30x) (+ 2 more)
T=0.0008 (4/5008, 1000G)
T=0.0005 (1/1832, Korea1K)
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 14410 C=1.00000 A=0.00000, T=0.00000
European Sub 9824 C=1.0000 A=0.0000, T=0.0000
African Sub 2936 C=1.0000 A=0.0000, T=0.0000
African Others Sub 112 C=1.000 A=0.000, T=0.000
African American Sub 2824 C=1.0000 A=0.0000, T=0.0000
Asian Sub 112 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 26 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 684 C=1.000 A=0.000, 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
Allele Frequency Aggregator Total Global 14410 C=1.00000 A=0.00000, T=0.00000
Allele Frequency Aggregator European Sub 9824 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator African Sub 2936 C=1.0000 A=0.0000, T=0.0000
Allele Frequency Aggregator Other Sub 684 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 112 C=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 A=0.00, T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9994 T=0.0006
1000Genomes_30x African Sub 1786 C=0.9989 T=0.0011
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=0.9983 T=0.0017
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=1.000 T=0.000
1000Genomes Global Study-wide 5008 C=0.9992 T=0.0008
1000Genomes African Sub 1322 C=0.9985 T=0.0015
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=0.998 T=0.002
1000Genomes American Sub 694 C=1.000 T=0.000
Korean Genome Project KOREAN Study-wide 1832 C=0.9995 T=0.0005
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.131801C>A
GRCh38.p14 chr 18 NC_000018.10:g.131801C>T
GRCh37.p13 chr 18 NC_000018.9:g.131801C>A
GRCh37.p13 chr 18 NC_000018.9:g.131801C>T
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.131801= NC_000018.10:g.131801C>A NC_000018.10:g.131801C>T
GRCh37.p13 chr 18 NC_000018.9:g.131801= NC_000018.9:g.131801C>A NC_000018.9:g.131801C>T
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#.

19 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss465089187 Sep 17, 2011 (135)
2 WARNICH_LAB ss678425343 Apr 25, 2013 (138)
3 1000GENOMES ss1359815929 Aug 21, 2014 (142)
4 HUMAN_LONGEVITY ss2219188624 Dec 20, 2016 (150)
5 GNOMAD ss2953245299 Nov 08, 2017 (151)
6 KOGIC ss3979451794 Apr 27, 2020 (154)
7 TOPMED ss5046077979 Apr 26, 2021 (155)
8 TOPMED ss5046077980 Apr 26, 2021 (155)
9 TOMMO_GENOMICS ss5223816255 Apr 26, 2021 (155)
10 TOMMO_GENOMICS ss5223816256 Apr 26, 2021 (155)
11 1000G_HIGH_COVERAGE ss5304190465 Oct 16, 2022 (156)
12 EVA ss5429481731 Oct 16, 2022 (156)
13 HUGCELL_USP ss5497123093 Oct 16, 2022 (156)
14 1000G_HIGH_COVERAGE ss5608394918 Oct 16, 2022 (156)
15 SANFORD_IMAGENETICS ss5660682929 Oct 16, 2022 (156)
16 TOMMO_GENOMICS ss5780486236 Oct 16, 2022 (156)
17 TOMMO_GENOMICS ss5780486237 Oct 16, 2022 (156)
18 EVA ss5872881680 Oct 16, 2022 (156)
19 EVA ss5952081642 Oct 16, 2022 (156)
20 1000Genomes NC_000018.9 - 131801 Oct 12, 2018 (152)
21 1000Genomes_30x NC_000018.10 - 131801 Oct 16, 2022 (156)
22 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 515825809 (NC_000018.10:131800:C:A 3/140194)
Row 515825810 (NC_000018.10:131800:C:T 46/140194)

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

Submission ignored due to conflicting rows:
Row 515825809 (NC_000018.10:131800:C:A 3/140194)
Row 515825810 (NC_000018.10:131800:C:T 46/140194)

- Apr 26, 2021 (155)
24 Korean Genome Project NC_000018.10 - 131801 Apr 27, 2020 (154)
25 8.3KJPN

Submission ignored due to conflicting rows:
Row 81785562 (NC_000018.9:131800:C:T 3/16756)
Row 81785563 (NC_000018.9:131800:C:A 1/16756)

- Apr 26, 2021 (155)
26 8.3KJPN

Submission ignored due to conflicting rows:
Row 81785562 (NC_000018.9:131800:C:T 3/16756)
Row 81785563 (NC_000018.9:131800:C:A 1/16756)

- Apr 26, 2021 (155)
27 14KJPN

Submission ignored due to conflicting rows:
Row 114323340 (NC_000018.10:131800:C:T 2/28250)
Row 114323341 (NC_000018.10:131800:C:A 1/28250)

- Oct 16, 2022 (156)
28 14KJPN

Submission ignored due to conflicting rows:
Row 114323340 (NC_000018.10:131800:C:T 2/28250)
Row 114323341 (NC_000018.10:131800:C:A 1/28250)

- Oct 16, 2022 (156)
29 TopMed

Submission ignored due to conflicting rows:
Row 261623642 (NC_000018.10:131800:C:A 11/264690)
Row 261623643 (NC_000018.10:131800:C:T 68/264690)

- Apr 26, 2021 (155)
30 TopMed

Submission ignored due to conflicting rows:
Row 261623642 (NC_000018.10:131800:C:A 11/264690)
Row 261623643 (NC_000018.10:131800:C:T 68/264690)

- Apr 26, 2021 (155)
31 ALFA NC_000018.10 - 131801 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
ss2953245299, ss5223816256 NC_000018.9:131800:C:A NC_000018.10:131800:C:A (self)
3533658472, ss5046077979, ss5780486237 NC_000018.10:131800:C:A NC_000018.10:131800:C:A (self)
73101823, ss465089187, ss678425343, ss1359815929, ss2953245299, ss5223816255, ss5429481731, ss5660682929, ss5952081642 NC_000018.9:131800:C:T NC_000018.10:131800:C:T (self)
95920853, 35829795, 3533658472, ss2219188624, ss3979451794, ss5046077980, ss5304190465, ss5497123093, ss5608394918, ss5780486236, ss5872881680 NC_000018.10:131800:C:T NC_000018.10:131800:C:T (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 rs190166707

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