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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.

rs188810925

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:43720826 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.045941 (12160/264690, TOPMED)
A=0.054552 (7641/140068, GnomAD)
A=0.06893 (1302/18890, ALFA) (+ 9 more)
A=0.00006 (1/16760, 8.3KJPN)
A=0.0233 (149/6404, 1000G_30x)
A=0.0232 (116/5008, 1000G)
A=0.1027 (460/4480, Estonian)
A=0.107 (64/600, NorthernSweden)
G=0.50 (8/16, SGDP_PRJ)
A=0.50 (8/16, SGDP_PRJ)
G=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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 18890 G=0.93107 A=0.06893 0.867125 0.004976 0.127898 0
European Sub 14286 G=0.91628 A=0.08372 0.839143 0.00658 0.154277 0
African Sub 2946 G=0.9871 A=0.0129 0.974202 0.0 0.025798 0
African Others Sub 114 G=1.000 A=0.000 1.0 0.0 0.0 N/A
African American Sub 2832 G=0.9866 A=0.0134 0.973164 0.0 0.026836 0
Asian Sub 112 G=1.000 A=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 A=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=0.973 A=0.027 0.945205 0.0 0.054795 0
Latin American 2 Sub 610 G=0.949 A=0.051 0.898361 0.0 0.101639 1
South Asian Sub 98 G=0.98 A=0.02 0.959184 0.0 0.040816 0
Other Sub 692 G=0.955 A=0.045 0.910405 0.0 0.089595 0


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 G=0.954059 A=0.045941
gnomAD - Genomes Global Study-wide 140068 G=0.945448 A=0.054552
gnomAD - Genomes European Sub 75840 G=0.91566 A=0.08434
gnomAD - Genomes African Sub 41982 G=0.98664 A=0.01336
gnomAD - Genomes American Sub 13646 G=0.96248 A=0.03752
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9822 A=0.0178
gnomAD - Genomes East Asian Sub 3130 G=0.9997 A=0.0003
gnomAD - Genomes Other Sub 2150 G=0.9479 A=0.0521
Allele Frequency Aggregator Total Global 18890 G=0.93107 A=0.06893
Allele Frequency Aggregator European Sub 14286 G=0.91628 A=0.08372
Allele Frequency Aggregator African Sub 2946 G=0.9871 A=0.0129
Allele Frequency Aggregator Other Sub 692 G=0.955 A=0.045
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.949 A=0.051
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.973 A=0.027
Allele Frequency Aggregator Asian Sub 112 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.98 A=0.02
8.3KJPN JAPANESE Study-wide 16760 G=0.99994 A=0.00006
1000Genomes_30x Global Study-wide 6404 G=0.9767 A=0.0233
1000Genomes_30x African Sub 1786 G=0.9955 A=0.0045
1000Genomes_30x Europe Sub 1266 G=0.9226 A=0.0774
1000Genomes_30x South Asian Sub 1202 G=0.9884 A=0.0116
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.970 A=0.030
1000Genomes Global Study-wide 5008 G=0.9768 A=0.0232
1000Genomes African Sub 1322 G=0.9955 A=0.0045
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9225 A=0.0775
1000Genomes South Asian Sub 978 G=0.989 A=0.011
1000Genomes American Sub 694 G=0.970 A=0.030
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8973 A=0.1027
Northern Sweden ACPOP Study-wide 600 G=0.893 A=0.107
SGDP_PRJ Global Study-wide 16 G=0.50 A=0.50
Siberian Global Study-wide 6 G=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 17 NC_000017.11:g.43720826G>A
GRCh37.p13 chr 17 NC_000017.10:g.41798194G>A
SOST RefSeqGene (LRG_852) NG_008078.2:g.42963C>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 G= A
GRCh38.p14 chr 17 NC_000017.11:g.43720826= NC_000017.11:g.43720826G>A
GRCh37.p13 chr 17 NC_000017.10:g.41798194= NC_000017.10:g.41798194G>A
SOST RefSeqGene (LRG_852) NG_008078.2:g.42963= NG_008078.2:g.42963C>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#.

28 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss464925214 Sep 17, 2011 (135)
2 EVA-GONL ss993115588 Aug 21, 2014 (142)
3 1000GENOMES ss1358688266 Aug 21, 2014 (142)
4 EVA_DECODE ss1697158857 Apr 01, 2015 (144)
5 JJLAB ss2029064952 Sep 14, 2016 (149)
6 USC_VALOUEV ss2157536010 Dec 20, 2016 (150)
7 HUMAN_LONGEVITY ss2216908267 Dec 20, 2016 (150)
8 GNOMAD ss2949966937 Nov 08, 2017 (151)
9 SWEGEN ss3015548349 Nov 08, 2017 (151)
10 CSHL ss3351750062 Nov 08, 2017 (151)
11 EGCUT_WGS ss3682434682 Jul 13, 2019 (153)
12 EVA_DECODE ss3700482523 Jul 13, 2019 (153)
13 ACPOP ss3742032511 Jul 13, 2019 (153)
14 EVA ss3754676636 Jul 13, 2019 (153)
15 KHV_HUMAN_GENOMES ss3819945808 Jul 13, 2019 (153)
16 EVA ss3834871445 Apr 27, 2020 (154)
17 SGDP_PRJ ss3885765971 Apr 27, 2020 (154)
18 TOPMED ss5036276168 Apr 26, 2021 (155)
19 TOMMO_GENOMICS ss5222455351 Apr 26, 2021 (155)
20 1000G_HIGH_COVERAGE ss5303162920 Oct 17, 2022 (156)
21 EVA ss5427648607 Oct 17, 2022 (156)
22 HUGCELL_USP ss5496215466 Oct 17, 2022 (156)
23 EVA ss5511768398 Oct 17, 2022 (156)
24 1000G_HIGH_COVERAGE ss5606897180 Oct 17, 2022 (156)
25 SANFORD_IMAGENETICS ss5660119778 Oct 17, 2022 (156)
26 EVA ss5833994901 Oct 17, 2022 (156)
27 EVA ss5913991360 Oct 17, 2022 (156)
28 EVA ss5951512929 Oct 17, 2022 (156)
29 1000Genomes NC_000017.10 - 41798194 Oct 12, 2018 (152)
30 1000Genomes_30x NC_000017.11 - 43720826 Oct 17, 2022 (156)
31 Genetic variation in the Estonian population NC_000017.10 - 41798194 Oct 12, 2018 (152)
32 gnomAD - Genomes NC_000017.11 - 43720826 Apr 26, 2021 (155)
33 Northern Sweden NC_000017.10 - 41798194 Jul 13, 2019 (153)
34 SGDP_PRJ NC_000017.10 - 41798194 Apr 27, 2020 (154)
35 Siberian NC_000017.10 - 41798194 Apr 27, 2020 (154)
36 8.3KJPN NC_000017.10 - 41798194 Apr 26, 2021 (155)
37 TopMed NC_000017.11 - 43720826 Apr 26, 2021 (155)
38 ALFA NC_000017.11 - 43720826 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
ss1697158857 NC_000017.9:39153719:G:A NC_000017.11:43720825:G:A (self)
71931218, 28172930, 15317376, 37782951, 10052364, 80424658, ss464925214, ss993115588, ss1358688266, ss2029064952, ss2157536010, ss2949966937, ss3015548349, ss3351750062, ss3682434682, ss3742032511, ss3754676636, ss3834871445, ss3885765971, ss5222455351, ss5427648607, ss5511768398, ss5660119778, ss5833994901, ss5951512929 NC_000017.10:41798193:G:A NC_000017.11:43720825:G:A (self)
94423115, 507493182, 251821830, 9154523580, ss2216908267, ss3700482523, ss3819945808, ss5036276168, ss5303162920, ss5496215466, ss5606897180, ss5913991360 NC_000017.11:43720825:G:A NC_000017.11:43720825:G: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 rs188810925

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.post820+afb47a3d