Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs5772037

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1118448-1118450 (GRCh38.p13) 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
dupG
Variation Type
Indel Insertion and Deletion
Frequency
dupG=0.112109 (29674/264690, TOPMED)
dupG=0.101235 (14198/140248, GnomAD)
dupG=0.10410 (1928/18520, ALFA) (+ 10 more)
dupG=0.20476 (3431/16756, 8.3KJPN)
dupG=0.1394 (698/5008, 1000G)
dupG=0.0835 (374/4480, Estonian)
dupG=0.1017 (392/3854, ALSPAC)
dupG=0.1176 (436/3708, TWINSUK)
dupG=0.2260 (414/1832, Korea1K)
dupG=0.106 (106/998, GoNL)
dupG=0.103 (62/600, NorthernSweden)
dupG=0.146 (31/212, Vietnamese)
dupG=0.12 (5/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.1118450dup
GRCh37.p13 chr 1 NC_000001.10:g.1053830dup
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 18520 GGG=0.89590 GGGG=0.10410
European Sub 14152 GGG=0.89436 GGGG=0.10564
African Sub 2898 GGG=0.9217 GGGG=0.0783
African Others Sub 114 GGG=0.939 GGGG=0.061
African American Sub 2784 GGG=0.9210 GGGG=0.0790
Asian Sub 112 GGG=0.830 GGGG=0.170
East Asian Sub 86 GGG=0.86 GGGG=0.14
Other Asian Sub 26 GGG=0.73 GGGG=0.27
Latin American 1 Sub 146 GGG=0.890 GGGG=0.110
Latin American 2 Sub 610 GGG=0.856 GGGG=0.144
South Asian Sub 98 GGG=0.86 GGGG=0.14
Other Sub 504 GGG=0.863 GGGG=0.137


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 -

No frequency provided

dupG=0.112109
gnomAD - Genomes Global Study-wide 140248 -

No frequency provided

dupG=0.101235
gnomAD - Genomes European Sub 75940 -

No frequency provided

dupG=0.10531
gnomAD - Genomes African Sub 42044 -

No frequency provided

dupG=0.06883
gnomAD - Genomes American Sub 13660 -

No frequency provided

dupG=0.13141
gnomAD - Genomes Ashkenazi Jewish Sub 3324 -

No frequency provided

dupG=0.1742
gnomAD - Genomes East Asian Sub 3126 -

No frequency provided

dupG=0.2086
gnomAD - Genomes Other Sub 2154 -

No frequency provided

dupG=0.1305
8.3KJPN JAPANESE Study-wide 16756 -

No frequency provided

dupG=0.20476
1000Genomes Global Study-wide 5008 -

No frequency provided

dupG=0.1394
1000Genomes African Sub 1322 -

No frequency provided

dupG=0.0643
1000Genomes East Asian Sub 1008 -

No frequency provided

dupG=0.2222
1000Genomes Europe Sub 1006 -

No frequency provided

dupG=0.1044
1000Genomes South Asian Sub 978 -

No frequency provided

dupG=0.210
1000Genomes American Sub 694 -

No frequency provided

dupG=0.114
Genetic variation in the Estonian population Estonian Study-wide 4480 -

No frequency provided

dupG=0.0835
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupG=0.1017
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupG=0.1176
Korean Genome Project KOREAN Study-wide 1832 -

No frequency provided

dupG=0.2260
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 -

No frequency provided

dupG=0.106
Northern Sweden ACPOP Study-wide 600 -

No frequency provided

dupG=0.103
A Vietnamese Genetic Variation Database Global Study-wide 212 -

No frequency provided

dupG=0.146
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupG=0.12
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 GGG= dupG
GRCh38.p13 chr 1 NC_000001.11:g.1118448_1118450= NC_000001.11:g.1118450dup
GRCh37.p13 chr 1 NC_000001.10:g.1053828_1053830= NC_000001.10:g.1053830dup
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#.

37 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41172797 Dec 03, 2013 (138)
2 HUMANGENOME_JCVI ss98565701 Feb 13, 2009 (138)
3 GMI ss154521648 Dec 01, 2009 (138)
4 GMI ss287939677 May 04, 2012 (138)
5 1000GENOMES ss325997189 May 09, 2011 (138)
6 1000GENOMES ss325997338 May 09, 2011 (138)
7 1000GENOMES ss325997773 May 09, 2011 (138)
8 1000GENOMES ss498763995 May 04, 2012 (138)
9 LUNTER ss550899286 Apr 25, 2013 (138)
10 LUNTER ss550903265 Apr 25, 2013 (138)
11 LUNTER ss552739252 Apr 25, 2013 (138)
12 TISHKOFF ss553747693 Apr 25, 2013 (138)
13 SSMP ss663106434 Apr 01, 2015 (144)
14 EVA-GONL ss974772000 Aug 21, 2014 (142)
15 1000GENOMES ss1367645844 Aug 21, 2014 (142)
16 DDI ss1536213987 Apr 01, 2015 (144)
17 EVA_GENOME_DK ss1573868723 Apr 01, 2015 (144)
18 EVA_DECODE ss1584131933 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1700146424 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1700154983 Apr 01, 2015 (144)
21 JJLAB ss2030297888 Sep 14, 2016 (149)
22 TOPMED ss2321525527 Dec 20, 2016 (150)
23 SYSTEMSBIOZJU ss2624265531 Nov 08, 2017 (151)
24 GNOMAD ss2750671927 Nov 08, 2017 (151)
25 SWEGEN ss2986154388 Nov 08, 2017 (151)
26 MCHAISSO ss3064386218 Nov 08, 2017 (151)
27 TOPMED ss3066472364 Nov 08, 2017 (151)
28 BIOINF_KMB_FNS_UNIBA ss3645022513 Oct 11, 2018 (152)
29 URBANLAB ss3646581926 Oct 11, 2018 (152)
30 EGCUT_WGS ss3654265453 Jul 12, 2019 (153)
31 EVA_DECODE ss3685997977 Jul 12, 2019 (153)
32 ACPOP ss3726718692 Jul 12, 2019 (153)
33 KHV_HUMAN_GENOMES ss3798746896 Jul 12, 2019 (153)
34 EVA ss3825982609 Apr 25, 2020 (154)
35 KOGIC ss3943636308 Apr 25, 2020 (154)
36 TOPMED ss4436520286 Apr 25, 2021 (155)
37 TOMMO_GENOMICS ss5142066948 Apr 25, 2021 (155)
38 1000Genomes NC_000001.10 - 1053828 Oct 11, 2018 (152)
39 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1053828 Oct 11, 2018 (152)
40 Genetic variation in the Estonian population NC_000001.10 - 1053828 Oct 11, 2018 (152)
41 The Danish reference pan genome NC_000001.10 - 1053828 Apr 25, 2020 (154)
42 gnomAD - Genomes NC_000001.11 - 1118448 Apr 25, 2021 (155)
43 Genome of the Netherlands Release 5 NC_000001.10 - 1053828 Apr 25, 2020 (154)
44 Korean Genome Project NC_000001.11 - 1118448 Apr 25, 2020 (154)
45 Northern Sweden NC_000001.10 - 1053828 Jul 12, 2019 (153)
46 8.3KJPN NC_000001.10 - 1053828 Apr 25, 2021 (155)
47 TopMed NC_000001.11 - 1118448 Apr 25, 2021 (155)
48 UK 10K study - Twins NC_000001.10 - 1053828 Oct 11, 2018 (152)
49 A Vietnamese Genetic Variation Database NC_000001.10 - 1053828 Jul 12, 2019 (153)
50 ALFA NC_000001.11 - 1118448 Apr 25, 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)
rs71576601 May 15, 2013 (138)
rs144498178 Sep 17, 2011 (135)
rs375309203 May 15, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss287939677, ss325997189, ss325997338, ss325997773, ss550899286, ss550903265, ss552739252, ss1584131933 NC_000001.9:1043690::G NC_000001.11:1118447:GGG:GGGG (self)
15441, 4952, 3701, 120352, 2324, 3557, 36255, 4952, 1107, ss498763995, ss663106434, ss974772000, ss1367645844, ss1536213987, ss1573868723, ss1700146424, ss1700154983, ss2030297888, ss2321525527, ss2624265531, ss2750671927, ss2986154388, ss3654265453, ss3726718692, ss3825982609, ss5142066948 NC_000001.10:1053827::G NC_000001.11:1118447:GGG:GGGG (self)
ss553747693 NC_000001.10:1053830::G NC_000001.11:1118447:GGG:GGGG (self)
141943, 14309, 71557, 126621, ss3064386218, ss3066472364, ss3645022513, ss3646581926, ss3685997977, ss3798746896, ss3943636308, ss4436520286 NC_000001.11:1118447::G NC_000001.11:1118447:GGG:GGGG (self)
3956205343 NC_000001.11:1118447:GGG:GGGG NC_000001.11:1118447:GGG:GGGG (self)
ss98565701, ss154521648 NT_004350.19:532459::G NC_000001.11:1118447:GGG:GGGG (self)
ss41172797 NT_004350.19:532462::G NC_000001.11:1118447:GGG:GGGG (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 rs5772037

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.post596+ae089ad