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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.

rs80011619

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:63671 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.193490 (20929/108166, GnomAD)
A=0.10862 (1792/16498, 8.3KJPN)
A=0.17985 (2911/16186, ALFA) (+ 8 more)
A=0.1875 (939/5008, 1000G)
A=0.0916 (263/2870, KOREAN)
A=0.0748 (135/1804, Korea1K)
A=0.124 (124/998, GoNL)
A=0.142 (82/576, NorthernSweden)
A=0.015 (8/534, MGP)
A=0.150 (31/206, Qatari)
G=0.434 (59/136, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OR4F5 : 2KB Upstream Variant
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.63671G>A
GRCh37.p13 chr 1 NC_000001.10:g.63671G>A
OR4G11P pseudogene NG_004423.3:g.756G>A
Gene: OR4F5, olfactory receptor family 4 subfamily F member 5 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
OR4F5 transcript NM_001005484.2:c. N/A Upstream Transcript Variant
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 16186 G=0.82015 A=0.17985
European Sub 11936 G=0.85883 A=0.14117
African Sub 2816 G=0.6566 A=0.3434
African Others Sub 108 G=0.620 A=0.380
African American Sub 2708 G=0.6581 A=0.3419
Asian Sub 108 G=0.954 A=0.046
East Asian Sub 84 G=0.96 A=0.04
Other Asian Sub 24 G=0.92 A=0.08
Latin American 1 Sub 146 G=0.836 A=0.164
Latin American 2 Sub 610 G=0.816 A=0.184
South Asian Sub 94 G=0.83 A=0.17
Other Sub 476 G=0.786 A=0.214


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
gnomAD - Genomes Global Study-wide 108166 G=0.806510 A=0.193490
gnomAD - Genomes European Sub 57954 G=0.86884 A=0.13116
gnomAD - Genomes African Sub 32854 G=0.68089 A=0.31911
gnomAD - Genomes American Sub 10310 G=0.80310 A=0.19690
gnomAD - Genomes East Asian Sub 2948 G=0.9647 A=0.0353
gnomAD - Genomes Ashkenazi Jewish Sub 2462 G=0.8473 A=0.1527
gnomAD - Genomes Other Sub 1638 G=0.7961 A=0.2039
8.3KJPN JAPANESE Study-wide 16498 G=0.89138 A=0.10862
1000Genomes Global Study-wide 5008 G=0.8125 A=0.1875
1000Genomes African Sub 1322 G=0.6346 A=0.3654
1000Genomes East Asian Sub 1008 G=0.9623 A=0.0377
1000Genomes Europe Sub 1006 G=0.8956 A=0.1044
1000Genomes South Asian Sub 978 G=0.810 A=0.190
1000Genomes American Sub 694 G=0.817 A=0.183
KOREAN population from KRGDB KOREAN Study-wide 2870 G=0.9084 A=0.0916
Korean Genome Project KOREAN Study-wide 1804 G=0.9252 A=0.0748
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.876 A=0.124
Northern Sweden ACPOP Study-wide 576 G=0.858 A=0.142
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.985 A=0.015
Qatari Global Study-wide 206 G=0.850 A=0.150
SGDP_PRJ Global Study-wide 136 G=0.434 A=0.566
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.p13 chr 1 NC_000001.11:g.63671= NC_000001.11:g.63671G>A
GRCh37.p13 chr 1 NC_000001.10:g.63671= NC_000001.10:g.63671G>A
OR4G11P pseudogene NG_004423.3:g.756= NG_004423.3:g.756G>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#.

26 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 ENSEMBL ss161259357 Dec 01, 2009 (131)
2 COMPLETE_GENOMICS ss162980559 Jul 04, 2010 (132)
3 1000GENOMES ss218190323 Jul 14, 2010 (142)
4 1000GENOMES ss230395380 Jul 14, 2010 (142)
5 1000GENOMES ss238114929 Jul 15, 2010 (142)
6 GMI ss275679923 May 04, 2012 (142)
7 CLINSEQ_SNP ss491581598 May 04, 2012 (142)
8 SSMP ss647514839 Apr 25, 2013 (142)
9 EVA-GONL ss974768770 Aug 21, 2014 (142)
10 1000GENOMES ss1289335788 Aug 21, 2014 (142)
11 DDI ss1425684559 Apr 01, 2015 (144)
12 EVA_MGP ss1710883272 Apr 01, 2015 (144)
13 WEILL_CORNELL_DGM ss1917958281 Feb 12, 2016 (147)
14 JJLAB ss2019497547 Sep 14, 2016 (149)
15 GRF ss2697373018 Nov 08, 2017 (151)
16 GNOMAD ss2750604463 Nov 08, 2017 (151)
17 SWEGEN ss2986142047 Nov 08, 2017 (151)
18 TOPMED ss3066322476 Nov 08, 2017 (151)
19 CSHL ss3343271565 Nov 08, 2017 (151)
20 ACPOP ss3726715210 Jul 12, 2019 (153)
21 EVA ss3745720535 Jul 12, 2019 (153)
22 KHV_HUMAN_GENOMES ss3798742486 Jul 12, 2019 (153)
23 SGDP_PRJ ss3847984127 Apr 25, 2020 (154)
24 KRGDB ss3892823949 Apr 25, 2020 (154)
25 KOGIC ss3943622688 Apr 25, 2020 (154)
26 TOMMO_GENOMICS ss5142033019 Apr 25, 2021 (155)
27 1000Genomes NC_000001.10 - 63671 Oct 11, 2018 (152)
28 gnomAD - Genomes NC_000001.11 - 63671 Apr 25, 2021 (155)
29 Genome of the Netherlands Release 5 NC_000001.10 - 63671 Apr 25, 2020 (154)
30 KOREAN population from KRGDB NC_000001.10 - 63671 Apr 25, 2020 (154)
31 Korean Genome Project NC_000001.11 - 63671 Apr 25, 2020 (154)
32 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 63671 Apr 25, 2020 (154)
33 Northern Sweden NC_000001.10 - 63671 Jul 12, 2019 (153)
34 Qatari NC_000001.10 - 63671 Apr 25, 2020 (154)
35 SGDP_PRJ NC_000001.10 - 63671 Apr 25, 2020 (154)
36 8.3KJPN NC_000001.10 - 63671 Apr 25, 2021 (155)
37 ALFA NC_000001.11 - 63671 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)
rs116440577 Aug 21, 2014 (142)
rs118033436 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss162980559, ss275679923, ss491581598 NC_000001.9:53533:G:A NC_000001.11:63670:G:A (self)
367, 22, 1343, 24, 75, 211, 1107, 2326, ss218190323, ss230395380, ss238114929, ss647514839, ss974768770, ss1289335788, ss1425684559, ss1710883272, ss1917958281, ss2019497547, ss2697373018, ss2750604463, ss2986142047, ss3343271565, ss3726715210, ss3745720535, ss3847984127, ss3892823949, ss5142033019 NC_000001.10:63670:G:A NC_000001.11:63670:G:A (self)
5438, 689, 7159559462, ss3066322476, ss3798742486, ss3943622688 NC_000001.11:63670:G:A NC_000001.11:63670:G:A (self)
ss161259357 NT_077402.2:53670:G:A NC_000001.11:63670: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 rs80011619

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