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dbSNP Short Genetic Variations

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.

rs5689

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr1:71009964 (GRCh38.p12) 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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.01689 (2121/125568, TOPMED)
G=0.0164 (507/30918, GnomAD)
G=0.018 (91/5008, 1000G)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PTGER3 : Intron 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.p12 chr 1 NC_000001.11:g.71009964A>G
GRCh37.p13 chr 1 NC_000001.10:g.71475647A>G
PTGER3 RefSeqGene NG_029509.1:g.42845T>C
Gene: PTGER3, prostaglandin E receptor 3 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PTGER3 transcript variant 11 NM_001126044.1:c. N/A Intron Variant
PTGER3 transcript variant 4 NM_198714.1:c. N/A Intron Variant
PTGER3 transcript variant 6 NM_198716.1:c. N/A Intron Variant
PTGER3 transcript variant 7 NM_198717.1:c. N/A Intron Variant
PTGER3 transcript variant 8 NM_198718.1:c. N/A Intron Variant
PTGER3 transcript variant 9 NM_198719.1:c. N/A Intron Variant
PTGER3 transcript variant 5 NM_198715.2:c. N/A 3 Prime UTR Variant
PTGER3 transcript variant 2 NR_028292.1:n. N/A Intron Variant
PTGER3 transcript variant 3 NR_028293.1:n. N/A Intron Variant
PTGER3 transcript variant 1 NR_028294.1:n. N/A Intron Variant
PTGER3 transcript variant X1 XM_011541810.3:c. N/A Intron Variant
PTGER3 transcript variant X2 XR_946714.2:n. N/A Intron 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
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 125568 A=0.98311 G=0.01689
gnomAD - Genomes Global Study-wide 30918 A=0.9836 G=0.0164
gnomAD - Genomes European Sub 18458 A=0.9999 G=0.0001
gnomAD - Genomes African Sub 8726 A=0.943 G=0.057
gnomAD - Genomes East Asian Sub 1614 A=1.000 G=0.000
gnomAD - Genomes Other Sub 980 A=1.00 G=0.00
gnomAD - Genomes American Sub 838 A=1.00 G=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 302 A=1.00 G=0.00
1000Genomes Global Study-wide 5008 A=0.982 G=0.018
1000Genomes African Sub 1322 A=0.935 G=0.065
1000Genomes East Asian Sub 1008 A=1.000 G=0.000
1000Genomes Europe Sub 1006 A=1.000 G=0.000
1000Genomes South Asian Sub 978 A=1.00 G=0.00
1000Genomes American Sub 694 A=0.99 G=0.01
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 A= G Note
GRCh38.p12 chr 1 NC_000001.11:g.71009964A= NC_000001.11:g.71009964A>G
GRCh37.p13 chr 1 NC_000001.10:g.71475647A= NC_000001.10:g.71475647A>G
PTGER3 RefSeqGene NG_029509.1:g.42845T= NG_029509.1:g.42845T>C
PTGER3 transcript variant 5 NM_198715.2:c.*2251T= NM_198715.2:c.*2251T>C
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#.

23 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 ARAVINDA ss7157 Sep 19, 2000 (52)
2 SC_JCM ss3874166 Sep 28, 2001 (100)
3 SC_SNP ss12996211 Dec 05, 2003 (119)
4 ILLUMINA ss65743283 Oct 15, 2006 (127)
5 BUSHMAN ss198600975 Jul 04, 2010 (132)
6 1000GENOMES ss218446088 Jul 14, 2010 (132)
7 ILLUMINA ss480821355 May 04, 2012 (137)
8 ILLUMINA ss482394112 May 04, 2012 (137)
9 ILLUMINA ss533964951 Sep 08, 2015 (146)
10 TISHKOFF ss554233591 Apr 25, 2013 (138)
11 ILLUMINA ss779232320 Aug 21, 2014 (142)
12 ILLUMINA ss781326631 Aug 21, 2014 (142)
13 ILLUMINA ss834698483 Aug 21, 2014 (142)
14 1000GENOMES ss1291333545 Aug 21, 2014 (142)
15 HAMMER_LAB ss1397249373 Sep 08, 2015 (146)
16 WEILL_CORNELL_DGM ss1918482689 Feb 12, 2016 (147)
17 HUMAN_LONGEVITY ss2163426131 Dec 20, 2016 (150)
18 TOPMED ss2325691791 Dec 20, 2016 (150)
19 ILLUMINA ss2632530371 Nov 08, 2017 (151)
20 GNOMAD ss2756399995 Nov 08, 2017 (151)
21 TOPMED ss3079524542 Nov 08, 2017 (151)
22 ILLUMINA ss3626123459 Oct 11, 2018 (152)
23 ILLUMINA ss3630565797 Oct 11, 2018 (152)
24 1000Genomes NC_000001.10 - 71475647 Oct 11, 2018 (152)
25 gnomAD - Genomes NC_000001.10 - 71475647 Oct 11, 2018 (152)
26 TopMed NC_000001.11 - 71009964 Oct 11, 2018 (152)
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
ss198600975, ss482394112, ss1397249373 NC_000001.9:71248234:A:G NC_000001.11:71009963:A:G (self)
2067841, 5799194, ss218446088, ss480821355, ss533964951, ss554233591, ss779232320, ss781326631, ss834698483, ss1291333545, ss1918482689, ss2325691791, ss2632530371, ss2756399995, ss3626123459, ss3630565797 NC_000001.10:71475646:A:G NC_000001.11:71009963:A:G (self)
10871563, ss2163426131, ss3079524542 NC_000001.11:71009963:A:G NC_000001.11:71009963:A:G (self)
ss12996211 NT_004464.15:1920937:A:G NC_000001.11:71009963:A:G (self)
ss7157, ss3874166, ss65743283 NT_032977.9:41447564:A:G NC_000001.11:71009963:A:G (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 rs5689

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.post104+4a6ee9c