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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.

rs73734533

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:155462942 (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=0.009755 (2582/264690, TOPMED)
A=0.008605 (1200/139458, GnomAD)
A=0.01890 (534/28258, 14KJPN) (+ 8 more)
A=0.00478 (93/19450, ALFA)
A=0.01904 (319/16758, 8.3KJPN)
A=0.0120 (77/6404, 1000G_30x)
A=0.0124 (62/5008, 1000G)
A=0.0246 (72/2922, KOREAN)
A=0.009 (2/216, Qatari)
G=0.5 (3/6, SGDP_PRJ)
A=0.5 (3/6, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EN2 : 3 Prime UTR Variant
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 19450 G=0.99522 A=0.00478
European Sub 14450 G=0.99979 A=0.00021
African Sub 3000 G=0.9727 A=0.0273
African Others Sub 114 G=0.974 A=0.026
African American Sub 2886 G=0.9726 A=0.0274
Asian Sub 118 G=1.000 A=0.000
East Asian Sub 90 G=1.00 A=0.00
Other Asian Sub 28 G=1.00 A=0.00
Latin American 1 Sub 158 G=1.000 A=0.000
Latin American 2 Sub 632 G=0.995 A=0.005
South Asian Sub 98 G=1.00 A=0.00
Other Sub 994 G=0.995 A=0.005


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=0.990245 A=0.009755
gnomAD - Genomes Global Study-wide 139458 G=0.991395 A=0.008605
gnomAD - Genomes European Sub 75502 G=0.99985 A=0.00015
gnomAD - Genomes African Sub 41764 G=0.97376 A=0.02624
gnomAD - Genomes American Sub 13600 G=0.99537 A=0.00463
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.9982 A=0.0018
gnomAD - Genomes East Asian Sub 3128 G=0.9965 A=0.0035
gnomAD - Genomes Other Sub 2146 G=0.9939 A=0.0061
14KJPN JAPANESE Study-wide 28258 G=0.98110 A=0.01890
Allele Frequency Aggregator Total Global 19450 G=0.99522 A=0.00478
Allele Frequency Aggregator European Sub 14450 G=0.99979 A=0.00021
Allele Frequency Aggregator African Sub 3000 G=0.9727 A=0.0273
Allele Frequency Aggregator Other Sub 994 G=0.995 A=0.005
Allele Frequency Aggregator Latin American 2 Sub 632 G=0.995 A=0.005
Allele Frequency Aggregator Latin American 1 Sub 158 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 118 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 A=0.00
8.3KJPN JAPANESE Study-wide 16758 G=0.98096 A=0.01904
1000Genomes_30x Global Study-wide 6404 G=0.9880 A=0.0120
1000Genomes_30x African Sub 1786 G=0.9664 A=0.0336
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=0.9897 A=0.0103
1000Genomes_30x American Sub 980 G=0.995 A=0.005
1000Genomes Global Study-wide 5008 G=0.9876 A=0.0124
1000Genomes African Sub 1322 G=0.9652 A=0.0348
1000Genomes East Asian Sub 1008 G=0.9881 A=0.0119
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.994 A=0.006
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9754 A=0.0246
Qatari Global Study-wide 216 G=0.991 A=0.009
SGDP_PRJ 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 7 NC_000007.14:g.155462942G>A
GRCh37.p13 chr 7 NC_000007.13:g.155255637G>A
EN2 RefSeqGene NG_007124.1:g.11223G>A
Gene: EN2, engrailed homeobox 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EN2 transcript NM_001427.4:c.*255= N/A 3 Prime UTR 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

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 7 NC_000007.14:g.155462942= NC_000007.14:g.155462942G>A
GRCh37.p13 chr 7 NC_000007.13:g.155255637= NC_000007.13:g.155255637G>A
EN2 RefSeqGene NG_007124.1:g.11223= NG_007124.1:g.11223G>A
EN2 transcript NM_001427.4:c.*255= NM_001427.4:c.*255G>A
EN2 transcript NM_001427.3:c.*255= NM_001427.3:c.*255G>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#.

35 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA-UK ss116405016 Feb 14, 2009 (130)
2 1000GENOMES ss212144972 Jul 14, 2010 (132)
3 1000GENOMES ss223435166 Jul 14, 2010 (132)
4 GMI ss279606523 May 04, 2012 (137)
5 ILLUMINA ss480292093 May 04, 2012 (137)
6 ILLUMINA ss485386311 May 04, 2012 (137)
7 ILLUMINA ss533656925 Sep 08, 2015 (146)
8 ILLUMINA ss781194749 Sep 08, 2015 (146)
9 1000GENOMES ss1327882985 Aug 21, 2014 (142)
10 WEILL_CORNELL_DGM ss1928264401 Feb 12, 2016 (147)
11 HUMAN_LONGEVITY ss2299321426 Dec 20, 2016 (150)
12 ILLUMINA ss2634684183 Nov 08, 2017 (151)
13 GNOMAD ss2861242935 Nov 08, 2017 (151)
14 ILLUMINA ss3022799921 Nov 08, 2017 (151)
15 ILLUMINA ss3629956226 Oct 12, 2018 (152)
16 ILLUMINA ss3642600768 Oct 12, 2018 (152)
17 ILLUMINA ss3653336337 Oct 12, 2018 (152)
18 ILLUMINA ss3726498731 Jul 13, 2019 (153)
19 EVA ss3767388927 Jul 13, 2019 (153)
20 KHV_HUMAN_GENOMES ss3810559603 Jul 13, 2019 (153)
21 SGDP_PRJ ss3868809361 Apr 26, 2020 (154)
22 KRGDB ss3916211246 Apr 26, 2020 (154)
23 TOPMED ss4770118236 Apr 26, 2021 (155)
24 TOMMO_GENOMICS ss5186453780 Apr 26, 2021 (155)
25 1000G_HIGH_COVERAGE ss5275418964 Oct 13, 2022 (156)
26 EVA ss5315293197 Oct 13, 2022 (156)
27 EVA ss5377993129 Oct 13, 2022 (156)
28 HUGCELL_USP ss5472208532 Oct 13, 2022 (156)
29 1000G_HIGH_COVERAGE ss5564904039 Oct 13, 2022 (156)
30 SANFORD_IMAGENETICS ss5644376877 Oct 13, 2022 (156)
31 TOMMO_GENOMICS ss5727724718 Oct 13, 2022 (156)
32 YY_MCH ss5809267652 Oct 13, 2022 (156)
33 EVA ss5823789403 Oct 13, 2022 (156)
34 EVA ss5861626549 Oct 13, 2022 (156)
35 EVA ss5973573838 Oct 13, 2022 (156)
36 1000Genomes NC_000007.13 - 155255637 Oct 12, 2018 (152)
37 1000Genomes_30x NC_000007.14 - 155462942 Oct 13, 2022 (156)
38 gnomAD - Genomes NC_000007.14 - 155462942 Apr 26, 2021 (155)
39 KOREAN population from KRGDB NC_000007.13 - 155255637 Apr 26, 2020 (154)
40 Qatari NC_000007.13 - 155255637 Apr 26, 2020 (154)
41 SGDP_PRJ NC_000007.13 - 155255637 Apr 26, 2020 (154)
42 8.3KJPN NC_000007.13 - 155255637 Apr 26, 2021 (155)
43 14KJPN NC_000007.14 - 155462942 Oct 13, 2022 (156)
44 TopMed NC_000007.14 - 155462942 Apr 26, 2021 (155)
45 ALFA NC_000007.14 - 155462942 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
ss116405016, ss212144972, ss279606523, ss485386311 NC_000007.12:154948397:G:A NC_000007.14:155462941:G:A (self)
39954191, 23388640, 10306331, 20826341, 44423087, ss223435166, ss480292093, ss533656925, ss781194749, ss1327882985, ss1928264401, ss2634684183, ss2861242935, ss3022799921, ss3629956226, ss3642600768, ss3653336337, ss3767388927, ss3868809361, ss3916211246, ss5186453780, ss5315293197, ss5377993129, ss5644376877, ss5823789403, ss5973573838 NC_000007.13:155255636:G:A NC_000007.14:155462941:G:A (self)
52429974, 282071508, 61561822, 607495795, 11768445155, ss2299321426, ss3726498731, ss3810559603, ss4770118236, ss5275418964, ss5472208532, ss5564904039, ss5727724718, ss5809267652, ss5861626549 NC_000007.14:155462941:G:A NC_000007.14:155462941: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 rs73734533

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