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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.

rs7265718

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:36047519 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.218950 (57954/264690, TOPMED)
G=0.211870 (29608/139746, GnomAD)
G=0.16183 (6231/38504, ALFA) (+ 14 more)
G=0.14700 (4154/28258, 14KJPN)
G=0.14791 (2479/16760, 8.3KJPN)
G=0.2330 (1167/5008, 1000G)
G=0.1393 (537/3854, ALSPAC)
G=0.1362 (505/3708, TWINSUK)
G=0.1812 (531/2930, KOREAN)
G=0.065 (65/998, GoNL)
G=0.118 (71/600, NorthernSweden)
G=0.256 (84/328, HapMap)
T=0.414 (91/220, SGDP_PRJ)
G=0.199 (43/216, Qatari)
G=0.173 (37/214, Vietnamese)
T=0.5 (4/8, Siberian)
G=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NORAD : Non Coding Transcript Variant
Publications
1 citation
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 38504 T=0.83817 G=0.16183
European Sub 31250 T=0.85981 G=0.14019
African Sub 3042 T=0.6266 G=0.3734
African Others Sub 114 T=0.605 G=0.395
African American Sub 2928 T=0.6274 G=0.3726
Asian Sub 142 T=0.761 G=0.239
East Asian Sub 90 T=0.74 G=0.26
Other Asian Sub 52 T=0.79 G=0.21
Latin American 1 Sub 152 T=0.789 G=0.211
Latin American 2 Sub 632 T=0.826 G=0.174
South Asian Sub 98 T=0.79 G=0.21
Other Sub 3188 T=0.8378 G=0.1622


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 T=0.781050 G=0.218950
gnomAD - Genomes Global Study-wide 139746 T=0.788130 G=0.211870
gnomAD - Genomes European Sub 75762 T=0.86208 G=0.13792
gnomAD - Genomes African Sub 41786 T=0.63744 G=0.36256
gnomAD - Genomes American Sub 13616 T=0.82792 G=0.17208
gnomAD - Genomes Ashkenazi Jewish Sub 3316 T=0.8082 G=0.1918
gnomAD - Genomes East Asian Sub 3120 T=0.8048 G=0.1952
gnomAD - Genomes Other Sub 2146 T=0.8038 G=0.1962
Allele Frequency Aggregator Total Global 38504 T=0.83817 G=0.16183
Allele Frequency Aggregator European Sub 31250 T=0.85981 G=0.14019
Allele Frequency Aggregator Other Sub 3188 T=0.8378 G=0.1622
Allele Frequency Aggregator African Sub 3042 T=0.6266 G=0.3734
Allele Frequency Aggregator Latin American 2 Sub 632 T=0.826 G=0.174
Allele Frequency Aggregator Latin American 1 Sub 152 T=0.789 G=0.211
Allele Frequency Aggregator Asian Sub 142 T=0.761 G=0.239
Allele Frequency Aggregator South Asian Sub 98 T=0.79 G=0.21
14KJPN JAPANESE Study-wide 28258 T=0.85300 G=0.14700
8.3KJPN JAPANESE Study-wide 16760 T=0.85209 G=0.14791
1000Genomes Global Study-wide 5008 T=0.7670 G=0.2330
1000Genomes African Sub 1322 T=0.6127 G=0.3873
1000Genomes East Asian Sub 1008 T=0.7956 G=0.2044
1000Genomes Europe Sub 1006 T=0.8698 G=0.1302
1000Genomes South Asian Sub 978 T=0.794 G=0.206
1000Genomes American Sub 694 T=0.831 G=0.169
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8607 G=0.1393
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8638 G=0.1362
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8188 G=0.1812
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.935 G=0.065
Northern Sweden ACPOP Study-wide 600 T=0.882 G=0.118
HapMap Global Study-wide 328 T=0.744 G=0.256
HapMap African Sub 120 T=0.483 G=0.517
HapMap American Sub 120 T=0.908 G=0.092
HapMap Asian Sub 88 T=0.88 G=0.12
SGDP_PRJ Global Study-wide 220 T=0.414 G=0.586
Qatari Global Study-wide 216 T=0.801 G=0.199
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.827 G=0.173
Siberian Global Study-wide 8 T=0.5 G=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 20 NC_000020.11:g.36047519T>G
GRCh37.p13 chr 20 NC_000020.10:g.34635441T>G
Gene: NORAD, non-coding RNA activated by DNA damage (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NORAD transcript NR_027451.1:n.3442A>C N/A Non Coding 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
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 T= G
GRCh38.p14 chr 20 NC_000020.11:g.36047519= NC_000020.11:g.36047519T>G
GRCh37.p13 chr 20 NC_000020.10:g.34635441= NC_000020.10:g.34635441T>G
NORAD transcript NR_027451.1:n.3442= NR_027451.1:n.3442A>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#.

89 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10955150 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss16890343 Feb 27, 2004 (120)
3 SSAHASNP ss21775498 Apr 05, 2004 (121)
4 ILLUMINA ss75281335 Dec 07, 2007 (129)
5 HGSV ss81036158 Dec 16, 2007 (130)
6 HUMANGENOME_JCVI ss96226921 Feb 06, 2009 (130)
7 1000GENOMES ss113297361 Jan 25, 2009 (130)
8 ILLUMINA-UK ss117535810 Feb 14, 2009 (130)
9 KRIBB_YJKIM ss119549934 Dec 01, 2009 (131)
10 ILLUMINA ss123113407 Dec 01, 2009 (131)
11 ENSEMBL ss135722331 Dec 01, 2009 (131)
12 ILLUMINA ss154416752 Dec 01, 2009 (131)
13 ILLUMINA ss160867170 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss169529684 Jul 04, 2010 (132)
15 ILLUMINA ss172272517 Jul 04, 2010 (132)
16 ILLUMINA ss174315437 Jul 04, 2010 (132)
17 BUSHMAN ss203880119 Jul 04, 2010 (132)
18 1000GENOMES ss228338291 Jul 14, 2010 (132)
19 1000GENOMES ss237822175 Jul 15, 2010 (132)
20 1000GENOMES ss243995144 Jul 15, 2010 (132)
21 GMI ss283371506 May 04, 2012 (137)
22 ILLUMINA ss410948133 Sep 17, 2011 (135)
23 ILLUMINA ss482530777 Sep 08, 2015 (146)
24 EXOME_CHIP ss491560326 May 04, 2012 (137)
25 TISHKOFF ss566230804 Apr 25, 2013 (138)
26 SSMP ss662113073 Apr 25, 2013 (138)
27 ILLUMINA ss780686434 Sep 08, 2015 (146)
28 ILLUMINA ss783359957 Sep 08, 2015 (146)
29 ILLUMINA ss825645516 Apr 01, 2015 (144)
30 EVA-GONL ss994695132 Aug 21, 2014 (142)
31 1000GENOMES ss1364671232 Aug 21, 2014 (142)
32 DDI ss1429047851 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1638725741 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1681719774 Apr 01, 2015 (144)
35 EVA_DECODE ss1698753974 Apr 01, 2015 (144)
36 EVA_SVP ss1713691748 Apr 01, 2015 (144)
37 ILLUMINA ss1752384349 Sep 08, 2015 (146)
38 HAMMER_LAB ss1809490332 Sep 08, 2015 (146)
39 ILLUMINA ss1917946740 Feb 12, 2016 (147)
40 WEILL_CORNELL_DGM ss1938208736 Feb 12, 2016 (147)
41 ILLUMINA ss1946551314 Feb 12, 2016 (147)
42 ILLUMINA ss1959913130 Feb 12, 2016 (147)
43 GENOMED ss1969127865 Jul 19, 2016 (147)
44 JJLAB ss2029886016 Sep 14, 2016 (149)
45 USC_VALOUEV ss2158450835 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2629436280 Nov 08, 2017 (151)
47 GRF ss2704141529 Nov 08, 2017 (151)
48 GNOMAD ss2967142464 Nov 08, 2017 (151)
49 AFFY ss2985214272 Nov 08, 2017 (151)
50 AFFY ss2985833565 Nov 08, 2017 (151)
51 SWEGEN ss3018145796 Nov 08, 2017 (151)
52 ILLUMINA ss3022116803 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3028775913 Nov 08, 2017 (151)
54 CSHL ss3352501257 Nov 08, 2017 (151)
55 ILLUMINA ss3634834285 Oct 12, 2018 (152)
56 ILLUMINA ss3636527978 Oct 12, 2018 (152)
57 ILLUMINA ss3638344033 Oct 12, 2018 (152)
58 ILLUMINA ss3640541583 Oct 12, 2018 (152)
59 ILLUMINA ss3643306936 Oct 12, 2018 (152)
60 ILLUMINA ss3644781700 Oct 12, 2018 (152)
61 OMUKHERJEE_ADBS ss3646549422 Oct 12, 2018 (152)
62 URBANLAB ss3651016154 Oct 12, 2018 (152)
63 ILLUMINA ss3652571871 Oct 12, 2018 (152)
64 ILLUMINA ss3653983082 Oct 12, 2018 (152)
65 EVA_DECODE ss3706897772 Jul 13, 2019 (153)
66 ACPOP ss3743373490 Jul 13, 2019 (153)
67 ILLUMINA ss3744493248 Jul 13, 2019 (153)
68 ILLUMINA ss3745134182 Jul 13, 2019 (153)
69 EVA ss3758610626 Jul 13, 2019 (153)
70 ILLUMINA ss3772630382 Jul 13, 2019 (153)
71 PACBIO ss3788641890 Jul 13, 2019 (153)
72 PACBIO ss3793534798 Jul 13, 2019 (153)
73 PACBIO ss3798421708 Jul 13, 2019 (153)
74 KHV_HUMAN_GENOMES ss3821778078 Jul 13, 2019 (153)
75 EVA ss3835660678 Apr 27, 2020 (154)
76 SGDP_PRJ ss3889051631 Apr 27, 2020 (154)
77 KRGDB ss3939330934 Apr 27, 2020 (154)
78 TOPMED ss5087741497 Apr 27, 2021 (155)
79 TOMMO_GENOMICS ss5229535766 Apr 27, 2021 (155)
80 1000G_HIGH_COVERAGE ss5308712526 Oct 16, 2022 (156)
81 EVA ss5437242091 Oct 16, 2022 (156)
82 EVA ss5512210520 Oct 16, 2022 (156)
83 SANFORD_IMAGENETICS ss5663166529 Oct 16, 2022 (156)
84 TOMMO_GENOMICS ss5789302171 Oct 16, 2022 (156)
85 YY_MCH ss5818025372 Oct 16, 2022 (156)
86 EVA ss5845661115 Oct 16, 2022 (156)
87 EVA ss5853130908 Oct 16, 2022 (156)
88 EVA ss5923324763 Oct 16, 2022 (156)
89 EVA ss5958077642 Oct 16, 2022 (156)
90 1000Genomes NC_000020.10 - 34635441 Oct 12, 2018 (152)
91 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 34635441 Oct 12, 2018 (152)
92 gnomAD - Genomes NC_000020.11 - 36047519 Apr 27, 2021 (155)
93 Genome of the Netherlands Release 5 NC_000020.10 - 34635441 Apr 27, 2020 (154)
94 HapMap NC_000020.11 - 36047519 Apr 27, 2020 (154)
95 KOREAN population from KRGDB NC_000020.10 - 34635441 Apr 27, 2020 (154)
96 Northern Sweden NC_000020.10 - 34635441 Jul 13, 2019 (153)
97 Qatari NC_000020.10 - 34635441 Apr 27, 2020 (154)
98 SGDP_PRJ NC_000020.10 - 34635441 Apr 27, 2020 (154)
99 Siberian NC_000020.10 - 34635441 Apr 27, 2020 (154)
100 8.3KJPN NC_000020.10 - 34635441 Apr 27, 2021 (155)
101 14KJPN NC_000020.11 - 36047519 Oct 16, 2022 (156)
102 TopMed NC_000020.11 - 36047519 Apr 27, 2021 (155)
103 UK 10K study - Twins NC_000020.10 - 34635441 Oct 12, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000020.10 - 34635441 Jul 13, 2019 (153)
105 ALFA NC_000020.11 - 36047519 Apr 27, 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)
rs61583689 May 27, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81036158, ss113297361, ss117535810, ss169529684, ss203880119, ss283371506, ss825645516, ss1698753974, ss1713691748, ss3643306936 NC_000020.9:34098854:T:G NC_000020.11:36047518:T:G (self)
78131265, 43248336, 19268900, 46508328, 16658355, 20250658, 41068611, 10967189, 87505073, 43248336, 9544194, ss228338291, ss237822175, ss243995144, ss482530777, ss491560326, ss566230804, ss662113073, ss780686434, ss783359957, ss994695132, ss1364671232, ss1429047851, ss1638725741, ss1681719774, ss1752384349, ss1809490332, ss1917946740, ss1938208736, ss1946551314, ss1959913130, ss1969127865, ss2029886016, ss2158450835, ss2629436280, ss2704141529, ss2967142464, ss2985214272, ss2985833565, ss3018145796, ss3022116803, ss3352501257, ss3634834285, ss3636527978, ss3638344033, ss3640541583, ss3644781700, ss3646549422, ss3652571871, ss3653983082, ss3743373490, ss3744493248, ss3745134182, ss3758610626, ss3772630382, ss3788641890, ss3793534798, ss3798421708, ss3835660678, ss3889051631, ss3939330934, ss5229535766, ss5437242091, ss5512210520, ss5663166529, ss5845661115, ss5958077642 NC_000020.10:34635440:T:G NC_000020.11:36047518:T:G (self)
551144630, 2113235, 123139275, 362850442, 774591729, ss3028775913, ss3651016154, ss3706897772, ss3821778078, ss5087741497, ss5308712526, ss5789302171, ss5818025372, ss5853130908, ss5923324763 NC_000020.11:36047518:T:G NC_000020.11:36047518:T:G (self)
ss75281335, ss96226921, ss119549934, ss123113407, ss135722331, ss154416752, ss160867170, ss172272517, ss174315437, ss410948133 NT_011362.10:4831532:T:G NC_000020.11:36047518:T:G (self)
ss10955150, ss16890343, ss21775498 NT_028392.4:4801961:T:G NC_000020.11:36047518:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs7265718
PMID Title Author Year Journal
26905813 Gender-specific associations of genetic variants with metabolic syndrome components in the Tunisian population. Elouej S et al. 2016 Endocrine research
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