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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.

rs181

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:24994001 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.385220 (101964/264690, TOPMED)
G=0.379483 (53139/140030, GnomAD)
G=0.35153 (7352/20914, ALFA) (+ 17 more)
G=0.36848 (6175/16758, 8.3KJPN)
G=0.3852 (1929/5008, 1000G)
G=0.2993 (1341/4480, Estonian)
G=0.3007 (1159/3854, ALSPAC)
G=0.3004 (1114/3708, TWINSUK)
G=0.3498 (1025/2930, KOREAN)
G=0.4354 (816/1874, HapMap)
G=0.3215 (589/1832, Korea1K)
G=0.3168 (358/1130, Daghestan)
G=0.268 (267/998, GoNL)
G=0.385 (241/626, Chileans)
G=0.318 (191/600, NorthernSweden)
A=0.407 (127/312, SGDP_PRJ)
G=0.449 (97/216, Qatari)
G=0.287 (62/216, Vietnamese)
G=0.23 (9/40, GENOME_DK)
A=0.47 (18/38, Siberian)
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 7 NC_000007.14:g.24994001A>G
GRCh38.p13 chr 7 NC_000007.14:g.24994001A>T
GRCh37.p13 chr 7 NC_000007.13:g.25033620A>G
GRCh37.p13 chr 7 NC_000007.13:g.25033620A>T
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 20914 A=0.64847 G=0.35153, T=0.00000
European Sub 14026 A=0.70997 G=0.29003, T=0.00000
African Sub 5162 A=0.4851 G=0.5149, T=0.0000
African Others Sub 182 A=0.495 G=0.505, T=0.000
African American Sub 4980 A=0.4847 G=0.5153, T=0.0000
Asian Sub 114 A=0.728 G=0.272, T=0.000
East Asian Sub 88 A=0.73 G=0.27, T=0.00
Other Asian Sub 26 A=0.73 G=0.27, T=0.00
Latin American 1 Sub 146 A=0.623 G=0.377, T=0.000
Latin American 2 Sub 610 A=0.648 G=0.352, T=0.000
South Asian Sub 100 A=0.67 G=0.33, T=0.00
Other Sub 756 A=0.614 G=0.386, T=0.000


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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 A=0.614780 G=0.385220
gnomAD - Genomes Global Study-wide 140030 A=0.620517 G=0.379483
gnomAD - Genomes European Sub 75856 A=0.69236 G=0.30764
gnomAD - Genomes African Sub 41932 A=0.47255 G=0.52745
gnomAD - Genomes American Sub 13646 A=0.64649 G=0.35351
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.6301 G=0.3699
gnomAD - Genomes East Asian Sub 3126 A=0.7406 G=0.2594
gnomAD - Genomes Other Sub 2150 A=0.6172 G=0.3828
8.3KJPN JAPANESE Study-wide 16758 A=0.63152 G=0.36848
1000Genomes Global Study-wide 5008 A=0.6148 G=0.3852
1000Genomes African Sub 1322 A=0.4380 G=0.5620
1000Genomes East Asian Sub 1008 A=0.6994 G=0.3006
1000Genomes Europe Sub 1006 A=0.6998 G=0.3002
1000Genomes South Asian Sub 978 A=0.653 G=0.347
1000Genomes American Sub 694 A=0.651 G=0.349
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.7007 G=0.2993
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6993 G=0.3007
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6996 G=0.3004
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6502 G=0.3498, T=0.0000
HapMap Global Study-wide 1874 A=0.5646 G=0.4354
HapMap American Sub 760 A=0.659 G=0.341
HapMap African Sub 692 A=0.416 G=0.584
HapMap Asian Sub 246 A=0.614 G=0.386
HapMap Europe Sub 176 A=0.670 G=0.330
Korean Genome Project KOREAN Study-wide 1832 A=0.6785 G=0.3215
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.6832 G=0.3168
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.701 G=0.299
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.632 G=0.368
Genome-wide autozygosity in Daghestan Central Asia Sub 120 A=0.642 G=0.358
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.639 G=0.361
Genome-wide autozygosity in Daghestan South Asian Sub 94 A=0.74 G=0.26
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.69 G=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.732 G=0.268
Chileans Chilean Study-wide 626 A=0.615 G=0.385
Northern Sweden ACPOP Study-wide 600 A=0.682 G=0.318
SGDP_PRJ Global Study-wide 312 A=0.407 G=0.593
Qatari Global Study-wide 216 A=0.551 G=0.449
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.713 G=0.287
The Danish reference pan genome Danish Study-wide 40 A=0.78 G=0.23
Siberian Global Study-wide 38 A=0.47 G=0.53
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 T
GRCh38.p13 chr 7 NC_000007.14:g.24994001= NC_000007.14:g.24994001A>G NC_000007.14:g.24994001A>T
GRCh37.p13 chr 7 NC_000007.13:g.25033620= NC_000007.13:g.25033620A>G NC_000007.13:g.25033620A>T
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#.

62 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss181 Sep 19, 2000 (36)
2 ABI ss43085771 Mar 14, 2006 (126)
3 AFFY ss74845412 Aug 16, 2007 (128)
4 HGSV ss81880259 Dec 14, 2007 (130)
5 BCMHGSC_JDW ss93646343 Mar 24, 2008 (129)
6 HUMANGENOME_JCVI ss98241128 Feb 04, 2009 (130)
7 BGI ss104410225 Dec 01, 2009 (131)
8 KRIBB_YJKIM ss104807674 Feb 04, 2009 (130)
9 1000GENOMES ss111692099 Jan 25, 2009 (130)
10 1000GENOMES ss113478544 Jan 25, 2009 (130)
11 ENSEMBL ss142760934 Dec 01, 2009 (131)
12 ENSEMBL ss142783747 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss163848736 Jul 04, 2010 (132)
14 COMPLETE_GENOMICS ss166295739 Jul 04, 2010 (132)
15 BUSHMAN ss203090082 Jul 04, 2010 (132)
16 1000GENOMES ss222968931 Jul 14, 2010 (132)
17 1000GENOMES ss233894669 Jul 15, 2010 (132)
18 1000GENOMES ss240866140 Jul 15, 2010 (132)
19 BL ss254128446 May 09, 2011 (134)
20 GMI ss279229280 May 04, 2012 (137)
21 GMI ss285592458 Apr 25, 2013 (138)
22 PJP ss294032350 May 09, 2011 (134)
23 TISHKOFF ss559876024 Apr 25, 2013 (138)
24 SSMP ss654229372 Apr 25, 2013 (138)
25 EVA-GONL ss984064657 Aug 21, 2014 (142)
26 JMKIDD_LAB ss1074451753 Aug 21, 2014 (142)
27 1000GENOMES ss1324348166 Aug 21, 2014 (142)
28 HAMMER_LAB ss1397488243 Sep 08, 2015 (146)
29 DDI ss1431061384 Apr 01, 2015 (144)
30 EVA_GENOME_DK ss1582116897 Apr 01, 2015 (144)
31 EVA_UK10K_ALSPAC ss1617795384 Apr 01, 2015 (144)
32 EVA_UK10K_TWINSUK ss1660789417 Apr 01, 2015 (144)
33 EVA_SVP ss1712939990 Apr 01, 2015 (144)
34 HAMMER_LAB ss1804917036 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1927309650 Feb 12, 2016 (147)
36 GENOMED ss1970651733 Jul 19, 2016 (147)
37 JJLAB ss2024332010 Sep 14, 2016 (149)
38 USC_VALOUEV ss2152528085 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2292530484 Dec 20, 2016 (150)
40 TOPMED ss2461391344 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2626654923 Nov 08, 2017 (151)
42 GRF ss2708184900 Nov 08, 2017 (151)
43 GNOMAD ss2850935005 Nov 08, 2017 (151)
44 SWEGEN ss3000794968 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3025960272 Nov 08, 2017 (151)
46 CSHL ss3347488504 Nov 08, 2017 (151)
47 TOPMED ss3525187323 Nov 08, 2017 (151)
48 TOPMED ss3525187324 Nov 08, 2017 (151)
49 URBANLAB ss3648585921 Oct 12, 2018 (152)
50 EGCUT_WGS ss3668723812 Jul 13, 2019 (153)
51 EVA_DECODE ss3719305507 Jul 13, 2019 (153)
52 ACPOP ss3734452341 Jul 13, 2019 (153)
53 EVA ss3766317408 Jul 13, 2019 (153)
54 KHV_HUMAN_GENOMES ss3809484872 Jul 13, 2019 (153)
55 EVA ss3830470817 Apr 26, 2020 (154)
56 EVA ss3838722691 Apr 26, 2020 (154)
57 EVA ss3844173951 Apr 26, 2020 (154)
58 SGDP_PRJ ss3866854304 Apr 26, 2020 (154)
59 KRGDB ss3913892522 Apr 26, 2020 (154)
60 KOGIC ss3961078571 Apr 26, 2020 (154)
61 TOPMED ss4739197707 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5182271667 Apr 26, 2021 (155)
63 1000Genomes NC_000007.13 - 25033620 Oct 12, 2018 (152)
64 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 25033620 Oct 12, 2018 (152)
65 Chileans NC_000007.13 - 25033620 Apr 26, 2020 (154)
66 Genome-wide autozygosity in Daghestan NC_000007.12 - 25000145 Apr 26, 2020 (154)
67 Genetic variation in the Estonian population NC_000007.13 - 25033620 Oct 12, 2018 (152)
68 The Danish reference pan genome NC_000007.13 - 25033620 Apr 26, 2020 (154)
69 gnomAD - Genomes NC_000007.14 - 24994001 Apr 26, 2021 (155)
70 Genome of the Netherlands Release 5 NC_000007.13 - 25033620 Apr 26, 2020 (154)
71 HapMap NC_000007.14 - 24994001 Apr 26, 2020 (154)
72 KOREAN population from KRGDB NC_000007.13 - 25033620 Apr 26, 2020 (154)
73 Korean Genome Project NC_000007.14 - 24994001 Apr 26, 2020 (154)
74 Northern Sweden NC_000007.13 - 25033620 Jul 13, 2019 (153)
75 Qatari NC_000007.13 - 25033620 Apr 26, 2020 (154)
76 SGDP_PRJ NC_000007.13 - 25033620 Apr 26, 2020 (154)
77 Siberian NC_000007.13 - 25033620 Apr 26, 2020 (154)
78 8.3KJPN NC_000007.13 - 25033620 Apr 26, 2021 (155)
79 TopMed NC_000007.14 - 24994001 Apr 26, 2021 (155)
80 UK 10K study - Twins NC_000007.13 - 25033620 Oct 12, 2018 (152)
81 A Vietnamese Genetic Variation Database NC_000007.13 - 25033620 Jul 13, 2019 (153)
82 ALFA NC_000007.14 - 24994001 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).

Associated ID History Updated (Build)
rs52817973 Sep 21, 2007 (128)
rs57852922 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81880259 NC_000007.11:24806859:A:G NC_000007.14:24994000:A:G (self)
462497, ss93646343, ss111692099, ss113478544, ss163848736, ss166295739, ss203090082, ss254128446, ss279229280, ss285592458, ss294032350, ss1397488243, ss1712939990 NC_000007.12:25000144:A:G NC_000007.14:24994000:A:G (self)
36290202, 20231418, 404161, 14462060, 8281836, 9020289, 21069916, 7737206, 9351580, 18871284, 5044439, 40240974, 20231418, 4507869, ss222968931, ss233894669, ss240866140, ss559876024, ss654229372, ss984064657, ss1074451753, ss1324348166, ss1431061384, ss1582116897, ss1617795384, ss1660789417, ss1804917036, ss1927309650, ss1970651733, ss2024332010, ss2152528085, ss2461391344, ss2626654923, ss2708184900, ss2850935005, ss3000794968, ss3347488504, ss3668723812, ss3734452341, ss3766317408, ss3830470817, ss3838722691, ss3866854304, ss3913892522, ss5182271667 NC_000007.13:25033619:A:G NC_000007.14:24994000:A:G (self)
255886932, 3358962, 17456572, 360682117, 576575266, 11488284392, ss2292530484, ss3025960272, ss3525187323, ss3648585921, ss3719305507, ss3809484872, ss3844173951, ss3961078571, ss4739197707 NC_000007.14:24994000:A:G NC_000007.14:24994000:A:G (self)
ss181, ss43085771, ss74845412, ss98241128, ss104410225, ss104807674, ss142760934, ss142783747 NT_007819.17:25023619:A:G NC_000007.14:24994000:A:G (self)
21069916, ss3913892522 NC_000007.13:25033619:A:T NC_000007.14:24994000:A:T (self)
11488284392, ss3525187324 NC_000007.14:24994000:A:T NC_000007.14:24994000:A:T (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 rs181

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