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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.

rs176

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:24991884 (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 / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.445782 (117994/264690, TOPMED)
G=0.437611 (61241/139944, GnomAD)
G=0.43180 (9314/21570, ALFA) (+ 17 more)
A=0.28727 (4814/16758, 8.3KJPN)
A=0.4375 (2191/5008, 1000G)
G=0.4290 (1922/4480, Estonian)
G=0.3822 (1473/3854, ALSPAC)
G=0.3708 (1375/3708, TWINSUK)
A=0.2744 (804/2930, KOREAN)
A=0.2533 (464/1832, Korea1K)
G=0.4630 (526/1136, Daghestan)
G=0.409 (408/998, GoNL)
G=0.412 (247/600, NorthernSweden)
G=0.340 (123/362, SGDP_PRJ)
G=0.361 (78/216, Qatari)
A=0.259 (55/212, Vietnamese)
A=0.387 (79/204, HapMap)
G=0.46 (36/78, Ancient Sardinia)
A=0.47 (19/40, GENOME_DK)
G=0.28 (10/36, 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.24991884G>A
GRCh38.p13 chr 7 NC_000007.14:g.24991884G>C
GRCh37.p13 chr 7 NC_000007.13:g.25031503G>A
GRCh37.p13 chr 7 NC_000007.13:g.25031503G>C
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 21570 G=0.43180 A=0.56820
European Sub 14286 G=0.39773 A=0.60227
African Sub 5574 G=0.4970 A=0.5030
African Others Sub 198 G=0.530 A=0.470
African American Sub 5376 G=0.4957 A=0.5043
Asian Sub 112 G=0.777 A=0.223
East Asian Sub 86 G=0.79 A=0.21
Other Asian Sub 26 G=0.73 A=0.27
Latin American 1 Sub 146 G=0.377 A=0.623
Latin American 2 Sub 610 G=0.567 A=0.433
South Asian Sub 98 G=0.54 A=0.46
Other Sub 744 G=0.431 A=0.569


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=0.445782 A=0.554218
gnomAD - Genomes Global Study-wide 139944 G=0.437611 A=0.562389
gnomAD - Genomes European Sub 75804 G=0.39209 A=0.60791
gnomAD - Genomes African Sub 41928 G=0.49082 A=0.50918
gnomAD - Genomes American Sub 13610 G=0.45540 A=0.54460
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.4124 A=0.5876
gnomAD - Genomes East Asian Sub 3134 G=0.7833 A=0.2167
gnomAD - Genomes Other Sub 2146 G=0.4273 A=0.5727
8.3KJPN JAPANESE Study-wide 16758 G=0.71273 A=0.28727
1000Genomes Global Study-wide 5008 G=0.5625 A=0.4375
1000Genomes African Sub 1322 G=0.5272 A=0.4728
1000Genomes East Asian Sub 1008 G=0.7490 A=0.2510
1000Genomes Europe Sub 1006 G=0.3956 A=0.6044
1000Genomes South Asian Sub 978 G=0.637 A=0.363
1000Genomes American Sub 694 G=0.496 A=0.504
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4290 A=0.5710
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3822 A=0.6178
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3708 A=0.6292
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7256 A=0.2744, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.7467 A=0.2533
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.4630 A=0.5370
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.422 A=0.578
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.438 A=0.562
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.623 A=0.377
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.370 A=0.630
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.70 A=0.30
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.36 A=0.64
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.409 A=0.591
Northern Sweden ACPOP Study-wide 600 G=0.412 A=0.588
SGDP_PRJ Global Study-wide 362 G=0.340 A=0.660
Qatari Global Study-wide 216 G=0.361 A=0.639
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.741 A=0.259
HapMap Global Study-wide 204 G=0.613 A=0.387
HapMap African Sub 116 G=0.552 A=0.448
HapMap Asian Sub 88 G=0.69 A=0.31
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 78 G=0.46 A=0.54
The Danish reference pan genome Danish Study-wide 40 G=0.53 A=0.47
Siberian Global Study-wide 36 G=0.28 A=0.72
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 C
GRCh38.p13 chr 7 NC_000007.14:g.24991884= NC_000007.14:g.24991884G>A NC_000007.14:g.24991884G>C
GRCh37.p13 chr 7 NC_000007.13:g.25031503= NC_000007.13:g.25031503G>A NC_000007.13:g.25031503G>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#.

70 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss176 Sep 19, 2000 (36)
2 TSC-CSHL ss2950263 Apr 12, 2001 (94)
3 CSHL-HAPMAP ss17925262 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19706730 Feb 27, 2004 (120)
5 SSAHASNP ss22592588 Apr 05, 2004 (121)
6 SSAHASNP ss22897304 Apr 05, 2004 (121)
7 PERLEGEN ss23405647 Sep 20, 2004 (123)
8 HGSV ss77831081 Dec 06, 2007 (129)
9 HGSV ss84471172 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss93646340 Mar 24, 2008 (129)
11 HUMANGENOME_JCVI ss98139990 Feb 05, 2009 (130)
12 BGI ss104410223 Dec 01, 2009 (131)
13 1000GENOMES ss111692078 Jan 25, 2009 (130)
14 1000GENOMES ss113478516 Jan 25, 2009 (130)
15 ENSEMBL ss139530097 Dec 01, 2009 (131)
16 ENSEMBL ss142760909 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163848695 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss166295680 Jul 04, 2010 (132)
19 BUSHMAN ss203090049 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss208058641 Jul 04, 2010 (132)
21 1000GENOMES ss222968921 Jul 14, 2010 (132)
22 1000GENOMES ss233894662 Jul 15, 2010 (132)
23 1000GENOMES ss240866134 Jul 15, 2010 (132)
24 BL ss254128438 May 09, 2011 (134)
25 GMI ss279229273 May 04, 2012 (137)
26 GMI ss285592453 Apr 25, 2013 (138)
27 PJP ss294032346 May 09, 2011 (134)
28 TISHKOFF ss559876012 Apr 25, 2013 (138)
29 SSMP ss654229360 Apr 25, 2013 (138)
30 EVA-GONL ss984064639 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1074451741 Aug 21, 2014 (142)
32 1000GENOMES ss1324348099 Aug 21, 2014 (142)
33 HAMMER_LAB ss1397488240 Sep 08, 2015 (146)
34 DDI ss1431061374 Apr 01, 2015 (144)
35 EVA_GENOME_DK ss1582116886 Apr 01, 2015 (144)
36 EVA_DECODE ss1593633534 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1617795333 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1660789366 Apr 01, 2015 (144)
39 HAMMER_LAB ss1804917027 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1927309627 Feb 12, 2016 (147)
41 GENOMED ss1970651728 Jul 19, 2016 (147)
42 JJLAB ss2024331999 Sep 14, 2016 (149)
43 USC_VALOUEV ss2152528076 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2292530353 Dec 20, 2016 (150)
45 TOPMED ss2461391209 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2626654917 Nov 08, 2017 (151)
47 GRF ss2708184890 Nov 08, 2017 (151)
48 GNOMAD ss2850934845 Nov 08, 2017 (151)
49 SWEGEN ss3000794943 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3025960265 Nov 08, 2017 (151)
51 CSHL ss3347488494 Nov 08, 2017 (151)
52 TOPMED ss3525186945 Nov 08, 2017 (151)
53 URBANLAB ss3648585917 Oct 12, 2018 (152)
54 EGCUT_WGS ss3668723787 Jul 13, 2019 (153)
55 EVA_DECODE ss3719305475 Jul 13, 2019 (153)
56 ACPOP ss3734452326 Jul 13, 2019 (153)
57 EVA ss3766317381 Jul 13, 2019 (153)
58 PACBIO ss3785760866 Jul 13, 2019 (153)
59 PACBIO ss3791071288 Jul 13, 2019 (153)
60 PACBIO ss3795951043 Jul 13, 2019 (153)
61 KHV_HUMAN_GENOMES ss3809484852 Jul 13, 2019 (153)
62 EVA ss3830470808 Apr 26, 2020 (154)
63 EVA ss3838722687 Apr 26, 2020 (154)
64 EVA ss3844173947 Apr 26, 2020 (154)
65 SGDP_PRJ ss3866854275 Apr 26, 2020 (154)
66 KRGDB ss3913892493 Apr 26, 2020 (154)
67 KOGIC ss3961078545 Apr 26, 2020 (154)
68 EVA ss3985283887 Apr 26, 2021 (155)
69 TOPMED ss4739197171 Apr 26, 2021 (155)
70 TOMMO_GENOMICS ss5182271611 Apr 26, 2021 (155)
71 1000Genomes NC_000007.13 - 25031503 Oct 12, 2018 (152)
72 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 25031503 Oct 12, 2018 (152)
73 Genome-wide autozygosity in Daghestan NC_000007.12 - 24998028 Apr 26, 2020 (154)
74 Genetic variation in the Estonian population NC_000007.13 - 25031503 Oct 12, 2018 (152)
75 The Danish reference pan genome NC_000007.13 - 25031503 Apr 26, 2020 (154)
76 gnomAD - Genomes NC_000007.14 - 24991884 Apr 26, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000007.13 - 25031503 Apr 26, 2020 (154)
78 HapMap NC_000007.14 - 24991884 Apr 26, 2020 (154)
79 KOREAN population from KRGDB NC_000007.13 - 25031503 Apr 26, 2020 (154)
80 Korean Genome Project NC_000007.14 - 24991884 Apr 26, 2020 (154)
81 Northern Sweden NC_000007.13 - 25031503 Jul 13, 2019 (153)
82 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 25031503 Apr 26, 2021 (155)
83 Qatari NC_000007.13 - 25031503 Apr 26, 2020 (154)
84 SGDP_PRJ NC_000007.13 - 25031503 Apr 26, 2020 (154)
85 Siberian NC_000007.13 - 25031503 Apr 26, 2020 (154)
86 8.3KJPN NC_000007.13 - 25031503 Apr 26, 2021 (155)
87 TopMed NC_000007.14 - 24991884 Apr 26, 2021 (155)
88 UK 10K study - Twins NC_000007.13 - 25031503 Oct 12, 2018 (152)
89 A Vietnamese Genetic Variation Database NC_000007.13 - 25031503 Jul 13, 2019 (153)
90 ALFA NC_000007.14 - 24991884 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)
rs58519135 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77831081, ss84471172 NC_000007.11:24804742:G:A NC_000007.14:24991883:G:A (self)
462494, ss93646340, ss111692078, ss113478516, ss163848695, ss166295680, ss203090049, ss208058641, ss254128438, ss279229273, ss285592453, ss294032346, ss1397488240, ss1593633534 NC_000007.12:24998027:G:A NC_000007.14:24991883:G:A (self)
36290132, 20231365, 14462035, 8281825, 9020271, 21069887, 7737191, 509814, 9351557, 18871255, 5044430, 40240918, 20231365, 4507860, ss222968921, ss233894662, ss240866134, ss559876012, ss654229360, ss984064639, ss1074451741, ss1324348099, ss1431061374, ss1582116886, ss1617795333, ss1660789366, ss1804917027, ss1927309627, ss1970651728, ss2024331999, ss2152528076, ss2461391209, ss2626654917, ss2708184890, ss2850934845, ss3000794943, ss3347488494, ss3668723787, ss3734452326, ss3766317381, ss3785760866, ss3791071288, ss3795951043, ss3830470808, ss3838722687, ss3866854275, ss3913892493, ss3985283887, ss5182271611 NC_000007.13:25031502:G:A NC_000007.14:24991883:G:A (self)
255886506, 3358956, 17456546, 360681768, 576574730, 13698594003, ss2292530353, ss3025960265, ss3525186945, ss3648585917, ss3719305475, ss3809484852, ss3844173947, ss3961078545, ss4739197171 NC_000007.14:24991883:G:A NC_000007.14:24991883:G:A (self)
ss17925262, ss19706730, ss22592588, ss22897304 NT_007819.14:24325110:G:A NC_000007.14:24991883:G:A (self)
ss176, ss2950263, ss23405647, ss98139990, ss104410223, ss139530097, ss142760909 NT_007819.17:25021502:G:A NC_000007.14:24991883:G:A (self)
21069887, ss3913892493 NC_000007.13:25031502:G:C NC_000007.14:24991883:G:C (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 rs176

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