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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.

rs12456529

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr18:51165295 (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
C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.166916 (44181/264690, TOPMED)
G=0.169085 (23702/140178, GnomAD)
G=0.19868 (4423/22262, ALFA) (+ 14 more)
G=0.26247 (4399/16760, 8.3KJPN)
G=0.1719 (861/5008, 1000G)
G=0.2304 (1032/4480, Estonian)
G=0.2146 (827/3854, ALSPAC)
G=0.2101 (779/3708, TWINSUK)
G=0.2358 (689/2922, KOREAN)
G=0.1556 (277/1780, HapMap)
G=0.182 (182/998, GoNL)
G=0.190 (114/600, NorthernSweden)
C=0.402 (94/234, SGDP_PRJ)
G=0.236 (51/216, Qatari)
G=0.233 (49/210, Vietnamese)
G=0.12 (5/40, GENOME_DK)
C=0.39 (11/28, 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 18 NC_000018.10:g.51165295C>G
GRCh37.p13 chr 18 NC_000018.9:g.48691665C>G
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 (New)
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 22262 C=0.80132 G=0.19868
European Sub 17592 C=0.77660 G=0.22340
African Sub 2946 C=0.9603 G=0.0397
African Others Sub 114 C=1.000 G=0.000
African American Sub 2832 C=0.9587 G=0.0413
Asian Sub 112 C=0.723 G=0.277
East Asian Sub 86 C=0.74 G=0.26
Other Asian Sub 26 C=0.65 G=0.35
Latin American 1 Sub 146 C=0.829 G=0.171
Latin American 2 Sub 610 C=0.774 G=0.226
South Asian Sub 98 C=0.71 G=0.29
Other Sub 758 C=0.797 G=0.203


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 C=0.833084 G=0.166916
gnomAD - Genomes Global Study-wide 140178 C=0.830915 G=0.169085
gnomAD - Genomes European Sub 75890 C=0.77558 G=0.22442
gnomAD - Genomes African Sub 42034 C=0.95611 G=0.04389
gnomAD - Genomes American Sub 13652 C=0.78604 G=0.21396
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7634 G=0.2366
gnomAD - Genomes East Asian Sub 3128 C=0.7864 G=0.2136
gnomAD - Genomes Other Sub 2152 C=0.7904 G=0.2096
8.3KJPN JAPANESE Study-wide 16760 C=0.73753 G=0.26247
1000Genomes Global Study-wide 5008 C=0.8281 G=0.1719
1000Genomes African Sub 1322 C=0.9871 G=0.0129
1000Genomes East Asian Sub 1008 C=0.7629 G=0.2371
1000Genomes Europe Sub 1006 C=0.7803 G=0.2197
1000Genomes South Asian Sub 978 C=0.756 G=0.244
1000Genomes American Sub 694 C=0.791 G=0.209
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7696 G=0.2304
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7854 G=0.2146
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7899 G=0.2101
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.7642 G=0.2358
HapMap Global Study-wide 1780 C=0.8444 G=0.1556
HapMap American Sub 770 C=0.800 G=0.200
HapMap African Sub 580 C=0.959 G=0.041
HapMap Asian Sub 254 C=0.748 G=0.252
HapMap Europe Sub 176 C=0.801 G=0.199
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.818 G=0.182
Northern Sweden ACPOP Study-wide 600 C=0.810 G=0.190
SGDP_PRJ Global Study-wide 234 C=0.402 G=0.598
Qatari Global Study-wide 216 C=0.764 G=0.236
A Vietnamese Genetic Variation Database Global Study-wide 210 C=0.767 G=0.233
The Danish reference pan genome Danish Study-wide 40 C=0.88 G=0.12
Siberian Global Study-wide 28 C=0.39 G=0.61
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 C= G
GRCh38.p13 chr 18 NC_000018.10:g.51165295= NC_000018.10:g.51165295C>G
GRCh37.p13 chr 18 NC_000018.9:g.48691665= NC_000018.9:g.48691665C>G
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#.

88 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss19384760 Feb 28, 2004 (120)
2 PERLEGEN ss24199526 Sep 20, 2004 (123)
3 ABI ss44137544 Mar 14, 2006 (126)
4 AFFY ss66308389 Dec 01, 2006 (127)
5 PERLEGEN ss69214610 May 18, 2007 (127)
6 AFFY ss75986073 Dec 07, 2007 (129)
7 KRIBB_YJKIM ss82981795 Dec 15, 2007 (130)
8 HUMANGENOME_JCVI ss96511438 Feb 06, 2009 (130)
9 BGI ss103395536 Dec 01, 2009 (131)
10 1000GENOMES ss110534106 Jan 24, 2009 (130)
11 ENSEMBL ss132688366 Dec 01, 2009 (131)
12 GMI ss155176136 Dec 01, 2009 (131)
13 ILLUMINA ss160272714 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss168239373 Jul 04, 2010 (132)
15 AFFY ss170041462 Jul 04, 2010 (132)
16 ILLUMINA ss172094846 Jul 04, 2010 (132)
17 1000GENOMES ss237474217 Jul 15, 2010 (132)
18 1000GENOMES ss243722105 Jul 15, 2010 (132)
19 GMI ss282998638 May 04, 2012 (137)
20 PJP ss292072800 May 09, 2011 (134)
21 ILLUMINA ss479744576 May 04, 2012 (137)
22 ILLUMINA ss479750407 May 04, 2012 (137)
23 ILLUMINA ss480307394 Sep 08, 2015 (146)
24 ILLUMINA ss484670593 May 04, 2012 (137)
25 ILLUMINA ss536783644 Sep 08, 2015 (146)
26 TISHKOFF ss565654509 Apr 25, 2013 (138)
27 SSMP ss661487504 Apr 25, 2013 (138)
28 ILLUMINA ss778342329 Aug 21, 2014 (142)
29 ILLUMINA ss782782148 Aug 21, 2014 (142)
30 ILLUMINA ss783748064 Aug 21, 2014 (142)
31 ILLUMINA ss832034736 Apr 01, 2015 (144)
32 ILLUMINA ss833796939 Aug 21, 2014 (142)
33 EVA-GONL ss993751537 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1081517014 Aug 21, 2014 (142)
35 1000GENOMES ss1361122672 Aug 21, 2014 (142)
36 DDI ss1428223257 Apr 01, 2015 (144)
37 EVA_GENOME_DK ss1578412662 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1636926577 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1679920610 Apr 01, 2015 (144)
40 EVA_DECODE ss1697811158 Apr 01, 2015 (144)
41 EVA_SVP ss1713627902 Apr 01, 2015 (144)
42 ILLUMINA ss1752258994 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1937219101 Feb 12, 2016 (147)
44 GENOMED ss1968528761 Jul 19, 2016 (147)
45 JJLAB ss2029379017 Sep 14, 2016 (149)
46 USC_VALOUEV ss2157885417 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2221775232 Dec 20, 2016 (150)
48 TOPMED ss2387173814 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2629187291 Nov 08, 2017 (151)
50 ILLUMINA ss2633475991 Nov 08, 2017 (151)
51 GRF ss2702474468 Nov 08, 2017 (151)
52 GNOMAD ss2956964248 Nov 08, 2017 (151)
53 SWEGEN ss3016565294 Nov 08, 2017 (151)
54 ILLUMINA ss3021845784 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3028518317 Nov 08, 2017 (151)
56 TOPMED ss3279935816 Nov 08, 2017 (151)
57 CSHL ss3352033411 Nov 08, 2017 (151)
58 ILLUMINA ss3627814730 Oct 12, 2018 (152)
59 ILLUMINA ss3631452490 Oct 12, 2018 (152)
60 ILLUMINA ss3633163471 Oct 12, 2018 (152)
61 ILLUMINA ss3633872296 Oct 12, 2018 (152)
62 ILLUMINA ss3634707247 Oct 12, 2018 (152)
63 ILLUMINA ss3635559556 Oct 12, 2018 (152)
64 ILLUMINA ss3636396558 Oct 12, 2018 (152)
65 ILLUMINA ss3637311173 Oct 12, 2018 (152)
66 ILLUMINA ss3638197634 Oct 12, 2018 (152)
67 ILLUMINA ss3640414555 Oct 12, 2018 (152)
68 URBANLAB ss3650795103 Oct 12, 2018 (152)
69 ILLUMINA ss3652267808 Oct 12, 2018 (152)
70 EGCUT_WGS ss3683407556 Jul 13, 2019 (153)
71 EVA_DECODE ss3701706051 Jul 13, 2019 (153)
72 ILLUMINA ss3725678997 Jul 13, 2019 (153)
73 ACPOP ss3742562857 Jul 13, 2019 (153)
74 ILLUMINA ss3745007390 Jul 13, 2019 (153)
75 EVA ss3755419146 Jul 13, 2019 (153)
76 ILLUMINA ss3772504870 Jul 13, 2019 (153)
77 PACBIO ss3788376672 Jul 13, 2019 (153)
78 PACBIO ss3793306968 Jul 13, 2019 (153)
79 PACBIO ss3798193328 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3820678184 Jul 13, 2019 (153)
81 EVA ss3835180656 Apr 27, 2020 (154)
82 EVA ss3841207863 Apr 27, 2020 (154)
83 EVA ss3846710055 Apr 27, 2020 (154)
84 SGDP_PRJ ss3887068538 Apr 27, 2020 (154)
85 KRGDB ss3936945910 Apr 27, 2020 (154)
86 EVA ss4017799519 Apr 26, 2021 (155)
87 TOPMED ss5057564791 Apr 26, 2021 (155)
88 TOMMO_GENOMICS ss5225280432 Apr 26, 2021 (155)
89 1000Genomes NC_000018.9 - 48691665 Oct 12, 2018 (152)
90 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 48691665 Oct 12, 2018 (152)
91 Genetic variation in the Estonian population NC_000018.9 - 48691665 Oct 12, 2018 (152)
92 The Danish reference pan genome NC_000018.9 - 48691665 Apr 27, 2020 (154)
93 gnomAD - Genomes NC_000018.10 - 51165295 Apr 26, 2021 (155)
94 Genome of the Netherlands Release 5 NC_000018.9 - 48691665 Apr 27, 2020 (154)
95 HapMap NC_000018.10 - 51165295 Apr 27, 2020 (154)
96 KOREAN population from KRGDB NC_000018.9 - 48691665 Apr 27, 2020 (154)
97 Northern Sweden NC_000018.9 - 48691665 Jul 13, 2019 (153)
98 Qatari NC_000018.9 - 48691665 Apr 27, 2020 (154)
99 SGDP_PRJ NC_000018.9 - 48691665 Apr 27, 2020 (154)
100 Siberian NC_000018.9 - 48691665 Apr 27, 2020 (154)
101 8.3KJPN NC_000018.9 - 48691665 Apr 26, 2021 (155)
102 TopMed NC_000018.10 - 51165295 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000018.9 - 48691665 Oct 12, 2018 (152)
104 A Vietnamese Genetic Variation Database NC_000018.9 - 48691665 Jul 13, 2019 (153)
105 ALFA NC_000018.10 - 51165295 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)
rs17811702 Oct 08, 2004 (123)
rs60065902 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66308389, ss75986073, ss110534106, ss168239373, ss170041462, ss282998638, ss292072800, ss479744576, ss1697811158, ss1713627902 NC_000018.8:46945662:C:G NC_000018.10:51165294:C:G (self)
74455050, 41254781, 29145804, 4604312, 18378637, 44123304, 15847722, 19261023, 39085518, 10401771, 83249739, 41254781, 9114363, ss237474217, ss243722105, ss479750407, ss480307394, ss484670593, ss536783644, ss565654509, ss661487504, ss778342329, ss782782148, ss783748064, ss832034736, ss833796939, ss993751537, ss1081517014, ss1361122672, ss1428223257, ss1578412662, ss1636926577, ss1679920610, ss1752258994, ss1937219101, ss1968528761, ss2029379017, ss2157885417, ss2387173814, ss2629187291, ss2633475991, ss2702474468, ss2956964248, ss3016565294, ss3021845784, ss3352033411, ss3627814730, ss3631452490, ss3633163471, ss3633872296, ss3634707247, ss3635559556, ss3636396558, ss3637311173, ss3638197634, ss3640414555, ss3652267808, ss3683407556, ss3742562857, ss3745007390, ss3755419146, ss3772504870, ss3788376672, ss3793306968, ss3798193328, ss3835180656, ss3841207863, ss3887068538, ss3936945910, ss4017799519, ss5225280432 NC_000018.9:48691664:C:G NC_000018.10:51165294:C:G (self)
525243835, 1606679, 170400185, 273110454, 3778482752, ss2221775232, ss3028518317, ss3279935816, ss3650795103, ss3701706051, ss3725678997, ss3820678184, ss3846710055, ss5057564791 NC_000018.10:51165294:C:G NC_000018.10:51165294:C:G (self)
ss19384760 NT_010966.13:30180766:C:G NC_000018.10:51165294:C:G (self)
ss24199526, ss44137544, ss69214610, ss82981795, ss96511438, ss103395536, ss132688366, ss155176136, ss160272714, ss172094846 NT_010966.14:30180766:C:G NC_000018.10:51165294:C: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 rs12456529

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