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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.

rs12768206

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:88827 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.470524 (61952/131666, GnomAD)
G=0.23994 (4020/16754, 8.3KJPN)
G=0.46550 (5694/12232, ALFA) (+ 12 more)
G=0.4261 (2134/5008, 1000G)
G=0.4751 (1831/3854, ALSPAC)
G=0.4725 (1752/3708, TWINSUK)
G=0.2334 (684/2930, KOREAN)
G=0.2080 (381/1832, Korea1K)
A=0.499 (498/998, GoNL)
G=0.407 (244/600, NorthernSweden)
A=0.338 (121/358, SGDP_PRJ)
G=0.488 (160/328, HapMap)
G=0.435 (94/216, Qatari)
A=0.47 (19/40, GENOME_DK)
A=0.42 (15/36, 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 10 NC_000010.11:g.88827A>G
GRCh37.p13 chr 10 NC_000010.10:g.134767A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78827A>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 12232 A=0.53450 G=0.46550
European Sub 7752 A=0.5346 G=0.4654
African Sub 2864 A=0.4857 G=0.5143
African Others Sub 108 A=0.546 G=0.454
African American Sub 2756 A=0.4833 G=0.5167
Asian Sub 108 A=0.806 G=0.194
East Asian Sub 84 A=0.83 G=0.17
Other Asian Sub 24 A=0.71 G=0.29
Latin American 1 Sub 146 A=0.521 G=0.479
Latin American 2 Sub 610 A=0.654 G=0.346
South Asian Sub 94 A=0.70 G=0.30
Other Sub 658 A=0.570 G=0.430


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
gnomAD - Genomes Global Study-wide 131666 A=0.529476 G=0.470524
gnomAD - Genomes European Sub 73928 A=0.54356 G=0.45644
gnomAD - Genomes African Sub 36522 A=0.46506 G=0.53494
gnomAD - Genomes American Sub 13002 A=0.56399 G=0.43601
gnomAD - Genomes Ashkenazi Jewish Sub 3240 A=0.5481 G=0.4519
gnomAD - Genomes East Asian Sub 2940 A=0.8065 G=0.1935
gnomAD - Genomes Other Sub 2034 A=0.5236 G=0.4764
8.3KJPN JAPANESE Study-wide 16754 A=0.76006 G=0.23994
1000Genomes Global Study-wide 5008 A=0.5739 G=0.4261
1000Genomes African Sub 1322 A=0.3956 G=0.6044
1000Genomes East Asian Sub 1008 A=0.7718 G=0.2282
1000Genomes Europe Sub 1006 A=0.5308 G=0.4692
1000Genomes South Asian Sub 978 A=0.691 G=0.309
1000Genomes American Sub 694 A=0.523 G=0.477
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5249 G=0.4751
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5275 G=0.4725
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.7666 G=0.2334
Korean Genome Project KOREAN Study-wide 1832 A=0.7920 G=0.2080
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.499 G=0.501
Northern Sweden ACPOP Study-wide 600 A=0.593 G=0.407
SGDP_PRJ Global Study-wide 358 A=0.338 G=0.662
HapMap Global Study-wide 328 A=0.512 G=0.488
HapMap African Sub 120 A=0.333 G=0.667
HapMap American Sub 120 A=0.508 G=0.492
HapMap Asian Sub 88 A=0.76 G=0.24
Qatari Global Study-wide 216 A=0.565 G=0.435
The Danish reference pan genome Danish Study-wide 40 A=0.47 G=0.53
Siberian Global Study-wide 36 A=0.42 G=0.58
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
GRCh38.p13 chr 10 NC_000010.11:g.88827= NC_000010.11:g.88827A>G
GRCh37.p13 chr 10 NC_000010.10:g.134767= NC_000010.10:g.134767A>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78827= NW_003571043.1:g.78827A>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#.

55 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss20650148 Apr 05, 2004 (121)
2 ABI ss39725817 Mar 14, 2006 (126)
3 BCMHGSC_JDW ss88057443 Mar 23, 2008 (129)
4 HUMANGENOME_JCVI ss97613058 Feb 04, 2009 (130)
5 ENSEMBL ss107936005 Feb 04, 2009 (130)
6 1000GENOMES ss109145781 Jan 23, 2009 (130)
7 ILLUMINA-UK ss118963259 Feb 15, 2009 (130)
8 ENSEMBL ss131850596 Dec 01, 2009 (131)
9 ILLUMINA ss153280126 Dec 01, 2009 (131)
10 ILLUMINA ss159234321 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss167614016 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss168823582 Jul 04, 2010 (132)
13 ILLUMINA ss170226807 Jul 04, 2010 (132)
14 ILLUMINA ss172242456 Jul 04, 2010 (132)
15 BUSHMAN ss201023404 Jul 04, 2010 (132)
16 1000GENOMES ss224512389 Jul 14, 2010 (132)
17 1000GENOMES ss235012281 Jul 15, 2010 (132)
18 1000GENOMES ss241753233 Jul 15, 2010 (132)
19 BL ss253971577 May 09, 2011 (134)
20 GMI ss280440396 May 04, 2012 (137)
21 PJP ss290815803 May 09, 2011 (134)
22 SSMP ss656208282 Apr 25, 2013 (138)
23 ILLUMINA ss832746657 Aug 21, 2014 (142)
24 ILLUMINA ss833337487 Aug 21, 2014 (142)
25 EVA-GONL ss987096784 Aug 21, 2014 (142)
26 1000GENOMES ss1335912950 Aug 21, 2014 (142)
27 DDI ss1426189109 Apr 09, 2015 (144)
28 EVA_GENOME_DK ss1574842104 Apr 09, 2015 (144)
29 EVA_UK10K_ALSPAC ss1623797609 Apr 09, 2015 (144)
30 EVA_UK10K_TWINSUK ss1666791642 Apr 09, 2015 (144)
31 WEILL_CORNELL_DGM ss1930414769 Feb 17, 2016 (147)
32 JJLAB ss2025929574 Sep 28, 2016 (149)
33 USC_VALOUEV ss2154169630 Oct 12, 2018 (152)
34 HUMAN_LONGEVITY ss2171932788 Dec 20, 2016 (150)
35 GRF ss2698389028 Oct 12, 2018 (152)
36 GNOMAD ss2884519317 Oct 12, 2018 (152)
37 TOPMED ss3109332642 Nov 08, 2017 (151)
38 CSHL ss3348911624 Oct 12, 2018 (152)
39 ILLUMINA ss3637828199 Oct 12, 2018 (152)
40 URBANLAB ss3649265503 Oct 12, 2018 (152)
41 EVA_DECODE ss3689095362 Jul 13, 2019 (153)
42 ACPOP ss3736974316 Jul 13, 2019 (153)
43 EVA ss3747627365 Jul 13, 2019 (153)
44 PACBIO ss3786553503 Jul 13, 2019 (153)
45 PACBIO ss3791748158 Jul 13, 2019 (153)
46 PACBIO ss3796629780 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3812993345 Jul 13, 2019 (153)
48 EVA ss3831916749 Apr 26, 2020 (154)
49 EVA ss3839487160 Apr 26, 2020 (154)
50 EVA ss3844952628 Apr 26, 2020 (154)
51 SGDP_PRJ ss3873326470 Apr 26, 2020 (154)
52 KRGDB ss3921253498 Apr 26, 2020 (154)
53 KOGIC ss3967022888 Apr 26, 2020 (154)
54 GNOMAD ss4211411030 Apr 26, 2021 (155)
55 TOMMO_GENOMICS ss5195848134 Apr 26, 2021 (155)
56 1000Genomes NC_000010.10 - 134767 Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 134767 Oct 12, 2018 (152)
58 The Danish reference pan genome NC_000010.10 - 134767 Apr 26, 2020 (154)
59 gnomAD - Genomes NC_000010.11 - 88827 Apr 26, 2021 (155)
60 Genome of the Netherlands Release 5 NC_000010.10 - 134767 Apr 26, 2020 (154)
61 HapMap NC_000010.11 - 88827 Apr 26, 2020 (154)
62 KOREAN population from KRGDB NC_000010.10 - 134767 Apr 26, 2020 (154)
63 Korean Genome Project NC_000010.11 - 88827 Apr 26, 2020 (154)
64 Northern Sweden NC_000010.10 - 134767 Jul 13, 2019 (153)
65 Qatari NC_000010.10 - 134767 Apr 26, 2020 (154)
66 SGDP_PRJ NC_000010.10 - 134767 Apr 26, 2020 (154)
67 Siberian NC_000010.10 - 134767 Apr 26, 2020 (154)
68 8.3KJPN NC_000010.10 - 134767 Apr 26, 2021 (155)
69 UK 10K study - Twins NC_000010.10 - 134767 Oct 12, 2018 (152)
70 ALFA NC_000010.11 - 88827 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
ss88057443, ss109145781, ss118963259, ss167614016, ss168823582, ss201023404, ss253971577, ss280440396, ss290815803 NC_000010.9:124766:A:G NC_000010.11:88826:A:G (self)
48246659, 26806393, 1988117, 11953911, 28430892, 10259181, 12456699, 25343450, 6685984, 53817441, 26806393, ss224512389, ss235012281, ss241753233, ss656208282, ss832746657, ss833337487, ss987096784, ss1335912950, ss1426189109, ss1574842104, ss1623797609, ss1666791642, ss1930414769, ss2025929574, ss2154169630, ss2698389028, ss2884519317, ss3348911624, ss3637828199, ss3736974316, ss3747627365, ss3786553503, ss3791748158, ss3796629780, ss3831916749, ss3839487160, ss3873326470, ss3921253498, ss5195848134 NC_000010.10:134766:A:G NC_000010.11:88826:A:G (self)
340934211, 317106, 23400889, 2225273661, ss2171932788, ss3109332642, ss3649265503, ss3689095362, ss3812993345, ss3844952628, ss3967022888, ss4211411030 NC_000010.11:88826:A:G NC_000010.11:88826:A:G (self)
ss39725817, ss97613058, ss107936005, ss131850596, ss153280126, ss159234321, ss170226807, ss172242456 NT_008705.16:74766:A:G NC_000010.11:88826:A:G (self)
ss20650148 NT_077567.3:74766:A:G NC_000010.11:88826:A: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 rs12768206

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