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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs11568531

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:100390997 (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
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.007960 (2107/264690, TOPMED)
A=0.003382 (850/251340, GnomAD_exome)
A=0.006696 (939/140236, GnomAD) (+ 13 more)
A=0.003353 (407/121398, ExAC)
A=0.00375 (219/58436, ALFA)
A=0.00669 (87/13006, GO-ESP)
A=0.0084 (54/6404, 1000G_30x)
A=0.0082 (41/5008, 1000G)
A=0.0013 (5/3854, ALSPAC)
A=0.0011 (4/3708, TWINSUK)
A=0.007 (4/550, PharmGKB)
A=0.006 (3/534, MGP)
A=0.009 (2/216, Qatari)
A=0.03 (1/40, GENOME_DK)
C=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC17A8 : Intron 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 74792 C=0.99568 A=0.00432
European Sub 52610 C=0.99789 A=0.00211
African Sub 9068 C=0.9836 A=0.0164
African Others Sub 314 C=0.984 A=0.016
African American Sub 8754 C=0.9836 A=0.0164
Asian Sub 482 C=1.000 A=0.000
East Asian Sub 388 C=1.000 A=0.000
Other Asian Sub 94 C=1.00 A=0.00
Latin American 1 Sub 556 C=0.980 A=0.020
Latin American 2 Sub 838 C=0.994 A=0.006
South Asian Sub 132 C=1.000 A=0.000
Other Sub 11106 C=0.99577 A=0.00423


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=0.992040 A=0.007960
gnomAD - Exomes Global Study-wide 251340 C=0.996618 A=0.003382
gnomAD - Exomes European Sub 135288 C=0.998625 A=0.001375
gnomAD - Exomes Asian Sub 49010 C=0.99912 A=0.00088
gnomAD - Exomes American Sub 34584 C=0.99477 A=0.00523
gnomAD - Exomes African Sub 16256 C=0.98314 A=0.01686
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=0.98839 A=0.01161
gnomAD - Exomes Other Sub 6126 C=0.9920 A=0.0080
gnomAD - Genomes Global Study-wide 140236 C=0.993304 A=0.006696
gnomAD - Genomes European Sub 75942 C=0.99893 A=0.00107
gnomAD - Genomes African Sub 42034 C=0.98351 A=0.01649
gnomAD - Genomes American Sub 13658 C=0.99326 A=0.00674
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.9834 A=0.0166
gnomAD - Genomes East Asian Sub 3134 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 C=0.9916 A=0.0084
ExAC Global Study-wide 121398 C=0.996647 A=0.003353
ExAC Europe Sub 73352 C=0.99817 A=0.00183
ExAC Asian Sub 25160 C=0.99905 A=0.00095
ExAC American Sub 11574 C=0.99378 A=0.00622
ExAC African Sub 10404 C=0.98385 A=0.01615
ExAC Other Sub 908 C=0.990 A=0.010
Allele Frequency Aggregator Total Global 58436 C=0.99625 A=0.00375
Allele Frequency Aggregator European Sub 42526 C=0.99753 A=0.00247
Allele Frequency Aggregator Other Sub 9672 C=0.9959 A=0.0041
Allele Frequency Aggregator African Sub 4230 C=0.9863 A=0.0137
Allele Frequency Aggregator Latin American 2 Sub 838 C=0.994 A=0.006
Allele Frequency Aggregator Latin American 1 Sub 556 C=0.980 A=0.020
Allele Frequency Aggregator Asian Sub 482 C=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 132 C=1.000 A=0.000
GO Exome Sequencing Project Global Study-wide 13006 C=0.99331 A=0.00669
GO Exome Sequencing Project European American Sub 8600 C=0.9985 A=0.0015
GO Exome Sequencing Project African American Sub 4406 C=0.9832 A=0.0168
1000Genomes_30x Global Study-wide 6404 C=0.9916 A=0.0084
1000Genomes_30x African Sub 1786 C=0.9838 A=0.0162
1000Genomes_30x Europe Sub 1266 C=0.9976 A=0.0024
1000Genomes_30x South Asian Sub 1202 C=0.9983 A=0.0017
1000Genomes_30x East Asian Sub 1170 C=1.0000 A=0.0000
1000Genomes_30x American Sub 980 C=0.980 A=0.020
1000Genomes Global Study-wide 5008 C=0.9918 A=0.0082
1000Genomes African Sub 1322 C=0.9834 A=0.0166
1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000
1000Genomes Europe Sub 1006 C=0.9980 A=0.0020
1000Genomes South Asian Sub 978 C=0.998 A=0.002
1000Genomes American Sub 694 C=0.978 A=0.022
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9987 A=0.0013
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9989 A=0.0011
PharmGKB Aggregated Global Study-wide 550 C=0.993 A=0.007
PharmGKB Aggregated PA129619439 Sub 550 C=0.993 A=0.007
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.994 A=0.006
Qatari Global Study-wide 216 C=0.991 A=0.009
The Danish reference pan genome Danish Study-wide 40 C=0.97 A=0.03
SGDP_PRJ Global Study-wide 4 C=0.5 A=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 12 NC_000012.12:g.100390997C>A
GRCh37.p13 chr 12 NC_000012.11:g.100784775C>A
SLC17A8 RefSeqGene NG_021175.1:g.38919C>A
Gene: SLC17A8, solute carrier family 17 member 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC17A8 transcript variant 2 NM_001145288.2:c.355-4C>A N/A Intron Variant
SLC17A8 transcript variant 1 NM_139319.3:c.355-4C>A N/A Intron 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.

Allele: A (allele ID: 175382 )
ClinVar Accession Disease Names Clinical Significance
RCV000151879.4 not specified Benign
RCV000269634.3 Autosomal dominant nonsyndromic hearing loss 25 Benign
RCV000965248.5 not provided Benign
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= A
GRCh38.p14 chr 12 NC_000012.12:g.100390997= NC_000012.12:g.100390997C>A
GRCh37.p13 chr 12 NC_000012.11:g.100784775= NC_000012.11:g.100784775C>A
SLC17A8 RefSeqGene NG_021175.1:g.38919= NG_021175.1:g.38919C>A
SLC17A8 transcript variant 2 NM_001145288.1:c.355-4= NM_001145288.1:c.355-4C>A
SLC17A8 transcript variant 2 NM_001145288.2:c.355-4= NM_001145288.2:c.355-4C>A
SLC17A8 transcript variant 1 NM_139319.2:c.355-4= NM_139319.2:c.355-4C>A
SLC17A8 transcript variant 1 NM_139319.3:c.355-4= NM_139319.3:c.355-4C>A
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#.

38 SubSNP, 15 Frequency, 3 ClinVar submissions
No Submitter Submission ID Date (Build)
1 PHARMGKB_PMT ss69371672 May 17, 2007 (127)
2 ILLUMINA ss160687109 Dec 01, 2009 (131)
3 1000GENOMES ss225924022 Jul 14, 2010 (132)
4 ILLUMINA ss481962534 Sep 08, 2015 (146)
5 1000GENOMES ss491049343 May 04, 2012 (137)
6 CLINSEQ_SNP ss491670795 May 04, 2012 (137)
7 ILLUMINA ss534391385 Sep 08, 2015 (146)
8 TISHKOFF ss563360617 Apr 25, 2013 (138)
9 NHLBI-ESP ss713118403 Apr 25, 2013 (138)
10 PMT ss1040218642 Aug 21, 2014 (142)
11 1000GENOMES ss1346350857 Aug 21, 2014 (142)
12 EVA_GENOME_DK ss1576479897 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1629288351 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1672282384 Apr 01, 2015 (144)
15 EVA_EXAC ss1691063120 Apr 01, 2015 (144)
16 EVA_MGP ss1711339908 Apr 01, 2015 (144)
17 WEILL_CORNELL_DGM ss1933238607 Feb 12, 2016 (147)
18 HUMAN_LONGEVITY ss2192584193 Dec 20, 2016 (150)
19 GNOMAD ss2740062407 Nov 08, 2017 (151)
20 GNOMAD ss2748939300 Nov 08, 2017 (151)
21 GNOMAD ss2914361753 Nov 08, 2017 (151)
22 ILLUMINA ss3626950714 Oct 12, 2018 (152)
23 ILLUMINA ss3636205875 Oct 12, 2018 (152)
24 EVA_DECODE ss3694321483 Jul 13, 2019 (153)
25 EVA ss3824760928 Apr 27, 2020 (154)
26 EVA ss3825827020 Apr 27, 2020 (154)
27 SGDP_PRJ ss3878964142 Apr 27, 2020 (154)
28 FSA-LAB ss3984035082 Apr 26, 2021 (155)
29 EVA ss3986581976 Apr 26, 2021 (155)
30 TOPMED ss4930258012 Apr 26, 2021 (155)
31 1000G_HIGH_COVERAGE ss5291982063 Oct 16, 2022 (156)
32 EVA ss5407766462 Oct 16, 2022 (156)
33 HUGCELL_USP ss5486608794 Oct 16, 2022 (156)
34 1000G_HIGH_COVERAGE ss5590086556 Oct 16, 2022 (156)
35 SANFORD_IMAGENETICS ss5653818032 Oct 16, 2022 (156)
36 EVA ss5838415435 Oct 16, 2022 (156)
37 EVA ss5905728986 Oct 16, 2022 (156)
38 EVA ss5945212239 Oct 16, 2022 (156)
39 1000Genomes NC_000012.11 - 100784775 Oct 12, 2018 (152)
40 1000Genomes_30x NC_000012.12 - 100390997 Oct 16, 2022 (156)
41 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 100784775 Oct 12, 2018 (152)
42 ExAC NC_000012.11 - 100784775 Oct 12, 2018 (152)
43 The Danish reference pan genome NC_000012.11 - 100784775 Apr 27, 2020 (154)
44 gnomAD - Genomes NC_000012.12 - 100390997 Apr 26, 2021 (155)
45 gnomAD - Exomes NC_000012.11 - 100784775 Jul 13, 2019 (153)
46 GO Exome Sequencing Project NC_000012.11 - 100784775 Oct 12, 2018 (152)
47 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 100784775 Apr 27, 2020 (154)
48 PharmGKB Aggregated NC_000012.12 - 100390997 Apr 27, 2020 (154)
49 Qatari NC_000012.11 - 100784775 Apr 27, 2020 (154)
50 SGDP_PRJ NC_000012.11 - 100784775 Apr 27, 2020 (154)
51 TopMed NC_000012.12 - 100390997 Apr 26, 2021 (155)
52 UK 10K study - Twins NC_000012.11 - 100784775 Oct 12, 2018 (152)
53 ALFA NC_000012.12 - 100390997 Apr 26, 2021 (155)
54 ClinVar RCV000151879.4 Oct 16, 2022 (156)
55 ClinVar RCV000269634.3 Oct 16, 2022 (156)
56 ClinVar RCV000965248.5 Oct 16, 2022 (156)
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)
rs45535835 Mar 05, 2008 (129)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss491670795 NC_000012.10:99308905:C:A NC_000012.12:100390996:C:A (self)
59150967, 32843522, 1373363, 3098260, 9298336, 1218376, 455668, 15280537, 30981122, 32843522, ss225924022, ss481962534, ss491049343, ss534391385, ss563360617, ss713118403, ss1040218642, ss1346350857, ss1576479897, ss1629288351, ss1672282384, ss1691063120, ss1711339908, ss1933238607, ss2740062407, ss2748939300, ss2914361753, ss3626950714, ss3636205875, ss3824760928, ss3825827020, ss3878964142, ss3984035082, ss3986581976, ss5407766462, ss5653818032, ss5838415435, ss5945212239 NC_000012.11:100784774:C:A NC_000012.12:100390996:C:A (self)
RCV000151879.4, RCV000269634.3, RCV000965248.5, 77612491, 417243452, 2932, 145803669, 12744985355, ss2192584193, ss3694321483, ss4930258012, ss5291982063, ss5486608794, ss5590086556, ss5905728986 NC_000012.12:100390996:C:A NC_000012.12:100390996:C:A (self)
ss69371672, ss160687109 NT_029419.12:62928080:C:A NC_000012.12:100390996:C:A (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 rs11568531
PMID Title Author Year Journal
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
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