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dbSNP Short Genetic Variations

Reference SNP (rs) Report

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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.

rs6668352

Current Build 151

Released July 17, 2018

Organism
Homo sapiens
Position
chr1:11854772 (GRCh38.p7) 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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.22895 (28749/125568, TOPMED)
A=0.2297 (7087/30848, GnomAD)
A=0.222 (1113/5008, 1000G) (+ 2 more)
A=0.271 (1046/3854, ALSPAC)
A=0.278 (1032/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
3 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.p7 chr 1 NC_000001.11:g.11854772G>A
GRCh37.p13 chr 1 NC_000001.10:g.11914829G>A
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
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
Trans-Omics for Precision Medicine Global Study-wide 125568 G=0.77105 A=0.22895
The Genome Aggregation Database Global Study-wide 30848 G=0.7703 A=0.2297
The Genome Aggregation Database European Sub 18410 G=0.7416 A=0.2584
The Genome Aggregation Database African Sub 8708 G=0.809 A=0.191
The Genome Aggregation Database East Asian Sub 1616 G=0.858 A=0.142
The Genome Aggregation Database Other Sub 976 G=0.77 A=0.23
The Genome Aggregation Database American Sub 836 G=0.83 A=0.17
The Genome Aggregation Database Ashkenazi Jewish Sub 302 G=0.77 A=0.23
1000Genomes Global Study-wide 5008 G=0.778 A=0.222
1000Genomes African Sub 1322 G=0.820 A=0.180
1000Genomes East Asian Sub 1008 G=0.841 A=0.159
1000Genomes Europe Sub 1006 G=0.716 A=0.284
1000Genomes South Asian Sub 978 G=0.67 A=0.33
1000Genomes American Sub 694 G=0.85 A=0.15
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.729 A=0.271
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.722 A=0.278
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 Note
GRCh38.p7 chr 1 NC_000001.11:g.11854772G= NC_000001.11:g.11854772G>A
GRCh37.p13 chr 1 NC_000001.10:g.11914829G= NC_000001.10:g.11914829G>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#.

5 Frequency, 65 SubSNP submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9832576 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss19872970 Feb 27, 2004 (120)
3 PERLEGEN ss24235675 Sep 20, 2004 (123)
4 ABI ss43997299 Mar 15, 2006 (126)
5 KRIBB_YJKIM ss65839105 Dec 01, 2006 (127)
6 PERLEGEN ss68758630 May 18, 2007 (127)
7 HGSV ss78037776 Dec 06, 2007 (129)
8 HGSV ss81615312 Dec 14, 2007 (130)
9 BCMHGSC_JDW ss87223440 Mar 23, 2008 (129)
10 1000GENOMES ss107995131 Jan 22, 2009 (130)
11 ILLUMINA-UK ss118500365 Feb 14, 2009 (130)
12 ENSEMBL ss137798169 Dec 01, 2009 (131)
13 ILLUMINA ss160795997 Dec 01, 2009 (131)
14 ENSEMBL ss161163155 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss166100835 Jul 04, 2010 (132)
16 BUSHMAN ss198025733 Jul 04, 2010 (132)
17 1000GENOMES ss218238727 Jul 14, 2010 (132)
18 1000GENOMES ss230427898 Jul 14, 2010 (132)
19 1000GENOMES ss238142971 Jul 15, 2010 (132)
20 GMI ss275715454 May 04, 2012 (137)
21 GMI ss284001351 Apr 25, 2013 (138)
22 PJP ss290624017 May 09, 2011 (134)
23 ILLUMINA ss481310985 May 04, 2012 (137)
24 ILLUMINA ss481336032 May 04, 2012 (137)
25 ILLUMINA ss482318208 Sep 08, 2015 (146)
26 ILLUMINA ss485450689 May 04, 2012 (137)
27 ILLUMINA ss537376119 Sep 08, 2015 (146)
28 TISHKOFF ss553802266 Apr 25, 2013 (138)
29 SSMP ss647578160 Apr 25, 2013 (138)
30 ILLUMINA ss778575701 Sep 08, 2015 (146)
31 ILLUMINA ss783170788 Sep 08, 2015 (146)
32 ILLUMINA ss784126339 Sep 08, 2015 (146)
33 ILLUMINA ss832430329 Sep 08, 2015 (146)
34 ILLUMINA ss834032776 Sep 08, 2015 (146)
35 EVA-GONL ss974860733 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1067673001 Aug 21, 2014 (142)
37 1000GENOMES ss1289703125 Aug 21, 2014 (142)
38 HAMMER_LAB ss1397239718 Sep 08, 2015 (146)
39 DDI ss1425713936 Apr 01, 2015 (144)
40 EVA_GENOME_DK ss1573889715 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1599558624 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1642552657 Apr 01, 2015 (144)
43 ILLUMINA ss1751866749 Sep 08, 2015 (146)
44 HAMMER_LAB ss1793911678 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1918060578 Feb 12, 2016 (147)
46 JJLAB ss2019544230 Sep 14, 2016 (149)
47 USC_VALOUEV ss2147542321 Dec 20, 2016 (150)
48 HUMAN_LONGEVITY ss2160090382 Dec 20, 2016 (150)
49 TOPMED ss2322248236 Dec 20, 2016 (150)
50 ILLUMINA ss2632478110 Nov 08, 2017 (151)
51 GRF ss2697438884 Nov 08, 2017 (151)
52 GNOMAD ss2751679301 Nov 08, 2017 (151)
53 SWEGEN ss2986304289 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3023536392 Nov 08, 2017 (151)
55 TOPMED ss3068723302 Nov 08, 2017 (151)
56 CSHL ss3343319903 Nov 08, 2017 (151)
57 ILLUMINA ss3626027266 Jul 19, 2018 (151)
58 ILLUMINA ss3630516460 Jul 19, 2018 (151)
59 ILLUMINA ss3632880962 Jul 19, 2018 (151)
60 ILLUMINA ss3633574799 Jul 19, 2018 (151)
61 ILLUMINA ss3634307122 Jul 19, 2018 (151)
62 ILLUMINA ss3635268921 Jul 19, 2018 (151)
63 ILLUMINA ss3635983288 Jul 19, 2018 (151)
64 ILLUMINA ss3637019288 Jul 19, 2018 (151)
65 ILLUMINA ss3640014486 Jul 19, 2018 (151)
66 1000Genomes NC_000001.10 - 11914829 Jul 19, 2018 (151)
67 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 11914829 Jul 19, 2018 (151)
68 The Genome Aggregation Database NC_000001.10 - 11914829 Jul 19, 2018 (151)
69 Trans-Omics for Precision Medicine NC_000001.11 - 11854772 Jul 19, 2018 (151)
70 UK 10K study - Twins NC_000001.10 - 11914829 Jul 19, 2018 (151)
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)
rs17346314 Oct 07, 2004 (123)
rs57462968 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss78037776, ss81615312 NC_000001.8:11849094:G= NC_000001.11:11854771:G= (self)
ss87223440, ss107995131, ss118500365, ss166100835, ss198025733, ss275715454, ss284001351, ss290624017, ss481310985, ss1397239718 NC_000001.9:11837415:G= NC_000001.11:11854771:G= (self)
379931, 198191, 1078500, 198191, ss218238727, ss230427898, ss238142971, ss481336032, ss482318208, ss485450689, ss537376119, ss553802266, ss647578160, ss778575701, ss783170788, ss784126339, ss832430329, ss834032776, ss974860733, ss1067673001, ss1289703125, ss1425713936, ss1573889715, ss1599558624, ss1642552657, ss1751866749, ss1793911678, ss1918060578, ss2019544230, ss2147542321, ss2322248236, ss2632478110, ss2697438884, ss2751679301, ss2986304289, ss3343319903, ss3626027266, ss3630516460, ss3632880962, ss3633574799, ss3634307122, ss3635268921, ss3635983288, ss3637019288, ss3640014486 NC_000001.10:11914828:G= NC_000001.11:11854771:G= (self)
1886902, ss2160090382, ss3023536392, ss3068723302 NC_000001.11:11854771:G= NC_000001.11:11854771:G= (self)
ss9832576 NT_021937.15:2426762:G= NC_000001.11:11854771:G= (self)
ss19872970 NT_021937.16:6041887:G= NC_000001.11:11854771:G= (self)
ss24235675, ss43997299, ss65839105, ss68758630, ss137798169, ss160795997, ss161163155 NT_021937.19:7919560:G= NC_000001.11:11854771:G= (self)
ss78037776, ss81615312 NC_000001.8:11849094:G>A NC_000001.11:11854771:G>A (self)
ss87223440, ss107995131, ss118500365, ss166100835, ss198025733, ss275715454, ss284001351, ss290624017, ss481310985, ss1397239718 NC_000001.9:11837415:G>A NC_000001.11:11854771:G>A (self)
379931, 198191, 1078500, 198191, ss218238727, ss230427898, ss238142971, ss481336032, ss482318208, ss485450689, ss537376119, ss553802266, ss647578160, ss778575701, ss783170788, ss784126339, ss832430329, ss834032776, ss974860733, ss1067673001, ss1289703125, ss1425713936, ss1573889715, ss1599558624, ss1642552657, ss1751866749, ss1793911678, ss1918060578, ss2019544230, ss2147542321, ss2322248236, ss2632478110, ss2697438884, ss2751679301, ss2986304289, ss3343319903, ss3626027266, ss3630516460, ss3632880962, ss3633574799, ss3634307122, ss3635268921, ss3635983288, ss3637019288, ss3640014486 NC_000001.10:11914828:G>A NC_000001.11:11854771:G>A (self)
1886902, ss2160090382, ss3023536392, ss3068723302 NC_000001.11:11854771:G>A NC_000001.11:11854771:G>A (self)
ss9832576 NT_021937.15:2426762:G>A NC_000001.11:11854771:G>A (self)
ss19872970 NT_021937.16:6041887:G>A NC_000001.11:11854771:G>A (self)
ss24235675, ss43997299, ss65839105, ss68758630, ss137798169, ss160795997, ss161163155 NT_021937.19:7919560:G>A NC_000001.11:11854771:G>A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs6668352
PMID Title Author Year Journal
19326473 Natriuretic peptide system gene variants are associated with ventricular dysfunction after coronary artery bypass grafting. Fox AA et al. 2009 Anesthesiology
21273288 Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. Del Greco M F et al. 2011 Human molecular genetics
23958258 Ankle-brachial index in relation to the natriuretic peptide system polymorphisms and urinary sodium excretion in Chinese. Hu BC et al. 2013 Atherosclerosis

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: 0.1.4.post833+d3ba21e