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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.

rs7334162

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28598553 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.156863 (41520/264690, TOPMED)
T=0.145205 (20345/140112, GnomAD)
T=0.14182 (2679/18890, ALFA) (+ 15 more)
T=0.25084 (4204/16760, 8.3KJPN)
T=0.1813 (908/5008, 1000G)
T=0.1141 (511/4480, Estonian)
T=0.1606 (619/3854, ALSPAC)
T=0.1553 (576/3708, TWINSUK)
T=0.2078 (609/2930, KOREAN)
T=0.1938 (355/1832, Korea1K)
T=0.166 (166/998, GoNL)
T=0.163 (98/600, NorthernSweden)
T=0.167 (55/330, HapMap)
T=0.130 (28/216, Qatari)
T=0.176 (38/216, Vietnamese)
C=0.398 (78/196, SGDP_PRJ)
T=0.05 (2/40, GENOME_DK)
C=0.42 (5/12, 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 13 NC_000013.11:g.28598553C>T
GRCh37.p13 chr 13 NC_000013.10:g.29172690C>T
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 18890 C=0.85818 T=0.14182
European Sub 14286 C=0.86413 T=0.13587
African Sub 2946 C=0.8683 T=0.1317
African Others Sub 114 C=0.816 T=0.184
African American Sub 2832 C=0.8704 T=0.1296
Asian Sub 112 C=0.812 T=0.188
East Asian Sub 86 C=0.83 T=0.17
Other Asian Sub 26 C=0.77 T=0.23
Latin American 1 Sub 146 C=0.808 T=0.192
Latin American 2 Sub 610 C=0.730 T=0.270
South Asian Sub 98 C=0.80 T=0.20
Other Sub 692 C=0.832 T=0.168


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=0.843137 T=0.156863
gnomAD - Genomes Global Study-wide 140112 C=0.854795 T=0.145205
gnomAD - Genomes European Sub 75888 C=0.85799 T=0.14201
gnomAD - Genomes African Sub 41982 C=0.87211 T=0.12789
gnomAD - Genomes American Sub 13642 C=0.77672 T=0.22328
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9262 T=0.0738
gnomAD - Genomes East Asian Sub 3126 C=0.8209 T=0.1791
gnomAD - Genomes Other Sub 2152 C=0.8383 T=0.1617
8.3KJPN JAPANESE Study-wide 16760 C=0.74916 T=0.25084
1000Genomes Global Study-wide 5008 C=0.8187 T=0.1813
1000Genomes African Sub 1322 C=0.8548 T=0.1452
1000Genomes East Asian Sub 1008 C=0.8185 T=0.1815
1000Genomes Europe Sub 1006 C=0.8748 T=0.1252
1000Genomes South Asian Sub 978 C=0.734 T=0.266
1000Genomes American Sub 694 C=0.788 T=0.212
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8859 T=0.1141
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8394 T=0.1606
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8447 T=0.1553
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.7922 T=0.2078
Korean Genome Project KOREAN Study-wide 1832 C=0.8062 T=0.1938
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.834 T=0.166
Northern Sweden ACPOP Study-wide 600 C=0.837 T=0.163
HapMap Global Study-wide 330 C=0.833 T=0.167
HapMap African Sub 120 C=0.808 T=0.192
HapMap American Sub 120 C=0.867 T=0.133
HapMap Asian Sub 90 C=0.82 T=0.18
Qatari Global Study-wide 216 C=0.870 T=0.130
A Vietnamese Genetic Variation Database Global Study-wide 216 C=0.824 T=0.176
SGDP_PRJ Global Study-wide 196 C=0.398 T=0.602
The Danish reference pan genome Danish Study-wide 40 C=0.95 T=0.05
Siberian Global Study-wide 12 C=0.42 T=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 C= T
GRCh38.p13 chr 13 NC_000013.11:g.28598553= NC_000013.11:g.28598553C>T
GRCh37.p13 chr 13 NC_000013.10:g.29172690= NC_000013.10:g.29172690C>T
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#.

45 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss11089430 Jul 11, 2003 (116)
2 SC_SNP ss13254271 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss16610256 Feb 27, 2004 (120)
4 1000GENOMES ss114466605 Jan 25, 2009 (130)
5 ENSEMBL ss161585213 Dec 01, 2009 (131)
6 COMPLETE_GENOMICS ss169070995 Jul 04, 2010 (132)
7 BCM-HGSC-SUB ss208628307 Jul 04, 2010 (132)
8 1000GENOMES ss226099128 Jul 14, 2010 (132)
9 1000GENOMES ss236190462 Jul 15, 2010 (132)
10 1000GENOMES ss242697975 Jul 15, 2010 (132)
11 GMI ss281652962 May 04, 2012 (137)
12 PJP ss291564784 May 09, 2011 (134)
13 TISHKOFF ss563571464 Apr 25, 2013 (138)
14 SSMP ss659167251 Apr 25, 2013 (138)
15 EVA-GONL ss990228218 Aug 21, 2014 (142)
16 JMKIDD_LAB ss1078963538 Aug 21, 2014 (142)
17 1000GENOMES ss1347618996 Aug 21, 2014 (142)
18 DDI ss1427140428 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1576694863 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1629956779 Apr 01, 2015 (144)
21 EVA_DECODE ss1642332787 Apr 01, 2015 (144)
22 EVA_UK10K_TWINSUK ss1672950812 Apr 01, 2015 (144)
23 WEILL_CORNELL_DGM ss1933597174 Feb 12, 2016 (147)
24 GENOMED ss1967743314 Jul 19, 2016 (147)
25 JJLAB ss2027554229 Sep 14, 2016 (149)
26 USC_VALOUEV ss2155918980 Dec 20, 2016 (150)
27 HUMAN_LONGEVITY ss2195101230 Dec 20, 2016 (150)
28 TOPMED ss2359201339 Dec 20, 2016 (150)
29 GRF ss2700291114 Nov 08, 2017 (151)
30 GNOMAD ss2917942276 Nov 08, 2017 (151)
31 SWEGEN ss3010774093 Nov 08, 2017 (151)
32 BIOINF_KMB_FNS_UNIBA ss3027592649 Nov 08, 2017 (151)
33 TOPMED ss3188778055 Nov 08, 2017 (151)
34 CSHL ss3350381873 Nov 08, 2017 (151)
35 EGCUT_WGS ss3678034804 Jul 13, 2019 (153)
36 EVA_DECODE ss3694991235 Jul 13, 2019 (153)
37 ACPOP ss3739612333 Jul 13, 2019 (153)
38 EVA ss3751275642 Jul 13, 2019 (153)
39 KHV_HUMAN_GENOMES ss3816606667 Jul 13, 2019 (153)
40 EVA ss3833466829 Apr 27, 2020 (154)
41 SGDP_PRJ ss3879660503 Apr 27, 2020 (154)
42 KRGDB ss3928481945 Apr 27, 2020 (154)
43 KOGIC ss3973268027 Apr 27, 2020 (154)
44 TOPMED ss4940991695 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5209316072 Apr 26, 2021 (155)
46 1000Genomes NC_000013.10 - 29172690 Oct 12, 2018 (152)
47 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29172690 Oct 12, 2018 (152)
48 Genetic variation in the Estonian population NC_000013.10 - 29172690 Oct 12, 2018 (152)
49 The Danish reference pan genome NC_000013.10 - 29172690 Apr 27, 2020 (154)
50 gnomAD - Genomes NC_000013.11 - 28598553 Apr 26, 2021 (155)
51 Genome of the Netherlands Release 5 NC_000013.10 - 29172690 Apr 27, 2020 (154)
52 HapMap NC_000013.11 - 28598553 Apr 27, 2020 (154)
53 KOREAN population from KRGDB NC_000013.10 - 29172690 Apr 27, 2020 (154)
54 Korean Genome Project NC_000013.11 - 28598553 Apr 27, 2020 (154)
55 Northern Sweden NC_000013.10 - 29172690 Jul 13, 2019 (153)
56 Qatari NC_000013.10 - 29172690 Apr 27, 2020 (154)
57 SGDP_PRJ NC_000013.10 - 29172690 Apr 27, 2020 (154)
58 Siberian NC_000013.10 - 29172690 Apr 27, 2020 (154)
59 8.3KJPN NC_000013.10 - 29172690 Apr 26, 2021 (155)
60 TopMed NC_000013.11 - 28598553 Apr 26, 2021 (155)
61 UK 10K study - Twins NC_000013.10 - 29172690 Oct 12, 2018 (152)
62 A Vietnamese Genetic Variation Database NC_000013.10 - 29172690 Jul 13, 2019 (153)
63 ALFA NC_000013.11 - 28598553 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
ss114466605, ss169070995, ss208628307, ss281652962, ss291564784, ss1642332787 NC_000013.9:28070689:C:T NC_000013.11:28598552:C:T (self)
60467392, 33583588, 23773052, 3234361, 14984700, 35659339, 12897198, 15639104, 31677483, 8435334, 67285379, 33583588, 7449483, ss226099128, ss236190462, ss242697975, ss563571464, ss659167251, ss990228218, ss1078963538, ss1347618996, ss1427140428, ss1576694863, ss1629956779, ss1672950812, ss1933597174, ss1967743314, ss2027554229, ss2155918980, ss2359201339, ss2700291114, ss2917942276, ss3010774093, ss3350381873, ss3678034804, ss3739612333, ss3751275642, ss3833466829, ss3879660503, ss3928481945, ss5209316072 NC_000013.10:29172689:C:T NC_000013.11:28598552:C:T (self)
426381627, 955094, 29646028, 97888047, 156537353, 2851350311, ss2195101230, ss3027592649, ss3188778055, ss3694991235, ss3816606667, ss3973268027, ss4940991695 NC_000013.11:28598552:C:T NC_000013.11:28598552:C:T (self)
ss11089430, ss13254271 NT_009799.12:10152689:C:T NC_000013.11:28598552:C:T (self)
ss16610256 NT_024524.13:10152689:C:T NC_000013.11:28598552:C:T (self)
ss161585213 NT_024524.14:10152689:C:T NC_000013.11:28598552:C:T (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 rs7334162

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