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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.

rs7329410

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:28650071 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.421497 (111566/264690, TOPMED)
A=0.411108 (57519/139912, GnomAD)
A=0.30880 (20085/65042, ALFA) (+ 17 more)
A=0.49857 (8356/16760, 8.3KJPN)
A=0.4784 (2396/5008, 1000G)
A=0.3815 (1709/4480, Estonian)
A=0.3106 (1197/3854, ALSPAC)
A=0.3190 (1183/3708, TWINSUK)
A=0.4874 (1428/2930, KOREAN)
A=0.4491 (936/2084, HGDP_Stanford)
A=0.4789 (906/1892, HapMap)
A=0.4831 (885/1832, Korea1K)
A=0.329 (328/998, GoNL)
A=0.375 (225/600, NorthernSweden)
G=0.269 (100/372, SGDP_PRJ)
A=0.361 (78/216, Qatari)
G=0.430 (92/214, Vietnamese)
A=0.13 (8/60, Ancient Sardinia)
A=0.38 (15/40, GENOME_DK)
G=0.31 (11/36, 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 13 NC_000013.11:g.28650071G>A
GRCh38.p13 chr 13 NC_000013.11:g.28650071G>T
GRCh37.p13 chr 13 NC_000013.10:g.29224208G>A
GRCh37.p13 chr 13 NC_000013.10:g.29224208G>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 65042 G=0.69120 A=0.30880, T=0.00000
European Sub 55184 G=0.70694 A=0.29306, T=0.00000
African Sub 2750 G=0.5498 A=0.4502, T=0.0000
African Others Sub 100 G=0.56 A=0.44, T=0.00
African American Sub 2650 G=0.5494 A=0.4506, T=0.0000
Asian Sub 118 G=0.669 A=0.331, T=0.000
East Asian Sub 96 G=0.68 A=0.32, T=0.00
Other Asian Sub 22 G=0.64 A=0.36, T=0.00
Latin American 1 Sub 172 G=0.791 A=0.209, T=0.000
Latin American 2 Sub 764 G=0.606 A=0.394, T=0.000
South Asian Sub 4886 G=0.6103 A=0.3897, T=0.0000
Other Sub 1168 G=0.6618 A=0.3382, T=0.0000


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 G=0.578503 A=0.421497
gnomAD - Genomes Global Study-wide 139912 G=0.588892 A=0.411108
gnomAD - Genomes European Sub 75796 G=0.67246 A=0.32754
gnomAD - Genomes African Sub 41906 G=0.44158 A=0.55842
gnomAD - Genomes American Sub 13632 G=0.54981 A=0.45019
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.7760 A=0.2240
gnomAD - Genomes East Asian Sub 3116 G=0.5039 A=0.4961
gnomAD - Genomes Other Sub 2140 G=0.5958 A=0.4042
Allele Frequency Aggregator Total Global 65042 G=0.69120 A=0.30880, T=0.00000
Allele Frequency Aggregator European Sub 55184 G=0.70694 A=0.29306, T=0.00000
Allele Frequency Aggregator South Asian Sub 4886 G=0.6103 A=0.3897, T=0.0000
Allele Frequency Aggregator African Sub 2750 G=0.5498 A=0.4502, T=0.0000
Allele Frequency Aggregator Other Sub 1168 G=0.6618 A=0.3382, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 764 G=0.606 A=0.394, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 172 G=0.791 A=0.209, T=0.000
Allele Frequency Aggregator Asian Sub 118 G=0.669 A=0.331, T=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.50143 A=0.49857
1000Genomes Global Study-wide 5008 G=0.5216 A=0.4784
1000Genomes African Sub 1322 G=0.3941 A=0.6059
1000Genomes East Asian Sub 1008 G=0.4921 A=0.5079
1000Genomes Europe Sub 1006 G=0.6968 A=0.3032
1000Genomes South Asian Sub 978 G=0.555 A=0.445
1000Genomes American Sub 694 G=0.506 A=0.494
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6185 A=0.3815
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6894 A=0.3106
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6810 A=0.3190
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.5126 A=0.4874
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.5509 A=0.4491
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.513 A=0.487
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.640 A=0.360
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.723 A=0.277
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.750 A=0.250
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.413 A=0.587
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.134 A=0.866
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.28 A=0.72
HapMap Global Study-wide 1892 G=0.5211 A=0.4789
HapMap American Sub 770 G=0.564 A=0.436
HapMap African Sub 692 G=0.413 A=0.587
HapMap Asian Sub 254 G=0.516 A=0.484
HapMap Europe Sub 176 G=0.767 A=0.233
Korean Genome Project KOREAN Study-wide 1832 G=0.5169 A=0.4831
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.671 A=0.329
Northern Sweden ACPOP Study-wide 600 G=0.625 A=0.375
SGDP_PRJ Global Study-wide 372 G=0.269 A=0.731
Qatari Global Study-wide 216 G=0.639 A=0.361
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.430 A=0.570
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 60 G=0.87 A=0.13
The Danish reference pan genome Danish Study-wide 40 G=0.62 A=0.38
Siberian Global Study-wide 36 G=0.31 A=0.69
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 T
GRCh38.p13 chr 13 NC_000013.11:g.28650071= NC_000013.11:g.28650071G>A NC_000013.11:g.28650071G>T
GRCh37.p13 chr 13 NC_000013.10:g.29224208= NC_000013.10:g.29224208G>A NC_000013.10:g.29224208G>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#.

78 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss11080508 Jul 11, 2003 (116)
2 SC_SNP ss13254285 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss19279490 Feb 27, 2004 (120)
4 SSAHASNP ss21135235 Apr 05, 2004 (121)
5 PERLEGEN ss24023139 Sep 20, 2004 (123)
6 ABI ss43492533 Mar 14, 2006 (126)
7 ILLUMINA ss67570501 Dec 01, 2006 (127)
8 ILLUMINA ss67950686 Dec 01, 2006 (127)
9 ILLUMINA ss68275993 Dec 12, 2006 (127)
10 PERLEGEN ss69129449 May 18, 2007 (127)
11 ILLUMINA ss70923807 May 24, 2008 (130)
12 ILLUMINA ss71524305 May 18, 2007 (127)
13 ILLUMINA ss75763558 Dec 07, 2007 (129)
14 HGSV ss82047461 Dec 15, 2007 (130)
15 KRIBB_YJKIM ss84658413 Dec 15, 2007 (130)
16 HUMANGENOME_JCVI ss96954767 Feb 05, 2009 (130)
17 ENSEMBL ss137273877 Dec 01, 2009 (131)
18 ILLUMINA ss154420710 Dec 01, 2009 (131)
19 ILLUMINA ss159595823 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss167792011 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss170932366 Jul 04, 2010 (132)
22 ILLUMINA ss174344755 Jul 04, 2010 (132)
23 BUSHMAN ss199013520 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss208659148 Jul 04, 2010 (132)
25 1000GENOMES ss211380120 Jul 14, 2010 (132)
26 1000GENOMES ss226099398 Jul 14, 2010 (132)
27 1000GENOMES ss236190638 Jul 15, 2010 (132)
28 1000GENOMES ss242698134 Jul 15, 2010 (132)
29 GMI ss281653161 May 04, 2012 (137)
30 PJP ss291564907 May 09, 2011 (134)
31 ILLUMINA ss537465192 Sep 08, 2015 (146)
32 TISHKOFF ss563571742 Apr 25, 2013 (138)
33 SSMP ss659167538 Apr 25, 2013 (138)
34 ILLUMINA ss833106838 Jul 13, 2019 (153)
35 EVA-GONL ss990228619 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1078963874 Aug 21, 2014 (142)
37 1000GENOMES ss1347620543 Aug 21, 2014 (142)
38 DDI ss1427140602 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1576695195 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1629957612 Apr 01, 2015 (144)
41 EVA_DECODE ss1642333175 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1672951645 Apr 01, 2015 (144)
43 EVA_SVP ss1713378476 Apr 01, 2015 (144)
44 HAMMER_LAB ss1807541887 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1933597603 Feb 12, 2016 (147)
46 GENOMED ss1967743441 Jul 19, 2016 (147)
47 JJLAB ss2027554497 Sep 14, 2016 (149)
48 USC_VALOUEV ss2155919208 Dec 20, 2016 (150)
49 HUMAN_LONGEVITY ss2195104241 Dec 20, 2016 (150)
50 TOPMED ss2359204334 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2628265384 Nov 08, 2017 (151)
52 GRF ss2700291393 Nov 08, 2017 (151)
53 GNOMAD ss2917946358 Nov 08, 2017 (151)
54 SWEGEN ss3010774673 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3027592787 Nov 08, 2017 (151)
56 TOPMED ss3188787291 Nov 08, 2017 (151)
57 CSHL ss3350382069 Nov 08, 2017 (151)
58 ILLUMINA ss3627029724 Oct 12, 2018 (152)
59 ILLUMINA ss3638002203 Oct 12, 2018 (152)
60 ILLUMINA ss3639014024 Oct 12, 2018 (152)
61 ILLUMINA ss3639817054 Oct 12, 2018 (152)
62 ILLUMINA ss3642992732 Oct 12, 2018 (152)
63 ILLUMINA ss3643868150 Oct 12, 2018 (152)
64 URBANLAB ss3649996559 Oct 12, 2018 (152)
65 EGCUT_WGS ss3678035355 Jul 13, 2019 (153)
66 EVA_DECODE ss3694992008 Jul 13, 2019 (153)
67 ACPOP ss3739612709 Jul 13, 2019 (153)
68 EVA ss3751276131 Jul 13, 2019 (153)
69 KHV_HUMAN_GENOMES ss3816607153 Jul 13, 2019 (153)
70 EVA ss3833467062 Apr 27, 2020 (154)
71 HGDP ss3847473146 Apr 27, 2020 (154)
72 SGDP_PRJ ss3879661278 Apr 27, 2020 (154)
73 KRGDB ss3928482756 Apr 27, 2020 (154)
74 KOGIC ss3973268729 Apr 27, 2020 (154)
75 EVA ss3985630942 Apr 26, 2021 (155)
76 EVA ss4017624485 Apr 26, 2021 (155)
77 TOPMED ss4941004312 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5209317680 Apr 26, 2021 (155)
79 1000Genomes NC_000013.10 - 29224208 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 29224208 Oct 12, 2018 (152)
81 Genetic variation in the Estonian population NC_000013.10 - 29224208 Oct 12, 2018 (152)
82 The Danish reference pan genome NC_000013.10 - 29224208 Apr 27, 2020 (154)
83 gnomAD - Genomes NC_000013.11 - 28650071 Apr 26, 2021 (155)
84 Genome of the Netherlands Release 5 NC_000013.10 - 29224208 Apr 27, 2020 (154)
85 HGDP-CEPH-db Supplement 1 NC_000013.9 - 28122208 Apr 27, 2020 (154)
86 HapMap NC_000013.11 - 28650071 Apr 27, 2020 (154)
87 KOREAN population from KRGDB NC_000013.10 - 29224208 Apr 27, 2020 (154)
88 Korean Genome Project NC_000013.11 - 28650071 Apr 27, 2020 (154)
89 Northern Sweden NC_000013.10 - 29224208 Jul 13, 2019 (153)
90 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 29224208 Apr 26, 2021 (155)
91 Qatari NC_000013.10 - 29224208 Apr 27, 2020 (154)
92 SGDP_PRJ NC_000013.10 - 29224208 Apr 27, 2020 (154)
93 Siberian NC_000013.10 - 29224208 Apr 27, 2020 (154)
94 8.3KJPN NC_000013.10 - 29224208 Apr 26, 2021 (155)
95 TopMed NC_000013.11 - 28650071 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000013.10 - 29224208 Oct 12, 2018 (152)
97 A Vietnamese Genetic Variation Database NC_000013.10 - 29224208 Jul 13, 2019 (153)
98 ALFA NC_000013.11 - 28650071 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)
rs58558297 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
151038, ss82047461, ss167792011, ss170932366, ss199013520, ss208659148, ss211380120, ss281653161, ss291564907, ss1642333175, ss1713378476, ss3639014024, ss3639817054, ss3642992732, ss3643868150, ss3847473146 NC_000013.9:28122207:G:A NC_000013.11:28650070:G:A (self)
60468997, 33584509, 23773603, 3234562, 14985087, 35660150, 12897574, 856869, 15639533, 31678258, 8435562, 67286987, 33584509, 7449725, ss226099398, ss236190638, ss242698134, ss537465192, ss563571742, ss659167538, ss833106838, ss990228619, ss1078963874, ss1347620543, ss1427140602, ss1576695195, ss1629957612, ss1672951645, ss1807541887, ss1933597603, ss1967743441, ss2027554497, ss2155919208, ss2359204334, ss2628265384, ss2700291393, ss2917946358, ss3010774673, ss3350382069, ss3627029724, ss3638002203, ss3678035355, ss3739612709, ss3751276131, ss3833467062, ss3879661278, ss3928482756, ss3985630942, ss4017624485, ss5209317680 NC_000013.10:29224207:G:A NC_000013.11:28650070:G:A (self)
426391776, 955222, 29646730, 97896009, 156549970, 1810753111, ss2195104241, ss3027592787, ss3188787291, ss3649996559, ss3694992008, ss3816607153, ss3973268729, ss4941004312 NC_000013.11:28650070:G:A NC_000013.11:28650070:G:A (self)
ss11080508, ss13254285 NT_009799.12:10204207:G:A NC_000013.11:28650070:G:A (self)
ss19279490, ss21135235 NT_024524.13:10204207:G:A NC_000013.11:28650070:G:A (self)
ss24023139, ss43492533, ss67570501, ss67950686, ss68275993, ss69129449, ss70923807, ss71524305, ss75763558, ss84658413, ss96954767, ss137273877, ss154420710, ss159595823, ss174344755 NT_024524.14:10204207:G:A NC_000013.11:28650070:G:A (self)
1810753111 NC_000013.11:28650070:G:T NC_000013.11:28650070:G:T
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 rs7329410

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