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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.

rs1318428

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:15029602 (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
T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.182931 (48420/264690, TOPMED)
G=0.181859 (25401/139674, GnomAD)
G=0.17664 (4991/28256, 14KJPN) (+ 16 more)
G=0.16739 (3162/18890, ALFA)
G=0.17689 (2964/16756, 8.3KJPN)
G=0.1727 (1106/6404, 1000G_30x)
G=0.1733 (868/5008, 1000G)
G=0.1348 (604/4480, Estonian)
G=0.1694 (653/3854, ALSPAC)
G=0.1802 (668/3708, TWINSUK)
G=0.1945 (570/2930, KOREAN)
G=0.2096 (384/1832, Korea1K)
G=0.192 (115/600, NorthernSweden)
G=0.199 (65/326, HapMap)
G=0.130 (28/216, Qatari)
G=0.088 (19/216, Vietnamese)
T=0.475 (97/204, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
T=0.29 (7/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
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 18890 T=0.83261 G=0.16739
European Sub 14286 T=0.84089 G=0.15911
African Sub 2946 T=0.7882 G=0.2118
African Others Sub 114 T=0.746 G=0.254
African American Sub 2832 T=0.7899 G=0.2101
Asian Sub 112 T=0.866 G=0.134
East Asian Sub 86 T=0.90 G=0.10
Other Asian Sub 26 T=0.77 G=0.23
Latin American 1 Sub 146 T=0.849 G=0.151
Latin American 2 Sub 610 T=0.857 G=0.143
South Asian Sub 98 T=0.85 G=0.15
Other Sub 692 T=0.818 G=0.182


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 T=0.817069 G=0.182931
gnomAD - Genomes Global Study-wide 139674 T=0.818141 G=0.181859
gnomAD - Genomes European Sub 75610 T=0.83347 G=0.16653
gnomAD - Genomes African Sub 41898 T=0.77541 G=0.22459
gnomAD - Genomes American Sub 13580 T=0.84713 G=0.15287
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.8798 G=0.1202
gnomAD - Genomes East Asian Sub 3122 T=0.8283 G=0.1717
gnomAD - Genomes Other Sub 2144 T=0.8186 G=0.1814
14KJPN JAPANESE Study-wide 28256 T=0.82336 G=0.17664
Allele Frequency Aggregator Total Global 18890 T=0.83261 G=0.16739
Allele Frequency Aggregator European Sub 14286 T=0.84089 G=0.15911
Allele Frequency Aggregator African Sub 2946 T=0.7882 G=0.2118
Allele Frequency Aggregator Other Sub 692 T=0.818 G=0.182
Allele Frequency Aggregator Latin American 2 Sub 610 T=0.857 G=0.143
Allele Frequency Aggregator Latin American 1 Sub 146 T=0.849 G=0.151
Allele Frequency Aggregator Asian Sub 112 T=0.866 G=0.134
Allele Frequency Aggregator South Asian Sub 98 T=0.85 G=0.15
8.3KJPN JAPANESE Study-wide 16756 T=0.82311 G=0.17689
1000Genomes_30x Global Study-wide 6404 T=0.8273 G=0.1727
1000Genomes_30x African Sub 1786 T=0.7654 G=0.2346
1000Genomes_30x Europe Sub 1266 T=0.8555 G=0.1445
1000Genomes_30x South Asian Sub 1202 T=0.8411 G=0.1589
1000Genomes_30x East Asian Sub 1170 T=0.8410 G=0.1590
1000Genomes_30x American Sub 980 T=0.870 G=0.130
1000Genomes Global Study-wide 5008 T=0.8267 G=0.1733
1000Genomes African Sub 1322 T=0.7708 G=0.2292
1000Genomes East Asian Sub 1008 T=0.8393 G=0.1607
1000Genomes Europe Sub 1006 T=0.8499 G=0.1501
1000Genomes South Asian Sub 978 T=0.837 G=0.163
1000Genomes American Sub 694 T=0.866 G=0.134
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8652 G=0.1348
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8306 G=0.1694
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8198 G=0.1802
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8055 G=0.1945
Korean Genome Project KOREAN Study-wide 1832 T=0.7904 G=0.2096
Northern Sweden ACPOP Study-wide 600 T=0.808 G=0.192
HapMap Global Study-wide 326 T=0.801 G=0.199
HapMap African Sub 120 T=0.725 G=0.275
HapMap American Sub 118 T=0.856 G=0.144
HapMap Asian Sub 88 T=0.83 G=0.17
Qatari Global Study-wide 216 T=0.870 G=0.130
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.912 G=0.088
SGDP_PRJ Global Study-wide 204 T=0.475 G=0.525
The Danish reference pan genome Danish Study-wide 40 T=0.85 G=0.15
Siberian Global Study-wide 24 T=0.29 G=0.71
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 7 NC_000007.14:g.15029602T>G
GRCh37.p13 chr 7 NC_000007.13:g.15069227T>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
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 T= G
GRCh38.p14 chr 7 NC_000007.14:g.15029602= NC_000007.14:g.15029602T>G
GRCh37.p13 chr 7 NC_000007.13:g.15069227= NC_000007.13:g.15069227T>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#.

60 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2086165 Oct 23, 2000 (88)
2 PERLEGEN ss23421237 Sep 20, 2004 (123)
3 ABI ss44779010 Mar 14, 2006 (126)
4 PERLEGEN ss69006275 May 18, 2007 (127)
5 HGSV ss85811577 Dec 15, 2007 (130)
6 BCMHGSC_JDW ss93633867 Mar 24, 2008 (129)
7 BGI ss104401819 Dec 01, 2009 (131)
8 ILLUMINA-UK ss115948002 Feb 14, 2009 (130)
9 BUSHMAN ss202989493 Jul 04, 2010 (132)
10 1000GENOMES ss222923275 Jul 14, 2010 (132)
11 1000GENOMES ss233861499 Jul 15, 2010 (132)
12 1000GENOMES ss240839003 Jul 15, 2010 (132)
13 GMI ss279197050 May 04, 2012 (137)
14 PJP ss294017571 May 09, 2011 (134)
15 ILLUMINA ss410872849 Sep 17, 2011 (135)
16 SSMP ss654173341 Apr 25, 2013 (138)
17 EVA-GONL ss983977637 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1074384219 Aug 21, 2014 (142)
19 1000GENOMES ss1324027951 Aug 21, 2014 (142)
20 DDI ss1431037444 Apr 01, 2015 (144)
21 EVA_GENOME_DK ss1582083237 Apr 01, 2015 (144)
22 EVA_DECODE ss1593543365 Apr 01, 2015 (144)
23 EVA_UK10K_ALSPAC ss1617623748 Apr 01, 2015 (144)
24 EVA_UK10K_TWINSUK ss1660617781 Apr 01, 2015 (144)
25 HAMMER_LAB ss1804880332 Sep 08, 2015 (146)
26 WEILL_CORNELL_DGM ss1927224041 Feb 12, 2016 (147)
27 JJLAB ss2024285649 Sep 14, 2016 (149)
28 USC_VALOUEV ss2152483184 Dec 20, 2016 (150)
29 HUMAN_LONGEVITY ss2291865378 Dec 20, 2016 (150)
30 SYSTEMSBIOZJU ss2626632244 Nov 08, 2017 (151)
31 GRF ss2708134891 Nov 08, 2017 (151)
32 GNOMAD ss2850036378 Nov 08, 2017 (151)
33 SWEGEN ss3000668754 Nov 08, 2017 (151)
34 BIOINF_KMB_FNS_UNIBA ss3025937129 Nov 08, 2017 (151)
35 CSHL ss3347450607 Nov 08, 2017 (151)
36 EGCUT_WGS ss3668589973 Jul 13, 2019 (153)
37 EVA_DECODE ss3719150828 Jul 13, 2019 (153)
38 ACPOP ss3734381702 Jul 13, 2019 (153)
39 EVA ss3766218252 Jul 13, 2019 (153)
40 PACBIO ss3785741261 Jul 13, 2019 (153)
41 PACBIO ss3791054660 Jul 13, 2019 (153)
42 PACBIO ss3795934367 Jul 13, 2019 (153)
43 KHV_HUMAN_GENOMES ss3809385942 Jul 13, 2019 (153)
44 EVA ss3830429152 Apr 26, 2020 (154)
45 SGDP_PRJ ss3866685350 Apr 26, 2020 (154)
46 KRGDB ss3913711560 Apr 26, 2020 (154)
47 KOGIC ss3960930700 Apr 26, 2020 (154)
48 TOPMED ss4736408518 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5181918659 Apr 26, 2021 (155)
50 1000G_HIGH_COVERAGE ss5271915432 Oct 13, 2022 (156)
51 HUGCELL_USP ss5469190897 Oct 13, 2022 (156)
52 EVA ss5508857547 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5559601192 Oct 13, 2022 (156)
54 SANFORD_IMAGENETICS ss5642397904 Oct 13, 2022 (156)
55 TOMMO_GENOMICS ss5721402136 Oct 13, 2022 (156)
56 YY_MCH ss5808356900 Oct 13, 2022 (156)
57 EVA ss5822444046 Oct 13, 2022 (156)
58 EVA ss5855774325 Oct 13, 2022 (156)
59 EVA ss5857803218 Oct 13, 2022 (156)
60 EVA ss5971588411 Oct 13, 2022 (156)
61 1000Genomes NC_000007.13 - 15069227 Oct 12, 2018 (152)
62 1000Genomes_30x NC_000007.14 - 15029602 Oct 13, 2022 (156)
63 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 15069227 Oct 12, 2018 (152)
64 Genetic variation in the Estonian population NC_000007.13 - 15069227 Oct 12, 2018 (152)
65 The Danish reference pan genome NC_000007.13 - 15069227 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000007.14 - 15029602 Apr 26, 2021 (155)
67 HapMap NC_000007.14 - 15029602 Apr 26, 2020 (154)
68 KOREAN population from KRGDB NC_000007.13 - 15069227 Apr 26, 2020 (154)
69 Korean Genome Project NC_000007.14 - 15029602 Apr 26, 2020 (154)
70 Northern Sweden NC_000007.13 - 15069227 Jul 13, 2019 (153)
71 Qatari NC_000007.13 - 15069227 Apr 26, 2020 (154)
72 SGDP_PRJ NC_000007.13 - 15069227 Apr 26, 2020 (154)
73 Siberian NC_000007.13 - 15069227 Apr 26, 2020 (154)
74 8.3KJPN NC_000007.13 - 15069227 Apr 26, 2021 (155)
75 14KJPN NC_000007.14 - 15029602 Oct 13, 2022 (156)
76 TopMed NC_000007.14 - 15029602 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000007.13 - 15069227 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000007.13 - 15069227 Jul 13, 2019 (153)
79 ALFA NC_000007.14 - 15029602 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)
rs58294068 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85811577 NC_000007.11:14842466:T:G NC_000007.14:15029601:T:G (self)
ss93633867, ss115948002, ss202989493, ss279197050, ss294017571, ss410872849, ss1593543365 NC_000007.12:15035751:T:G NC_000007.14:15029601:T:G (self)
35959347, 20044389, 14328221, 8248176, 20888954, 7666567, 9265971, 18702330, 4999538, 39887966, 20044389, 4464704, ss222923275, ss233861499, ss240839003, ss654173341, ss983977637, ss1074384219, ss1324027951, ss1431037444, ss1582083237, ss1617623748, ss1660617781, ss1804880332, ss1927224041, ss2024285649, ss2152483184, ss2626632244, ss2708134891, ss2850036378, ss3000668754, ss3347450607, ss3668589973, ss3734381702, ss3766218252, ss3785741261, ss3791054660, ss3795934367, ss3830429152, ss3866685350, ss3913711560, ss5181918659, ss5508857547, ss5642397904, ss5822444046, ss5971588411 NC_000007.13:15069226:T:G NC_000007.14:15029601:T:G (self)
47127127, 253580620, 3341201, 17308701, 55239240, 573786077, 11808073212, ss2291865378, ss3025937129, ss3719150828, ss3809385942, ss3960930700, ss4736408518, ss5271915432, ss5469190897, ss5559601192, ss5721402136, ss5808356900, ss5855774325, ss5857803218 NC_000007.14:15029601:T:G NC_000007.14:15029601:T:G (self)
ss2086165, ss23421237, ss44779010, ss69006275, ss104401819 NT_007819.17:15059226:T:G NC_000007.14:15029601:T: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 rs1318428

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