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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.

rs415155

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:28922968 (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
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.452582 (119794/264690, TOPMED)
A=0.448513 (62564/139492, GnomAD)
G=0.34224 (9671/28258, 14KJPN) (+ 16 more)
A=0.44895 (8118/18082, ALFA)
G=0.34063 (5709/16760, 8.3KJPN)
G=0.4839 (3099/6404, 1000G_30x)
G=0.4764 (2386/5008, 1000G)
A=0.4837 (2167/4480, Estonian)
A=0.4639 (1788/3854, ALSPAC)
A=0.4444 (1648/3708, TWINSUK)
G=0.2809 (823/2930, KOREAN)
G=0.2778 (509/1832, Korea1K)
A=0.478 (477/998, GoNL)
A=0.467 (280/600, NorthernSweden)
G=0.282 (132/468, SGDP_PRJ)
A=0.431 (93/216, Qatari)
G=0.285 (61/214, Vietnamese)
G=0.36 (18/50, Siberian)
G=0.30 (12/40, GENOME_DK)
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 18082 G=0.55105 A=0.44895, T=0.00000
European Sub 13836 G=0.54604 A=0.45396, T=0.00000
African Sub 2590 G=0.5938 A=0.4062, T=0.0000
African Others Sub 102 G=0.608 A=0.392, T=0.000
African American Sub 2488 G=0.5932 A=0.4068, T=0.0000
Asian Sub 112 G=0.286 A=0.714, T=0.000
East Asian Sub 86 G=0.26 A=0.74, T=0.00
Other Asian Sub 26 G=0.38 A=0.62, T=0.00
Latin American 1 Sub 146 G=0.534 A=0.466, T=0.000
Latin American 2 Sub 610 G=0.577 A=0.423, T=0.000
South Asian Sub 98 G=0.38 A=0.62, T=0.00
Other Sub 690 G=0.539 A=0.461, T=0.000


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=0.547418 A=0.452582
gnomAD - Genomes Global Study-wide 139492 G=0.551487 A=0.448513
gnomAD - Genomes European Sub 75524 G=0.54579 A=0.45421
gnomAD - Genomes African Sub 41812 G=0.57077 A=0.42923
gnomAD - Genomes American Sub 13574 G=0.58995 A=0.41005
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.5175 A=0.4825
gnomAD - Genomes East Asian Sub 3114 G=0.3086 A=0.6914
gnomAD - Genomes Other Sub 2146 G=0.5382 A=0.4618
14KJPN JAPANESE Study-wide 28258 G=0.34224 A=0.65776
Allele Frequency Aggregator Total Global 18082 G=0.55105 A=0.44895, T=0.00000
Allele Frequency Aggregator European Sub 13836 G=0.54604 A=0.45396, T=0.00000
Allele Frequency Aggregator African Sub 2590 G=0.5938 A=0.4062, T=0.0000
Allele Frequency Aggregator Other Sub 690 G=0.539 A=0.461, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.577 A=0.423, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.534 A=0.466, T=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.286 A=0.714, T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.38 A=0.62, T=0.00
8.3KJPN JAPANESE Study-wide 16760 G=0.34063 A=0.65937
1000Genomes_30x Global Study-wide 6404 G=0.4839 A=0.5161
1000Genomes_30x African Sub 1786 G=0.5470 A=0.4530
1000Genomes_30x Europe Sub 1266 G=0.5569 A=0.4431
1000Genomes_30x South Asian Sub 1202 G=0.3985 A=0.6015
1000Genomes_30x East Asian Sub 1170 G=0.2829 A=0.7171
1000Genomes_30x American Sub 980 G=0.619 A=0.381
1000Genomes Global Study-wide 5008 G=0.4764 A=0.5236
1000Genomes African Sub 1322 G=0.5416 A=0.4584
1000Genomes East Asian Sub 1008 G=0.2857 A=0.7143
1000Genomes Europe Sub 1006 G=0.5586 A=0.4414
1000Genomes South Asian Sub 978 G=0.404 A=0.596
1000Genomes American Sub 694 G=0.612 A=0.388
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5163 A=0.4837
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5361 A=0.4639
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5556 A=0.4444
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2809 A=0.7191, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.2778 A=0.7222
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.522 A=0.478
Northern Sweden ACPOP Study-wide 600 G=0.533 A=0.467
SGDP_PRJ Global Study-wide 468 G=0.282 A=0.718
Qatari Global Study-wide 216 G=0.569 A=0.431
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.285 A=0.715
Siberian Global Study-wide 50 G=0.36 A=0.64
The Danish reference pan genome Danish Study-wide 40 G=0.30 A=0.70
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 5 NC_000005.10:g.28922968G>A
GRCh38.p14 chr 5 NC_000005.10:g.28922968G>T
GRCh37.p13 chr 5 NC_000005.9:g.28923075G>A
GRCh37.p13 chr 5 NC_000005.9:g.28923075G>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
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.p14 chr 5 NC_000005.10:g.28922968= NC_000005.10:g.28922968G>A NC_000005.10:g.28922968G>T
GRCh37.p13 chr 5 NC_000005.9:g.28923075= NC_000005.9:g.28923075G>A NC_000005.9:g.28923075G>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#.

67 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss545708 Jul 16, 2000 (80)
2 CSHL-HAPMAP ss17047637 Feb 28, 2004 (123)
3 SSAHASNP ss22218007 Apr 05, 2004 (123)
4 ABI ss42450822 Mar 15, 2006 (126)
5 HUMANGENOME_JCVI ss98606743 Feb 06, 2009 (130)
6 BGI ss105915766 Feb 06, 2009 (130)
7 1000GENOMES ss108909503 Jan 23, 2009 (130)
8 1000GENOMES ss111610170 Jan 25, 2009 (130)
9 ILLUMINA-UK ss116537253 Feb 14, 2009 (130)
10 ENSEMBL ss139989131 Dec 01, 2009 (131)
11 GMI ss155221600 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss164558556 Jul 04, 2010 (132)
13 BUSHMAN ss200044944 Jul 04, 2010 (132)
14 1000GENOMES ss221592501 Jul 14, 2010 (132)
15 1000GENOMES ss232881266 Jul 14, 2010 (132)
16 1000GENOMES ss240068332 Jul 15, 2010 (132)
17 BL ss253324515 May 09, 2011 (134)
18 GMI ss278222417 May 04, 2012 (137)
19 PJP ss293556231 May 09, 2011 (134)
20 TISHKOFF ss558288295 Apr 25, 2013 (138)
21 SSMP ss652139860 Apr 25, 2013 (138)
22 EVA-GONL ss981389314 Aug 21, 2014 (142)
23 JMKIDD_LAB ss1072497749 Aug 21, 2014 (142)
24 1000GENOMES ss1314432851 Aug 21, 2014 (142)
25 DDI ss1430289506 Apr 01, 2015 (144)
26 EVA_GENOME_DK ss1581068461 Apr 01, 2015 (144)
27 EVA_DECODE ss1590910232 Apr 01, 2015 (144)
28 EVA_UK10K_ALSPAC ss1612548907 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1655542940 Apr 01, 2015 (144)
30 HAMMER_LAB ss1803271188 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1924650614 Feb 12, 2016 (147)
32 GENOMED ss1970048049 Jul 19, 2016 (147)
33 JJLAB ss2022926478 Sep 14, 2016 (149)
34 USC_VALOUEV ss2151075199 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2272453282 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2625962621 Nov 08, 2017 (151)
37 GRF ss2706609221 Nov 08, 2017 (151)
38 GNOMAD ss2822665560 Nov 08, 2017 (151)
39 SWEGEN ss2996652571 Nov 08, 2017 (151)
40 BIOINF_KMB_FNS_UNIBA ss3025247367 Nov 08, 2017 (151)
41 CSHL ss3346308030 Nov 08, 2017 (151)
42 URBANLAB ss3648018580 Oct 12, 2018 (152)
43 EGCUT_WGS ss3664545235 Jul 13, 2019 (153)
44 EVA_DECODE ss3714366217 Jul 13, 2019 (153)
45 ACPOP ss3732209091 Jul 13, 2019 (153)
46 EVA ss3763227979 Jul 13, 2019 (153)
47 PACBIO ss3785064915 Jul 13, 2019 (153)
48 PACBIO ss3790478386 Jul 13, 2019 (153)
49 PACBIO ss3795354819 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3806401854 Jul 13, 2019 (153)
51 EVA ss3829162808 Apr 26, 2020 (154)
52 SGDP_PRJ ss3861501544 Apr 26, 2020 (154)
53 KRGDB ss3907964073 Apr 26, 2020 (154)
54 KOGIC ss3956334111 Apr 26, 2020 (154)
55 TOPMED ss4654176278 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5170979490 Apr 26, 2021 (155)
57 1000G_HIGH_COVERAGE ss5263350233 Oct 13, 2022 (156)
58 HUGCELL_USP ss5461643422 Oct 13, 2022 (156)
59 EVA ss5507960003 Oct 13, 2022 (156)
60 1000G_HIGH_COVERAGE ss5546663899 Oct 13, 2022 (156)
61 SANFORD_IMAGENETICS ss5637463374 Oct 13, 2022 (156)
62 TOMMO_GENOMICS ss5706816561 Oct 13, 2022 (156)
63 YY_MCH ss5806138582 Oct 13, 2022 (156)
64 EVA ss5834705017 Oct 13, 2022 (156)
65 EVA ss5854743430 Oct 13, 2022 (156)
66 EVA ss5893521836 Oct 13, 2022 (156)
67 EVA ss5965878968 Oct 13, 2022 (156)
68 1000Genomes NC_000005.9 - 28923075 Oct 12, 2018 (152)
69 1000Genomes_30x NC_000005.10 - 28922968 Oct 13, 2022 (156)
70 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 28923075 Oct 12, 2018 (152)
71 Genetic variation in the Estonian population NC_000005.9 - 28923075 Oct 12, 2018 (152)
72 The Danish reference pan genome NC_000005.9 - 28923075 Apr 26, 2020 (154)
73 gnomAD - Genomes NC_000005.10 - 28922968 Apr 26, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000005.9 - 28923075 Apr 26, 2020 (154)
75 KOREAN population from KRGDB NC_000005.9 - 28923075 Apr 26, 2020 (154)
76 Korean Genome Project NC_000005.10 - 28922968 Apr 26, 2020 (154)
77 Northern Sweden NC_000005.9 - 28923075 Jul 13, 2019 (153)
78 Qatari NC_000005.9 - 28923075 Apr 26, 2020 (154)
79 SGDP_PRJ NC_000005.9 - 28923075 Apr 26, 2020 (154)
80 Siberian NC_000005.9 - 28923075 Apr 26, 2020 (154)
81 8.3KJPN NC_000005.9 - 28923075 Apr 26, 2021 (155)
82 14KJPN NC_000005.10 - 28922968 Oct 13, 2022 (156)
83 TopMed NC_000005.10 - 28922968 Apr 26, 2021 (155)
84 UK 10K study - Twins NC_000005.9 - 28923075 Oct 12, 2018 (152)
85 A Vietnamese Genetic Variation Database NC_000005.9 - 28923075 Jul 13, 2019 (153)
86 ALFA NC_000005.10 - 28922968 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)
rs11737904 Oct 08, 2004 (123)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss108909503, ss111610170, ss116537253, ss164558556, ss200044944, ss253324515, ss278222417, ss293556231, ss1590910232 NC_000005.8:28958831:G:A NC_000005.10:28922967:G:A (self)
26009087, 14468008, 10283483, 7233400, 6426644, 15141467, 5493956, 6692544, 13518524, 3591553, 28948797, 14468008, 3213647, ss221592501, ss232881266, ss240068332, ss558288295, ss652139860, ss981389314, ss1072497749, ss1314432851, ss1430289506, ss1581068461, ss1612548907, ss1655542940, ss1803271188, ss1924650614, ss1970048049, ss2022926478, ss2151075199, ss2625962621, ss2706609221, ss2822665560, ss2996652571, ss3346308030, ss3664545235, ss3732209091, ss3763227979, ss3785064915, ss3790478386, ss3795354819, ss3829162808, ss3861501544, ss3907964073, ss5170979490, ss5507960003, ss5637463374, ss5834705017, ss5965878968 NC_000005.9:28923074:G:A NC_000005.10:28922967:G:A (self)
34189834, 183792167, 12712112, 40653665, 491553835, 6120979184, ss2272453282, ss3025247367, ss3648018580, ss3714366217, ss3806401854, ss3956334111, ss4654176278, ss5263350233, ss5461643422, ss5546663899, ss5706816561, ss5806138582, ss5854743430, ss5893521836 NC_000005.10:28922967:G:A NC_000005.10:28922967:G:A (self)
ss17047637, ss22218007 NT_006576.14:11375180:G:A NC_000005.10:28922967:G:A (self)
ss545708, ss42450822, ss98606743, ss105915766, ss139989131, ss155221600 NT_006576.16:28913074:G:A NC_000005.10:28922967:G:A (self)
15141467, ss3907964073 NC_000005.9:28923074:G:T NC_000005.10:28922967:G:T (self)
6120979184 NC_000005.10:28922967:G:T NC_000005.10:28922967:G: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 rs415155

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