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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs9327881

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:103389394 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.127708 (33803/264690, TOPMED)
A=0.091876 (13335/145142, ALFA)
A=0.127314 (17826/140016, GnomAD) (+ 20 more)
A=0.13864 (10911/78700, PAGE_STUDY)
A=0.07028 (1986/28258, 14KJPN)
A=0.07100 (1190/16760, 8.3KJPN)
A=0.1216 (779/6404, 1000G_30x)
A=0.1194 (598/5008, 1000G)
A=0.1185 (531/4480, Estonian)
A=0.0846 (326/3854, ALSPAC)
A=0.0793 (294/3708, TWINSUK)
A=0.1160 (339/2922, KOREAN)
A=0.1234 (226/1832, Korea1K)
A=0.071 (71/998, GoNL)
A=0.135 (107/792, PRJEB37584)
A=0.085 (51/600, NorthernSweden)
A=0.153 (50/326, HapMap)
A=0.083 (18/216, Qatari)
A=0.089 (19/214, Vietnamese)
G=0.444 (56/126, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, 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 145142 G=0.908124 A=0.091876
European Sub 122870 G=0.915325 A=0.084675
African Sub 8170 G=0.7764 A=0.2236
African Others Sub 292 G=0.743 A=0.257
African American Sub 7878 G=0.7776 A=0.2224
Asian Sub 656 G=0.901 A=0.099
East Asian Sub 524 G=0.893 A=0.107
Other Asian Sub 132 G=0.932 A=0.068
Latin American 1 Sub 738 G=0.883 A=0.117
Latin American 2 Sub 6278 G=0.9411 A=0.0589
South Asian Sub 190 G=0.953 A=0.047
Other Sub 6240 G=0.9080 A=0.0920


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=0.872292 A=0.127708
Allele Frequency Aggregator Total Global 145142 G=0.908124 A=0.091876
Allele Frequency Aggregator European Sub 122870 G=0.915325 A=0.084675
Allele Frequency Aggregator African Sub 8170 G=0.7764 A=0.2236
Allele Frequency Aggregator Latin American 2 Sub 6278 G=0.9411 A=0.0589
Allele Frequency Aggregator Other Sub 6240 G=0.9080 A=0.0920
Allele Frequency Aggregator Latin American 1 Sub 738 G=0.883 A=0.117
Allele Frequency Aggregator Asian Sub 656 G=0.901 A=0.099
Allele Frequency Aggregator South Asian Sub 190 G=0.953 A=0.047
gnomAD - Genomes Global Study-wide 140016 G=0.872686 A=0.127314
gnomAD - Genomes European Sub 75870 G=0.91139 A=0.08861
gnomAD - Genomes African Sub 41924 G=0.77838 A=0.22162
gnomAD - Genomes American Sub 13630 G=0.92854 A=0.07146
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.9241 A=0.0759
gnomAD - Genomes East Asian Sub 3126 G=0.8909 A=0.1091
gnomAD - Genomes Other Sub 2148 G=0.8859 A=0.1141
The PAGE Study Global Study-wide 78700 G=0.86136 A=0.13864
The PAGE Study AfricanAmerican Sub 32516 G=0.78524 A=0.21476
The PAGE Study Mexican Sub 10810 G=0.95643 A=0.04357
The PAGE Study Asian Sub 8318 G=0.9149 A=0.0851
The PAGE Study PuertoRican Sub 7918 G=0.8708 A=0.1292
The PAGE Study NativeHawaiian Sub 4532 G=0.9484 A=0.0516
The PAGE Study Cuban Sub 4230 G=0.9078 A=0.0922
The PAGE Study Dominican Sub 3828 G=0.8446 A=0.1554
The PAGE Study CentralAmerican Sub 2450 G=0.9322 A=0.0678
The PAGE Study SouthAmerican Sub 1982 G=0.9193 A=0.0807
The PAGE Study NativeAmerican Sub 1260 G=0.9024 A=0.0976
The PAGE Study SouthAsian Sub 856 G=0.932 A=0.068
14KJPN JAPANESE Study-wide 28258 G=0.92972 A=0.07028
8.3KJPN JAPANESE Study-wide 16760 G=0.92900 A=0.07100
1000Genomes_30x Global Study-wide 6404 G=0.8784 A=0.1216
1000Genomes_30x African Sub 1786 G=0.7458 A=0.2542
1000Genomes_30x Europe Sub 1266 G=0.9107 A=0.0893
1000Genomes_30x South Asian Sub 1202 G=0.9592 A=0.0408
1000Genomes_30x East Asian Sub 1170 G=0.9094 A=0.0906
1000Genomes_30x American Sub 980 G=0.942 A=0.058
1000Genomes Global Study-wide 5008 G=0.8806 A=0.1194
1000Genomes African Sub 1322 G=0.7511 A=0.2489
1000Genomes East Asian Sub 1008 G=0.9077 A=0.0923
1000Genomes Europe Sub 1006 G=0.9076 A=0.0924
1000Genomes South Asian Sub 978 G=0.956 A=0.044
1000Genomes American Sub 694 G=0.942 A=0.058
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8815 A=0.1185
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9154 A=0.0846
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9207 A=0.0793
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.8840 A=0.1160
Korean Genome Project KOREAN Study-wide 1832 G=0.8766 A=0.1234
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.929 A=0.071
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.865 A=0.135
CNV burdens in cranial meningiomas CRM Sub 792 G=0.865 A=0.135
Northern Sweden ACPOP Study-wide 600 G=0.915 A=0.085
HapMap Global Study-wide 326 G=0.847 A=0.153
HapMap African Sub 120 G=0.750 A=0.250
HapMap American Sub 120 G=0.933 A=0.067
HapMap Asian Sub 86 G=0.86 A=0.14
Qatari Global Study-wide 216 G=0.917 A=0.083
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.911 A=0.089
SGDP_PRJ Global Study-wide 126 G=0.444 A=0.556
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
Siberian Global Study-wide 12 G=0.50 A=0.50
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.103389394G>A
GRCh37.p13 chr 5 NC_000005.9:g.102725095G>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

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
GRCh38.p14 chr 5 NC_000005.10:g.103389394= NC_000005.10:g.103389394G>A
GRCh37.p13 chr 5 NC_000005.9:g.102725095= NC_000005.9:g.102725095G>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#.

97 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13904723 Dec 05, 2003 (119)
2 PERLEGEN ss14915653 Dec 05, 2003 (119)
3 PERLEGEN ss23288650 Sep 20, 2004 (123)
4 AFFY ss66019845 Dec 01, 2006 (127)
5 PERLEGEN ss68943803 May 18, 2007 (127)
6 HGSV ss77263487 Dec 06, 2007 (129)
7 1000GENOMES ss112289304 Jan 25, 2009 (130)
8 ILLUMINA-UK ss116738065 Feb 14, 2009 (130)
9 ILLUMINA ss160977847 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss165610560 Jul 04, 2010 (132)
11 BUSHMAN ss200611573 Jul 04, 2010 (132)
12 1000GENOMES ss221846712 Jul 14, 2010 (132)
13 1000GENOMES ss233065834 Jul 14, 2010 (132)
14 1000GENOMES ss240209503 Jul 15, 2010 (132)
15 GMI ss278406814 May 04, 2012 (137)
16 PJP ss293422855 May 09, 2011 (134)
17 ILLUMINA ss481870319 May 04, 2012 (137)
18 ILLUMINA ss481903093 May 04, 2012 (137)
19 ILLUMINA ss482862171 Sep 08, 2015 (146)
20 ILLUMINA ss485729377 May 04, 2012 (137)
21 ILLUMINA ss537587710 Sep 08, 2015 (146)
22 TISHKOFF ss558583594 Apr 25, 2013 (138)
23 SSMP ss652467921 Apr 25, 2013 (138)
24 ILLUMINA ss779007020 Sep 08, 2015 (146)
25 ILLUMINA ss783310379 Sep 08, 2015 (146)
26 ILLUMINA ss784262515 Sep 08, 2015 (146)
27 ILLUMINA ss832571825 Sep 08, 2015 (146)
28 ILLUMINA ss834469448 Sep 08, 2015 (146)
29 EVA-GONL ss981897801 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1072874487 Aug 21, 2014 (142)
31 1000GENOMES ss1316358514 Aug 21, 2014 (142)
32 DDI ss1430440610 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1581262924 Apr 01, 2015 (144)
34 EVA_DECODE ss1591417595 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1613554534 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1656548567 Apr 01, 2015 (144)
37 ILLUMINA ss1752539788 Sep 08, 2015 (146)
38 HAMMER_LAB ss1803944185 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1925150281 Feb 12, 2016 (147)
40 ILLUMINA ss1958808607 Feb 12, 2016 (147)
41 GENOMED ss1970161993 Jul 19, 2016 (147)
42 JJLAB ss2023181379 Sep 14, 2016 (149)
43 USC_VALOUEV ss2151338527 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2276343867 Dec 20, 2016 (150)
45 SYSTEMSBIOZJU ss2626085013 Nov 08, 2017 (151)
46 ILLUMINA ss2634315353 Nov 08, 2017 (151)
47 GRF ss2706896384 Nov 08, 2017 (151)
48 GNOMAD ss2828328392 Nov 08, 2017 (151)
49 SWEGEN ss2997453774 Nov 08, 2017 (151)
50 ILLUMINA ss3022512945 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3025373983 Nov 08, 2017 (151)
52 CSHL ss3346531270 Nov 08, 2017 (151)
53 ILLUMINA ss3629298844 Oct 12, 2018 (152)
54 ILLUMINA ss3632240577 Oct 12, 2018 (152)
55 ILLUMINA ss3633383613 Oct 12, 2018 (152)
56 ILLUMINA ss3634104553 Oct 12, 2018 (152)
57 ILLUMINA ss3635014130 Oct 12, 2018 (152)
58 ILLUMINA ss3635786410 Oct 12, 2018 (152)
59 ILLUMINA ss3636726580 Oct 12, 2018 (152)
60 ILLUMINA ss3637539049 Oct 12, 2018 (152)
61 ILLUMINA ss3640721423 Oct 12, 2018 (152)
62 ILLUMINA ss3653012702 Oct 12, 2018 (152)
63 EGCUT_WGS ss3665343265 Jul 13, 2019 (153)
64 EVA_DECODE ss3715292441 Jul 13, 2019 (153)
65 ILLUMINA ss3726254995 Jul 13, 2019 (153)
66 ACPOP ss3732632840 Jul 13, 2019 (153)
67 ILLUMINA ss3745314360 Jul 13, 2019 (153)
68 EVA ss3763805659 Jul 13, 2019 (153)
69 PAGE_CC ss3771219807 Jul 13, 2019 (153)
70 ILLUMINA ss3772808409 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3806975558 Jul 13, 2019 (153)
72 EVA ss3829399406 Apr 26, 2020 (154)
73 EVA ss3838175537 Apr 26, 2020 (154)
74 EVA ss3843617262 Apr 26, 2020 (154)
75 SGDP_PRJ ss3862528870 Apr 26, 2020 (154)
76 KRGDB ss3909136738 Apr 26, 2020 (154)
77 KOGIC ss3957270601 Apr 26, 2020 (154)
78 EVA ss3984551427 Apr 26, 2021 (155)
79 EVA ss4017221677 Apr 26, 2021 (155)
80 TOPMED ss4671203374 Apr 26, 2021 (155)
81 TOMMO_GENOMICS ss5173198613 Apr 26, 2021 (155)
82 EVA ss5237376327 Apr 26, 2021 (155)
83 1000G_HIGH_COVERAGE ss5265094246 Oct 13, 2022 (156)
84 EVA ss5315072143 Oct 13, 2022 (156)
85 HUGCELL_USP ss5463145509 Oct 13, 2022 (156)
86 1000G_HIGH_COVERAGE ss5549338762 Oct 13, 2022 (156)
87 SANFORD_IMAGENETICS ss5624596576 Oct 13, 2022 (156)
88 SANFORD_IMAGENETICS ss5638446909 Oct 13, 2022 (156)
89 TOMMO_GENOMICS ss5710009055 Oct 13, 2022 (156)
90 EVA ss5799656714 Oct 13, 2022 (156)
91 YY_MCH ss5806590361 Oct 13, 2022 (156)
92 EVA ss5835357214 Oct 13, 2022 (156)
93 EVA ss5847271150 Oct 13, 2022 (156)
94 EVA ss5848058543 Oct 13, 2022 (156)
95 EVA ss5895454391 Oct 13, 2022 (156)
96 EVA ss5966892894 Oct 13, 2022 (156)
97 EVA ss5979748523 Oct 13, 2022 (156)
98 1000Genomes NC_000005.9 - 102725095 Oct 12, 2018 (152)
99 1000Genomes_30x NC_000005.10 - 103389394 Oct 13, 2022 (156)
100 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 102725095 Oct 12, 2018 (152)
101 Genetic variation in the Estonian population NC_000005.9 - 102725095 Oct 12, 2018 (152)
102 The Danish reference pan genome NC_000005.9 - 102725095 Apr 26, 2020 (154)
103 gnomAD - Genomes NC_000005.10 - 103389394 Apr 26, 2021 (155)
104 Genome of the Netherlands Release 5 NC_000005.9 - 102725095 Apr 26, 2020 (154)
105 HapMap NC_000005.10 - 103389394 Apr 26, 2020 (154)
106 KOREAN population from KRGDB NC_000005.9 - 102725095 Apr 26, 2020 (154)
107 Korean Genome Project NC_000005.10 - 103389394 Apr 26, 2020 (154)
108 Northern Sweden NC_000005.9 - 102725095 Jul 13, 2019 (153)
109 The PAGE Study NC_000005.10 - 103389394 Jul 13, 2019 (153)
110 CNV burdens in cranial meningiomas NC_000005.9 - 102725095 Apr 26, 2021 (155)
111 Qatari NC_000005.9 - 102725095 Apr 26, 2020 (154)
112 SGDP_PRJ NC_000005.9 - 102725095 Apr 26, 2020 (154)
113 Siberian NC_000005.9 - 102725095 Apr 26, 2020 (154)
114 8.3KJPN NC_000005.9 - 102725095 Apr 26, 2021 (155)
115 14KJPN NC_000005.10 - 103389394 Oct 13, 2022 (156)
116 TopMed NC_000005.10 - 103389394 Apr 26, 2021 (155)
117 UK 10K study - Twins NC_000005.9 - 102725095 Oct 12, 2018 (152)
118 A Vietnamese Genetic Variation Database NC_000005.9 - 102725095 Jul 13, 2019 (153)
119 ALFA NC_000005.10 - 103389394 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
ss77263487, ss112289304, ss116738065, ss165610560, ss200611573, ss278406814, ss293422855, ss481870319, ss1591417595 NC_000005.8:102752993:G:A NC_000005.10:103389393:G:A (self)
28006934, 15573118, 11081513, 7427863, 6922030, 16314132, 5917705, 100798, 7192211, 14545850, 3854881, 31167920, 15573118, 3455564, ss221846712, ss233065834, ss240209503, ss481903093, ss482862171, ss485729377, ss537587710, ss558583594, ss652467921, ss779007020, ss783310379, ss784262515, ss832571825, ss834469448, ss981897801, ss1072874487, ss1316358514, ss1430440610, ss1581262924, ss1613554534, ss1656548567, ss1752539788, ss1803944185, ss1925150281, ss1958808607, ss1970161993, ss2023181379, ss2151338527, ss2626085013, ss2634315353, ss2706896384, ss2828328392, ss2997453774, ss3022512945, ss3346531270, ss3629298844, ss3632240577, ss3633383613, ss3634104553, ss3635014130, ss3635786410, ss3636726580, ss3637539049, ss3640721423, ss3653012702, ss3665343265, ss3732632840, ss3745314360, ss3763805659, ss3772808409, ss3829399406, ss3838175537, ss3862528870, ss3909136738, ss3984551427, ss4017221677, ss5173198613, ss5237376327, ss5315072143, ss5624596576, ss5638446909, ss5799656714, ss5835357214, ss5847271150, ss5848058543, ss5966892894, ss5979748523 NC_000005.9:102725094:G:A NC_000005.10:103389393:G:A (self)
36864697, 198117252, 2927375, 13648602, 441276, 43846159, 508580931, 5203087919, ss2276343867, ss3025373983, ss3715292441, ss3726254995, ss3771219807, ss3806975558, ss3843617262, ss3957270601, ss4671203374, ss5265094246, ss5463145509, ss5549338762, ss5710009055, ss5806590361, ss5895454391 NC_000005.10:103389393:G:A NC_000005.10:103389393:G:A (self)
ss13904723 NT_034772.5:5140107:G:A NC_000005.10:103389393:G:A (self)
ss14915653, ss23288650, ss66019845, ss68943803, ss160977847 NT_034772.6:11038966:G:A NC_000005.10:103389393: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.

No publications for rs9327881

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