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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.

rs1097

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:94377508 (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>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.352016 (93175/264690, TOPMED)
G=0.354107 (49570/139986, GnomAD)
G=0.24910 (7039/28258, 14KJPN) (+ 15 more)
G=0.24961 (4183/16758, 8.3KJPN)
G=0.4472 (3822/8547, ALFA)
G=0.3393 (1699/5008, 1000G)
G=0.3231 (1447/4478, Estonian)
G=0.3324 (1281/3854, ALSPAC)
G=0.3333 (1236/3708, TWINSUK)
G=0.2184 (640/2930, KOREAN)
G=0.322 (321/998, GoNL)
G=0.378 (227/600, NorthernSweden)
G=0.222 (113/510, SGDP_PRJ)
G=0.348 (114/328, HapMap)
G=0.264 (57/216, Qatari)
G=0.341 (71/208, Vietnamese)
G=0.23 (12/52, Siberian)
G=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GPR83 : 3 Prime UTR Variant
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 8547 G=0.4472 A=0.0000, C=0.5527, T=0.0001
European Sub 7459 G=0.3960 A=0.0000, C=0.6038, T=0.0001
African Sub 716 G=0.902 A=0.000, C=0.098, T=0.000
African Others Sub 46 G=0.91 A=0.00, C=0.09, T=0.00
African American Sub 670 G=0.901 A=0.000, C=0.099, T=0.000
Asian Sub 12 G=0.92 A=0.00, C=0.08, T=0.00
East Asian Sub 4 G=1.0 A=0.0, C=0.0, T=0.0
Other Asian Sub 8 G=0.9 A=0.0, C=0.1, T=0.0
Latin American 1 Sub 22 G=1.00 A=0.00, C=0.00, T=0.00
Latin American 2 Sub 28 G=1.00 A=0.00, C=0.00, T=0.00
South Asian Sub 10 G=0.7 A=0.0, C=0.3, T=0.0
Other Sub 300 G=0.513 A=0.000, C=0.487, 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=0.352016 C=0.647984
gnomAD - Genomes Global Study-wide 139986 G=0.354107 C=0.645893
gnomAD - Genomes European Sub 75850 G=0.31906 C=0.68094
gnomAD - Genomes African Sub 41914 G=0.45624 C=0.54376
gnomAD - Genomes American Sub 13636 G=0.27457 C=0.72543
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.2452 C=0.7548
gnomAD - Genomes East Asian Sub 3118 G=0.3040 C=0.6960
gnomAD - Genomes Other Sub 2144 G=0.3447 C=0.6553
14KJPN JAPANESE Study-wide 28258 G=0.24910 C=0.75090
8.3KJPN JAPANESE Study-wide 16758 G=0.24961 C=0.75039
Allele Frequency Aggregator Total Global 8547 G=0.4472 A=0.0000, C=0.5527, T=0.0001
Allele Frequency Aggregator European Sub 7459 G=0.3960 A=0.0000, C=0.6038, T=0.0001
Allele Frequency Aggregator African Sub 716 G=0.902 A=0.000, C=0.098, T=0.000
Allele Frequency Aggregator Other Sub 300 G=0.513 A=0.000, C=0.487, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 28 G=1.00 A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator Latin American 1 Sub 22 G=1.00 A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator Asian Sub 12 G=0.92 A=0.00, C=0.08, T=0.00
Allele Frequency Aggregator South Asian Sub 10 G=0.7 A=0.0, C=0.3, T=0.0
1000Genomes Global Study-wide 5008 G=0.3393 C=0.6607
1000Genomes African Sub 1322 G=0.4864 C=0.5136
1000Genomes East Asian Sub 1008 G=0.2778 C=0.7222
1000Genomes Europe Sub 1006 G=0.2982 C=0.7018
1000Genomes South Asian Sub 978 G=0.298 C=0.702
1000Genomes American Sub 694 G=0.267 C=0.733
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.3231 C=0.6769
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3324 C=0.6676
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3333 C=0.6667
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.2184 C=0.7816
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.322 C=0.678
Northern Sweden ACPOP Study-wide 600 G=0.378 C=0.622
SGDP_PRJ Global Study-wide 510 G=0.222 C=0.778
HapMap Global Study-wide 328 G=0.348 C=0.652
HapMap African Sub 120 G=0.500 C=0.500
HapMap American Sub 120 G=0.325 C=0.675
HapMap Asian Sub 88 G=0.17 C=0.83
Qatari Global Study-wide 216 G=0.264 C=0.736
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.341 C=0.659
Siberian Global Study-wide 52 G=0.23 C=0.77
The Danish reference pan genome Danish Study-wide 40 G=0.40 C=0.60
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 11 NC_000011.10:g.94377508G>A
GRCh38.p14 chr 11 NC_000011.10:g.94377508G>C
GRCh38.p14 chr 11 NC_000011.10:g.94377508G>T
GRCh37.p13 chr 11 NC_000011.9:g.94110674G>A
GRCh37.p13 chr 11 NC_000011.9:g.94110674G>C
GRCh37.p13 chr 11 NC_000011.9:g.94110674G>T
Gene: GPR83, G protein-coupled receptor 83 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GPR83 transcript variant 1 NM_016540.4:c.*2641= N/A 3 Prime UTR Variant
GPR83 transcript variant 2 NM_001330345.2:c.*2641= N/A 3 Prime UTR Variant
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 C T
GRCh38.p14 chr 11 NC_000011.10:g.94377508= NC_000011.10:g.94377508G>A NC_000011.10:g.94377508G>C NC_000011.10:g.94377508G>T
GRCh37.p13 chr 11 NC_000011.9:g.94110674= NC_000011.9:g.94110674G>A NC_000011.9:g.94110674G>C NC_000011.9:g.94110674G>T
GPR83 transcript variant 1 NM_016540.4:c.*2641= NM_016540.4:c.*2641C>T NM_016540.4:c.*2641C>G NM_016540.4:c.*2641C>A
GPR83 transcript variant 1 NM_016540.3:c.*2641= NM_016540.3:c.*2641C>T NM_016540.3:c.*2641C>G NM_016540.3:c.*2641C>A
GPR83 transcript variant 2 NM_001330345.2:c.*2641= NM_001330345.2:c.*2641C>T NM_001330345.2:c.*2641C>G NM_001330345.2:c.*2641C>A
GPR83 transcript variant 2 NM_001330345.1:c.*2641= NM_001330345.1:c.*2641C>T NM_001330345.1:c.*2641C>G NM_001330345.1:c.*2641C>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#.

76 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 WIAF ss1122 Sep 19, 2000 (36)
2 TSC-CSHL ss2830076 Jan 22, 2001 (92)
3 WI_SSAHASNP ss12128459 Jul 11, 2003 (116)
4 SSAHASNP ss20796114 Apr 05, 2004 (121)
5 ABI ss40049125 Mar 14, 2006 (126)
6 KRIBB_YJKIM ss80753391 Dec 15, 2007 (130)
7 BCMHGSC_JDW ss88705421 Mar 24, 2008 (129)
8 HUMANGENOME_JCVI ss97408167 Feb 05, 2009 (130)
9 BGI ss106761060 Feb 05, 2009 (130)
10 1000GENOMES ss110866103 Jan 25, 2009 (130)
11 ILLUMINA-UK ss119935710 Dec 01, 2009 (131)
12 ENSEMBL ss132737031 Dec 01, 2009 (131)
13 ENSEMBL ss137610751 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss168684722 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss170633291 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss175238391 Jul 04, 2010 (132)
17 BUSHMAN ss203054765 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss207832265 Jul 04, 2010 (132)
19 1000GENOMES ss211177075 Jul 14, 2010 (132)
20 1000GENOMES ss225393663 Jul 14, 2010 (132)
21 1000GENOMES ss235668330 Jul 15, 2010 (132)
22 1000GENOMES ss242277149 Jul 15, 2010 (132)
23 BL ss255341133 May 09, 2011 (134)
24 GMI ss281121648 May 04, 2012 (137)
25 GMI ss286432550 Apr 25, 2013 (138)
26 PJP ss291101809 May 09, 2011 (134)
27 TISHKOFF ss562746673 Apr 25, 2013 (138)
28 SSMP ss658265321 Apr 25, 2013 (138)
29 EVA-GONL ss988830793 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1077947386 Aug 21, 2014 (142)
31 1000GENOMES ss1342474021 Aug 21, 2014 (142)
32 DDI ss1426720631 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1575873138 Apr 01, 2015 (144)
34 EVA_DECODE ss1598493858 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1627200246 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1670194279 Apr 01, 2015 (144)
37 HAMMER_LAB ss1806941129 Sep 08, 2015 (146)
38 WEILL_CORNELL_DGM ss1932193211 Feb 12, 2016 (147)
39 GENOMED ss1967425567 Jul 19, 2016 (147)
40 JJLAB ss2026838744 Sep 14, 2016 (149)
41 USC_VALOUEV ss2155150423 Dec 20, 2016 (150)
42 HUMAN_LONGEVITY ss2184687575 Dec 20, 2016 (150)
43 SYSTEMSBIOZJU ss2627892973 Nov 08, 2017 (151)
44 GRF ss2699452781 Nov 08, 2017 (151)
45 SWEGEN ss3008580958 Nov 08, 2017 (151)
46 BIOINF_KMB_FNS_UNIBA ss3027216563 Nov 08, 2017 (151)
47 CSHL ss3349734701 Nov 08, 2017 (151)
48 OMUKHERJEE_ADBS ss3646431627 Oct 12, 2018 (152)
49 URBANLAB ss3649674440 Oct 12, 2018 (152)
50 EGCUT_WGS ss3675897051 Jul 13, 2019 (153)
51 EVA_DECODE ss3692363580 Jul 13, 2019 (153)
52 ACPOP ss3738431387 Jul 13, 2019 (153)
53 EVA ss3749660487 Jul 13, 2019 (153)
54 PACBIO ss3787031420 Jul 13, 2019 (153)
55 PACBIO ss3792160343 Jul 13, 2019 (153)
56 PACBIO ss3797042775 Jul 13, 2019 (153)
57 KHV_HUMAN_GENOMES ss3814993291 Jul 13, 2019 (153)
58 EVA ss3832773651 Apr 26, 2020 (154)
59 EVA ss3839946718 Apr 26, 2020 (154)
60 EVA ss3845427442 Apr 26, 2020 (154)
61 SGDP_PRJ ss3876883644 Apr 26, 2020 (154)
62 KRGDB ss3925316838 Apr 26, 2020 (154)
63 FSA-LAB ss3984011358 Apr 26, 2021 (155)
64 EVA ss3986056320 Apr 26, 2021 (155)
65 GNOMAD ss4240364259 Apr 26, 2021 (155)
66 TOPMED ss4895677325 Apr 26, 2021 (155)
67 TOMMO_GENOMICS ss5203349704 Apr 26, 2021 (155)
68 1000G_HIGH_COVERAGE ss5288474258 Oct 16, 2022 (156)
69 EVA ss5401464720 Oct 16, 2022 (156)
70 HUGCELL_USP ss5483509831 Oct 16, 2022 (156)
71 EVA ss5510471752 Oct 16, 2022 (156)
72 TOMMO_GENOMICS ss5751643212 Oct 16, 2022 (156)
73 EVA ss5837059156 Oct 16, 2022 (156)
74 EVA ss5850095580 Oct 16, 2022 (156)
75 EVA ss5921162670 Oct 16, 2022 (156)
76 EVA ss5943143242 Oct 16, 2022 (156)
77 1000Genomes NC_000011.9 - 94110674 Oct 12, 2018 (152)
78 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 94110674 Oct 12, 2018 (152)
79 Genetic variation in the Estonian population NC_000011.9 - 94110674 Oct 12, 2018 (152)
80 The Danish reference pan genome NC_000011.9 - 94110674 Apr 26, 2020 (154)
81 gnomAD - Genomes NC_000011.10 - 94377508 Apr 26, 2021 (155)
82 Genome of the Netherlands Release 5 NC_000011.9 - 94110674 Apr 26, 2020 (154)
83 HapMap NC_000011.10 - 94377508 Apr 26, 2020 (154)
84 KOREAN population from KRGDB NC_000011.9 - 94110674 Apr 26, 2020 (154)
85 Northern Sweden NC_000011.9 - 94110674 Jul 13, 2019 (153)
86 Qatari NC_000011.9 - 94110674 Apr 26, 2020 (154)
87 SGDP_PRJ NC_000011.9 - 94110674 Apr 26, 2020 (154)
88 Siberian NC_000011.9 - 94110674 Apr 26, 2020 (154)
89 8.3KJPN NC_000011.9 - 94110674 Apr 26, 2021 (155)
90 14KJPN NC_000011.10 - 94377508 Oct 16, 2022 (156)
91 TopMed NC_000011.10 - 94377508 Apr 26, 2021 (155)
92 UK 10K study - Twins NC_000011.9 - 94110674 Oct 12, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000011.9 - 94110674 Jul 13, 2019 (153)
94 ALFA NC_000011.10 - 94377508 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)
rs59490577 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2761052239 NC_000011.10:94377507:G:A NC_000011.10:94377507:G:A (self)
ss88705421, ss110866103, ss119935710, ss168684722, ss170633291, ss175238391, ss203054765, ss207832265, ss211177075, ss255341133, ss281121648, ss286432550, ss291101809, ss1598493858 NC_000011.8:93750321:G:C NC_000011.10:94377507:G:C (self)
55037679, 30543635, 21635299, 2682019, 13630588, 32494232, 11716252, 14235141, 28900624, 7666777, 61319011, 30543635, 6776006, ss225393663, ss235668330, ss242277149, ss562746673, ss658265321, ss988830793, ss1077947386, ss1342474021, ss1426720631, ss1575873138, ss1627200246, ss1670194279, ss1806941129, ss1932193211, ss1967425567, ss2026838744, ss2155150423, ss2627892973, ss2699452781, ss3008580958, ss3349734701, ss3646431627, ss3675897051, ss3738431387, ss3749660487, ss3787031420, ss3792160343, ss3797042775, ss3832773651, ss3839946718, ss3876883644, ss3925316838, ss3984011358, ss3986056320, ss5203349704, ss5401464720, ss5510471752, ss5837059156, ss5943143242 NC_000011.9:94110673:G:C NC_000011.10:94377507:G:C (self)
388427308, 669340, 85480316, 111222981, 2761052239, ss2184687575, ss3027216563, ss3649674440, ss3692363580, ss3814993291, ss3845427442, ss4240364259, ss4895677325, ss5288474258, ss5483509831, ss5751643212, ss5850095580, ss5921162670 NC_000011.10:94377507:G:C NC_000011.10:94377507:G:C (self)
ss12128459 NT_008984.15:6372283:G:C NC_000011.10:94377507:G:C (self)
ss20796114 NT_008984.16:6372295:G:C NC_000011.10:94377507:G:C (self)
ss1122, ss2830076, ss40049125, ss80753391, ss97408167, ss106761060, ss132737031, ss137610751 NT_167190.1:39416468:G:C NC_000011.10:94377507:G:C (self)
2761052239 NC_000011.10:94377507:G:T NC_000011.10:94377507: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 rs1097

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