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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.

rs6658495

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:23906822 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.129079 (34166/264690, TOPMED)
G=0.121626 (16933/139222, GnomAD)
G=0.00007 (2/28256, 14KJPN) (+ 16 more)
G=0.06863 (1295/18868, ALFA)
G=0.00006 (1/16758, 8.3KJPN)
G=0.1443 (924/6404, 1000G_30x)
G=0.1344 (673/5008, 1000G)
G=0.0004 (2/4460, Estonian)
G=0.0018 (7/3854, ALSPAC)
G=0.0011 (4/3708, TWINSUK)
G=0.0014 (4/2928, KOREAN)
G=0.0005 (1/1832, Korea1K)
G=0.002 (2/998, GoNL)
G=0.000 (0/600, NorthernSweden)
G=0.039 (21/542, SGDP_PRJ)
G=0.065 (14/216, Qatari)
G=0.000 (0/200, Vietnamese)
G=0.00 (0/56, Siberian)
G=0.00 (0/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CNR2 : Intron 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 18868 G=0.06863 A=0.93137
European Sub 14264 G=0.00224 A=0.99776
African Sub 2946 G=0.3934 A=0.6066
African Others Sub 114 G=0.570 A=0.430
African American Sub 2832 G=0.3863 A=0.6137
Asian Sub 112 G=0.000 A=1.000
East Asian Sub 86 G=0.00 A=1.00
Other Asian Sub 26 G=0.00 A=1.00
Latin American 1 Sub 146 G=0.110 A=0.890
Latin American 2 Sub 610 G=0.025 A=0.975
South Asian Sub 98 G=0.00 A=1.00
Other Sub 692 G=0.105 A=0.895


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=0.129079 A=0.870921
gnomAD - Genomes Global Study-wide 139222 G=0.121626 A=0.878374
gnomAD - Genomes European Sub 75428 G=0.00202 A=0.99798
gnomAD - Genomes African Sub 41674 G=0.37973 A=0.62027
gnomAD - Genomes American Sub 13540 G=0.05258 A=0.94742
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.0087 A=0.9913
gnomAD - Genomes East Asian Sub 3122 G=0.0003 A=0.9997
gnomAD - Genomes Other Sub 2136 G=0.1002 A=0.8998
14KJPN JAPANESE Study-wide 28256 G=0.00007 A=0.99993
Allele Frequency Aggregator Total Global 18868 G=0.06863 A=0.93137
Allele Frequency Aggregator European Sub 14264 G=0.00224 A=0.99776
Allele Frequency Aggregator African Sub 2946 G=0.3934 A=0.6066
Allele Frequency Aggregator Other Sub 692 G=0.105 A=0.895
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.025 A=0.975
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.110 A=0.890
Allele Frequency Aggregator Asian Sub 112 G=0.000 A=1.000
Allele Frequency Aggregator South Asian Sub 98 G=0.00 A=1.00
8.3KJPN JAPANESE Study-wide 16758 G=0.00006 A=0.99994
1000Genomes_30x Global Study-wide 6404 G=0.1443 A=0.8557
1000Genomes_30x African Sub 1786 G=0.4877 A=0.5123
1000Genomes_30x Europe Sub 1266 G=0.0047 A=0.9953
1000Genomes_30x South Asian Sub 1202 G=0.0000 A=1.0000
1000Genomes_30x East Asian Sub 1170 G=0.0000 A=1.0000
1000Genomes_30x American Sub 980 G=0.048 A=0.952
1000Genomes Global Study-wide 5008 G=0.1344 A=0.8656
1000Genomes African Sub 1322 G=0.4788 A=0.5212
1000Genomes East Asian Sub 1008 G=0.0000 A=1.0000
1000Genomes Europe Sub 1006 G=0.0040 A=0.9960
1000Genomes South Asian Sub 978 G=0.000 A=1.000
1000Genomes American Sub 694 G=0.052 A=0.948
Genetic variation in the Estonian population Estonian Study-wide 4460 G=0.0004 A=0.9996
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.0018 A=0.9982
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.0011 A=0.9989
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.0014 A=0.9986, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0005 A=0.9995
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.002 A=0.998
Northern Sweden ACPOP Study-wide 600 G=0.000 A=1.000
SGDP_PRJ Global Study-wide 542 G=0.039 A=0.961
Qatari Global Study-wide 216 G=0.065 A=0.935
A Vietnamese Genetic Variation Database Global Study-wide 200 G=0.000 A=1.000
Siberian Global Study-wide 56 G=0.00 A=1.00
The Danish reference pan genome Danish Study-wide 40 G=0.00 A=1.00
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 1 NC_000001.11:g.23906822G>A
GRCh38.p14 chr 1 NC_000001.11:g.23906822G>C
GRCh37.p13 chr 1 NC_000001.10:g.24233312G>A
GRCh37.p13 chr 1 NC_000001.10:g.24233312G>C
Gene: CNR2, cannabinoid receptor 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CNR2 transcript NM_001841.3:c.-46+6424C>T N/A Intron Variant
CNR2 transcript variant X2 XM_011540629.4:c. N/A Genic Upstream Transcript Variant
CNR2 transcript variant X1 XM_017000261.3:c. N/A Genic Upstream Transcript Variant
CNR2 transcript variant X3 XM_047444833.1:c. N/A Genic Upstream Transcript 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
GRCh38.p14 chr 1 NC_000001.11:g.23906822= NC_000001.11:g.23906822G>A NC_000001.11:g.23906822G>C
GRCh37.p13 chr 1 NC_000001.10:g.24233312= NC_000001.10:g.24233312G>A NC_000001.10:g.24233312G>C
CNR2 transcript NM_001841.2:c.-46+6424= NM_001841.2:c.-46+6424C>T NM_001841.2:c.-46+6424C>G
CNR2 transcript NM_001841.3:c.-46+6424= NM_001841.3:c.-46+6424C>T NM_001841.3:c.-46+6424C>G
CNR2 transcript variant X2 XM_005245737.1:c.-45-31160= XM_005245737.1:c.-45-31160C>T XM_005245737.1:c.-45-31160C>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#.

83 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9812476 Jul 11, 2003 (116)
2 SC_SNP ss12568725 Aug 26, 2003 (117)
3 SC_SNP ss12993481 Dec 05, 2003 (119)
4 SC_SNP ss15445564 Feb 27, 2004 (120)
5 SSAHASNP ss20568258 Apr 05, 2004 (121)
6 ABI ss41294515 Mar 14, 2006 (126)
7 HGSV ss77171133 Dec 07, 2007 (129)
8 HGSV ss81177187 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss87301984 Mar 23, 2008 (129)
10 HUMANGENOME_JCVI ss97925746 Feb 05, 2009 (130)
11 BGI ss105132511 Dec 01, 2009 (131)
12 1000GENOMES ss108064849 Jan 22, 2009 (130)
13 1000GENOMES ss110187442 Jan 24, 2009 (130)
14 ENSEMBL ss137846754 Dec 01, 2009 (131)
15 ENSEMBL ss139010788 Dec 01, 2009 (131)
16 GMI ss154772900 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163185972 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss163983133 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss166245256 Jul 04, 2010 (132)
20 BUSHMAN ss198172127 Jul 04, 2010 (132)
21 BCM-HGSC-SUB ss205373056 Jul 04, 2010 (132)
22 1000GENOMES ss218284723 Jul 14, 2010 (132)
23 1000GENOMES ss230463462 Jul 14, 2010 (132)
24 1000GENOMES ss238170881 Jul 15, 2010 (132)
25 BL ss252986502 May 09, 2011 (134)
26 GMI ss275754279 May 04, 2012 (137)
27 GMI ss284019418 Apr 25, 2013 (138)
28 PJP ss290786772 May 09, 2011 (134)
29 ILLUMINA ss482287440 May 04, 2012 (137)
30 ILLUMINA ss483235906 May 04, 2012 (137)
31 TISHKOFF ss553895296 Apr 25, 2013 (138)
32 SSMP ss647641769 Apr 25, 2013 (138)
33 ILLUMINA ss782061438 Sep 08, 2015 (146)
34 EVA-GONL ss974950542 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1067737414 Aug 21, 2014 (142)
36 1000GENOMES ss1290052134 Aug 21, 2014 (142)
37 DDI ss1425746630 Apr 01, 2015 (144)
38 EVA_GENOME_DK ss1573943616 Apr 01, 2015 (144)
39 EVA_DECODE ss1584308667 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1599734902 Apr 01, 2015 (144)
41 EVA_UK10K_TWINSUK ss1642728935 Apr 01, 2015 (144)
42 HAMMER_LAB ss1794069290 Sep 08, 2015 (146)
43 WEILL_CORNELL_DGM ss1918161969 Feb 12, 2016 (147)
44 GENOMED ss1966705803 Jul 19, 2016 (147)
45 JJLAB ss2019593089 Sep 14, 2016 (149)
46 USC_VALOUEV ss2147598425 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2624313072 Nov 08, 2017 (151)
48 ILLUMINA ss2632490444 Nov 08, 2017 (151)
49 GRF ss2697503663 Nov 08, 2017 (151)
50 GNOMAD ss2752714072 Nov 08, 2017 (151)
51 SWEGEN ss2986472809 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3023562001 Nov 08, 2017 (151)
53 CSHL ss3343369156 Nov 08, 2017 (151)
54 ILLUMINA ss3641578293 Oct 11, 2018 (152)
55 URBANLAB ss3646623587 Oct 11, 2018 (152)
56 EGCUT_WGS ss3654540518 Jul 12, 2019 (153)
57 EVA_DECODE ss3686354204 Jul 12, 2019 (153)
58 ACPOP ss3726872854 Jul 12, 2019 (153)
59 EVA ss3745945723 Jul 12, 2019 (153)
60 PACBIO ss3783354738 Jul 12, 2019 (153)
61 PACBIO ss3789024088 Jul 12, 2019 (153)
62 PACBIO ss3793896599 Jul 12, 2019 (153)
63 KHV_HUMAN_GENOMES ss3798965056 Jul 12, 2019 (153)
64 EVA ss3826073274 Apr 25, 2020 (154)
65 EVA ss3836424638 Apr 25, 2020 (154)
66 EVA ss3841829356 Apr 25, 2020 (154)
67 SGDP_PRJ ss3848414810 Apr 25, 2020 (154)
68 KRGDB ss3893333041 Apr 25, 2020 (154)
69 KOGIC ss3944043733 Apr 25, 2020 (154)
70 TOPMED ss4442269543 Apr 25, 2021 (155)
71 TOMMO_GENOMICS ss5142949437 Apr 25, 2021 (155)
72 1000G_HIGH_COVERAGE ss5241523200 Oct 17, 2022 (156)
73 EVA ss5317361653 Oct 17, 2022 (156)
74 HUGCELL_USP ss5442670650 Oct 17, 2022 (156)
75 1000G_HIGH_COVERAGE ss5513437067 Oct 17, 2022 (156)
76 SANFORD_IMAGENETICS ss5625120045 Oct 17, 2022 (156)
77 TOMMO_GENOMICS ss5667393833 Oct 17, 2022 (156)
78 YY_MCH ss5800415619 Oct 17, 2022 (156)
79 EVA ss5831674840 Oct 17, 2022 (156)
80 EVA ss5848824218 Oct 17, 2022 (156)
81 EVA ss5907411510 Oct 17, 2022 (156)
82 EVA ss5936936677 Oct 17, 2022 (156)
83 EVA ss5979943972 Oct 17, 2022 (156)
84 1000Genomes NC_000001.10 - 24233312 Oct 11, 2018 (152)
85 1000Genomes_30x NC_000001.11 - 23906822 Oct 17, 2022 (156)
86 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 24233312 Oct 11, 2018 (152)
87 Genetic variation in the Estonian population NC_000001.10 - 24233312 Oct 11, 2018 (152)
88 The Danish reference pan genome NC_000001.10 - 24233312 Apr 25, 2020 (154)
89 gnomAD - Genomes NC_000001.11 - 23906822 Apr 25, 2021 (155)
90 Genome of the Netherlands Release 5 NC_000001.10 - 24233312 Apr 25, 2020 (154)
91 KOREAN population from KRGDB NC_000001.10 - 24233312 Apr 25, 2020 (154)
92 Korean Genome Project NC_000001.11 - 23906822 Apr 25, 2020 (154)
93 Northern Sweden NC_000001.10 - 24233312 Jul 12, 2019 (153)
94 Qatari NC_000001.10 - 24233312 Apr 25, 2020 (154)
95 SGDP_PRJ NC_000001.10 - 24233312 Apr 25, 2020 (154)
96 Siberian NC_000001.10 - 24233312 Apr 25, 2020 (154)
97 8.3KJPN NC_000001.10 - 24233312 Apr 25, 2021 (155)
98 14KJPN NC_000001.11 - 23906822 Oct 17, 2022 (156)
99 TopMed NC_000001.11 - 23906822 Apr 25, 2021 (155)
100 UK 10K study - Twins NC_000001.10 - 24233312 Oct 11, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000001.10 - 24233312 Jul 12, 2019 (153)
102 ALFA NC_000001.11 - 23906822 Apr 25, 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)
rs59688931 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77171133, ss81177187 NC_000001.8:23978617:G:A NC_000001.11:23906821:G:A (self)
ss87301984, ss108064849, ss110187442, ss163185972, ss163983133, ss166245256, ss198172127, ss205373056, ss252986502, ss275754279, ss284019418, ss290786772, ss482287440, ss1584308667 NC_000001.9:24105898:G:A NC_000001.11:23906821:G:A (self)
740835, 392931, 278766, 1427328, 170489, 510435, 157719, 203899, 431790, 114779, 918744, 392931, 83052, ss218284723, ss230463462, ss238170881, ss483235906, ss553895296, ss647641769, ss782061438, ss974950542, ss1067737414, ss1290052134, ss1425746630, ss1573943616, ss1599734902, ss1642728935, ss1794069290, ss1918161969, ss1966705803, ss2019593089, ss2147598425, ss2624313072, ss2632490444, ss2697503663, ss2752714072, ss2986472809, ss3343369156, ss3641578293, ss3654540518, ss3726872854, ss3745945723, ss3783354738, ss3789024088, ss3793896599, ss3826073274, ss3836424638, ss3848414810, ss3893333041, ss5142949437, ss5317361653, ss5625120045, ss5831674840, ss5936936677, ss5979943972 NC_000001.10:24233311:G:A NC_000001.11:23906821:G:A (self)
963002, 5159606, 421734, 1230937, 5875878, 7192186391, ss3023562001, ss3646623587, ss3686354204, ss3798965056, ss3841829356, ss3944043733, ss4442269543, ss5241523200, ss5442670650, ss5513437067, ss5667393833, ss5800415619, ss5848824218, ss5907411510 NC_000001.11:23906821:G:A NC_000001.11:23906821:G:A (self)
ss9812476, ss12568725, ss12993481 NT_004391.15:573658:G:A NC_000001.11:23906821:G:A (self)
ss15445564, ss41294515, ss97925746, ss105132511, ss137846754, ss139010788, ss154772900 NT_004610.19:10913399:G:A NC_000001.11:23906821:G:A (self)
ss20568258 NT_079488.1:39843:G:A NC_000001.11:23906821:G:A (self)
510435, ss3893333041 NC_000001.10:24233311:G:C NC_000001.11:23906821:G:C (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 rs6658495

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