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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.

rs6116135

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:118289 (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=0.146938 (38893/264690, TOPMED)
A=0.137424 (19247/140056, GnomAD)
A=0.10090 (3606/35740, ALFA) (+ 20 more)
A=0.07230 (2043/28258, 14KJPN)
A=0.07166 (1201/16760, 8.3KJPN)
A=0.1626 (1041/6404, 1000G_30x)
A=0.1611 (807/5008, 1000G)
A=0.0482 (216/4480, Estonian)
A=0.0864 (333/3854, ALSPAC)
A=0.0844 (313/3708, TWINSUK)
A=0.0736 (215/2922, KOREAN)
A=0.0639 (117/1832, Korea1K)
A=0.1996 (339/1698, HapMap)
A=0.072 (72/998, GoNL)
A=0.073 (46/626, Chileans)
A=0.057 (34/600, NorthernSweden)
A=0.171 (37/216, Qatari)
A=0.093 (20/216, Vietnamese)
G=0.396 (42/106, SGDP_PRJ)
A=0.17 (12/70, Ancient Sardinia)
A=0.05 (2/40, GENOME_DK)
G=0.5 (2/4, Siberian)
A=0.5 (2/4, 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 35740 G=0.89910 A=0.10090
European Sub 26024 G=0.92249 A=0.07751
African Sub 3790 G=0.7422 A=0.2578
African Others Sub 136 G=0.691 A=0.309
African American Sub 3654 G=0.7441 A=0.2559
Asian Sub 174 G=0.920 A=0.080
East Asian Sub 114 G=0.939 A=0.061
Other Asian Sub 60 G=0.88 A=0.12
Latin American 1 Sub 306 G=0.830 A=0.170
Latin American 2 Sub 2824 G=0.9157 A=0.0843
South Asian Sub 128 G=0.844 A=0.156
Other Sub 2494 G=0.8845 A=0.1155


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=0.853062 A=0.146938
gnomAD - Genomes Global Study-wide 140056 G=0.862576 A=0.137424
gnomAD - Genomes European Sub 75902 G=0.92539 A=0.07461
gnomAD - Genomes African Sub 41926 G=0.73885 A=0.26115
gnomAD - Genomes American Sub 13630 G=0.88870 A=0.11130
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.8183 A=0.1817
gnomAD - Genomes East Asian Sub 3130 G=0.9339 A=0.0661
gnomAD - Genomes Other Sub 2150 G=0.8567 A=0.1433
Allele Frequency Aggregator Total Global 35740 G=0.89910 A=0.10090
Allele Frequency Aggregator European Sub 26024 G=0.92249 A=0.07751
Allele Frequency Aggregator African Sub 3790 G=0.7422 A=0.2578
Allele Frequency Aggregator Latin American 2 Sub 2824 G=0.9157 A=0.0843
Allele Frequency Aggregator Other Sub 2494 G=0.8845 A=0.1155
Allele Frequency Aggregator Latin American 1 Sub 306 G=0.830 A=0.170
Allele Frequency Aggregator Asian Sub 174 G=0.920 A=0.080
Allele Frequency Aggregator South Asian Sub 128 G=0.844 A=0.156
14KJPN JAPANESE Study-wide 28258 G=0.92770 A=0.07230
8.3KJPN JAPANESE Study-wide 16760 G=0.92834 A=0.07166
1000Genomes_30x Global Study-wide 6404 G=0.8374 A=0.1626
1000Genomes_30x African Sub 1786 G=0.7049 A=0.2951
1000Genomes_30x Europe Sub 1266 G=0.9115 A=0.0885
1000Genomes_30x South Asian Sub 1202 G=0.8311 A=0.1689
1000Genomes_30x East Asian Sub 1170 G=0.9145 A=0.0855
1000Genomes_30x American Sub 980 G=0.899 A=0.101
1000Genomes Global Study-wide 5008 G=0.8389 A=0.1611
1000Genomes African Sub 1322 G=0.7065 A=0.2935
1000Genomes East Asian Sub 1008 G=0.9147 A=0.0853
1000Genomes Europe Sub 1006 G=0.9085 A=0.0915
1000Genomes South Asian Sub 978 G=0.831 A=0.169
1000Genomes American Sub 694 G=0.890 A=0.110
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9518 A=0.0482
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9136 A=0.0864
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9156 A=0.0844
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9264 A=0.0736
Korean Genome Project KOREAN Study-wide 1832 G=0.9361 A=0.0639
HapMap Global Study-wide 1698 G=0.8004 A=0.1996
HapMap American Sub 758 G=0.885 A=0.115
HapMap African Sub 686 G=0.656 A=0.344
HapMap Asian Sub 254 G=0.937 A=0.063
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.928 A=0.072
Chileans Chilean Study-wide 626 G=0.927 A=0.073
Northern Sweden ACPOP Study-wide 600 G=0.943 A=0.057
Qatari Global Study-wide 216 G=0.829 A=0.171
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.907 A=0.093
SGDP_PRJ Global Study-wide 106 G=0.396 A=0.604
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 70 G=0.83 A=0.17
The Danish reference pan genome Danish Study-wide 40 G=0.95 A=0.05
Siberian Global Study-wide 4 G=0.5 A=0.5
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 20 NC_000020.11:g.118289G>A
GRCh37.p13 chr 20 NC_000020.10:g.98930G>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 20 NC_000020.11:g.118289= NC_000020.11:g.118289G>A
GRCh37.p13 chr 20 NC_000020.10:g.98930= NC_000020.10:g.98930G>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#.

69 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss8443846 Apr 21, 2003 (114)
2 AFFY ss76815332 Dec 07, 2007 (129)
3 BCMHGSC_JDW ss91611670 Mar 24, 2008 (129)
4 KRIBB_YJKIM ss104920520 Feb 06, 2009 (130)
5 ILLUMINA-UK ss117452110 Feb 14, 2009 (130)
6 ENSEMBL ss138196781 Dec 01, 2009 (131)
7 BUSHMAN ss203804055 Jul 04, 2010 (132)
8 1000GENOMES ss228210717 Jul 14, 2010 (132)
9 1000GENOMES ss237729995 Jul 15, 2010 (132)
10 1000GENOMES ss243923504 Jul 15, 2010 (132)
11 GMI ss283269000 May 04, 2012 (137)
12 PJP ss292559609 May 09, 2011 (134)
13 ILLUMINA ss483685067 May 04, 2012 (137)
14 ILLUMINA ss484201885 May 04, 2012 (137)
15 ILLUMINA ss535887227 Sep 08, 2015 (146)
16 TISHKOFF ss566082576 Apr 25, 2013 (138)
17 SSMP ss661953497 Apr 25, 2013 (138)
18 ILLUMINA ss780370160 Sep 08, 2015 (146)
19 ILLUMINA ss782286025 Sep 08, 2015 (146)
20 ILLUMINA ss835858305 Sep 08, 2015 (146)
21 EVA-GONL ss994456955 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1082009667 Aug 21, 2014 (142)
23 1000GENOMES ss1363766674 Aug 21, 2014 (142)
24 DDI ss1428970697 Apr 01, 2015 (144)
25 EVA_GENOME_DK ss1579402659 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1638249594 Apr 01, 2015 (144)
27 EVA_UK10K_TWINSUK ss1681243627 Apr 01, 2015 (144)
28 EVA_DECODE ss1698510518 Apr 01, 2015 (144)
29 EVA_SVP ss1713672366 Apr 01, 2015 (144)
30 HAMMER_LAB ss1809383689 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1937965521 Feb 12, 2016 (147)
32 GENOMED ss1969071157 Jul 19, 2016 (147)
33 JJLAB ss2029757363 Sep 14, 2016 (149)
34 USC_VALOUEV ss2158311929 Dec 20, 2016 (150)
35 HUMAN_LONGEVITY ss2240714965 Dec 20, 2016 (150)
36 SYSTEMSBIOZJU ss2629376484 Nov 08, 2017 (151)
37 ILLUMINA ss2633765408 Nov 08, 2017 (151)
38 GRF ss2703983213 Nov 08, 2017 (151)
39 GNOMAD ss2964604662 Nov 08, 2017 (151)
40 SWEGEN ss3017744154 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3028710443 Nov 08, 2017 (151)
42 CSHL ss3352380264 Nov 08, 2017 (151)
43 ILLUMINA ss3628330962 Oct 12, 2018 (152)
44 ILLUMINA ss3631723836 Oct 12, 2018 (152)
45 ILLUMINA ss3642167792 Oct 12, 2018 (152)
46 EGCUT_WGS ss3684456816 Jul 13, 2019 (153)
47 EVA_DECODE ss3706405584 Jul 13, 2019 (153)
48 ACPOP ss3743179070 Jul 13, 2019 (153)
49 EVA ss3758326317 Jul 13, 2019 (153)
50 KHV_HUMAN_GENOMES ss3821499219 Jul 13, 2019 (153)
51 EVA ss3835545027 Apr 27, 2020 (154)
52 SGDP_PRJ ss3888570673 Apr 27, 2020 (154)
53 KRGDB ss3938747496 Apr 27, 2020 (154)
54 KOGIC ss3981679031 Apr 27, 2020 (154)
55 EVA ss3985861776 Apr 27, 2021 (155)
56 TOPMED ss5079741871 Apr 27, 2021 (155)
57 TOMMO_GENOMICS ss5228506484 Apr 27, 2021 (155)
58 1000G_HIGH_COVERAGE ss5307821038 Oct 13, 2022 (156)
59 EVA ss5315987159 Oct 13, 2022 (156)
60 EVA ss5435784236 Oct 13, 2022 (156)
61 HUGCELL_USP ss5500246382 Oct 13, 2022 (156)
62 1000G_HIGH_COVERAGE ss5613777740 Oct 13, 2022 (156)
63 SANFORD_IMAGENETICS ss5662711709 Oct 13, 2022 (156)
64 TOMMO_GENOMICS ss5787398497 Oct 13, 2022 (156)
65 YY_MCH ss5817748794 Oct 13, 2022 (156)
66 EVA ss5845337482 Oct 13, 2022 (156)
67 EVA ss5853034254 Oct 13, 2022 (156)
68 EVA ss5922372302 Oct 13, 2022 (156)
69 EVA ss5957607359 Oct 13, 2022 (156)
70 1000Genomes NC_000020.10 - 98930 Oct 12, 2018 (152)
71 1000Genomes_30x NC_000020.11 - 118289 Oct 13, 2022 (156)
72 The Avon Longitudinal Study of Parents and Children NC_000020.10 - 98930 Oct 12, 2018 (152)
73 Chileans NC_000020.10 - 98930 Apr 27, 2020 (154)
74 Genetic variation in the Estonian population NC_000020.10 - 98930 Oct 12, 2018 (152)
75 The Danish reference pan genome NC_000020.10 - 98930 Apr 27, 2020 (154)
76 gnomAD - Genomes NC_000020.11 - 118289 Apr 27, 2021 (155)
77 Genome of the Netherlands Release 5 NC_000020.10 - 98930 Apr 27, 2020 (154)
78 HapMap NC_000020.11 - 118289 Apr 27, 2020 (154)
79 KOREAN population from KRGDB NC_000020.10 - 98930 Apr 27, 2020 (154)
80 Korean Genome Project NC_000020.11 - 118289 Apr 27, 2020 (154)
81 Northern Sweden NC_000020.10 - 98930 Jul 13, 2019 (153)
82 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000020.10 - 98930 Apr 27, 2021 (155)
83 Qatari NC_000020.10 - 98930 Apr 27, 2020 (154)
84 SGDP_PRJ NC_000020.10 - 98930 Apr 27, 2020 (154)
85 Siberian NC_000020.10 - 98930 Apr 27, 2020 (154)
86 8.3KJPN NC_000020.10 - 98930 Apr 27, 2021 (155)
87 14KJPN NC_000020.11 - 118289 Oct 13, 2022 (156)
88 TopMed NC_000020.11 - 118289 Apr 27, 2021 (155)
89 UK 10K study - Twins NC_000020.10 - 98930 Oct 12, 2018 (152)
90 A Vietnamese Genetic Variation Database NC_000020.10 - 98930 Jul 13, 2019 (153)
91 ALFA NC_000020.11 - 118289 Apr 27, 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
ss91611670, ss117452110, ss203804055, ss283269000, ss292559609, ss484201885, ss1698510518, ss1713672366 NC_000020.9:46929:G:A NC_000020.11:118288:G:A (self)
77196050, 42725933, 247576, 30195064, 5567598, 19037781, 45924890, 16463935, 1087703, 20007443, 40587653, 10828283, 86475791, 42725933, 9432454, ss228210717, ss237729995, ss243923504, ss483685067, ss535887227, ss566082576, ss661953497, ss780370160, ss782286025, ss835858305, ss994456955, ss1082009667, ss1363766674, ss1428970697, ss1579402659, ss1638249594, ss1681243627, ss1809383689, ss1937965521, ss1969071157, ss2029757363, ss2158311929, ss2629376484, ss2633765408, ss2703983213, ss2964604662, ss3017744154, ss3352380264, ss3628330962, ss3631723836, ss3642167792, ss3684456816, ss3743179070, ss3758326317, ss3835545027, ss3888570673, ss3938747496, ss3985861776, ss5228506484, ss5315987159, ss5435784236, ss5662711709, ss5845337482, ss5957607359 NC_000020.10:98929:G:A NC_000020.11:118288:G:A (self)
101303675, 544386112, 2047624, 38057032, 121235601, 354850816, 11553033657, ss2240714965, ss3028710443, ss3706405584, ss3821499219, ss3981679031, ss5079741871, ss5307821038, ss5500246382, ss5613777740, ss5787398497, ss5817748794, ss5853034254, ss5922372302 NC_000020.11:118288:G:A NC_000020.11:118288:G:A (self)
ss8443846, ss76815332, ss104920520, ss138196781 NT_011387.8:38929:G:A NC_000020.11:118288: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 rs6116135

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