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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.

rs11284367

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:75334930-75334939 (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
del(T)5 / delT / dupT
Variation Type
Indel Insertion and Deletion
Frequency
(T)10=0.312022 (82589/264690, TOPMED)
delT=0.4939 (3893/7882, ALFA)
(T)10=0.3502 (1754/5008, 1000G) (+ 5 more)
(T)10=0.3295 (1270/3854, ALSPAC)
(T)10=0.3223 (1195/3708, TWINSUK)
delT=0.4945 (905/1830, Korea1K)
(T)10=0.344 (343/998, GoNL)
(T)10=0.45 (18/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ARRB1 : Intron Variant
MIR326 : 500B Downstream 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 7882 TTTTTTTTTT=0.5061 TTTTT=0.0000, TTTTTTTTT=0.4939, TTTTTTTTTTT=0.0000 0.320985 0.308805 0.370211 32
European Sub 7462 TTTTTTTTTT=0.4921 TTTTT=0.0000, TTTTTTTTT=0.5079, TTTTTTTTTTT=0.0000 0.298847 0.314661 0.386492 32
African Sub 140 TTTTTTTTTT=0.507 TTTTT=0.000, TTTTTTTTT=0.493, TTTTTTTTTTT=0.000 0.428571 0.414286 0.157143 18
African Others Sub 8 TTTTTTTTTT=0.5 TTTTT=0.0, TTTTTTTTT=0.5, TTTTTTTTTTT=0.0 0.25 0.25 0.5 32
African American Sub 132 TTTTTTTTTT=0.508 TTTTT=0.000, TTTTTTTTT=0.492, TTTTTTTTTTT=0.000 0.439394 0.424242 0.136364 19
Asian Sub 32 TTTTTTTTTT=0.91 TTTTT=0.00, TTTTTTTTT=0.09, TTTTTTTTTTT=0.00 0.875 0.0625 0.0625 4
East Asian Sub 26 TTTTTTTTTT=0.92 TTTTT=0.00, TTTTTTTTT=0.08, TTTTTTTTTTT=0.00 0.923077 0.076923 0.0 8
Other Asian Sub 6 TTTTTTTTTT=0.8 TTTTT=0.0, TTTTTTTTT=0.2, TTTTTTTTTTT=0.0 0.666667 0.0 0.333333 0
Latin American 1 Sub 14 TTTTTTTTTT=1.00 TTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 146 TTTTTTTTTT=1.000 TTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 22 TTTTTTTTTT=0.86 TTTTT=0.00, TTTTTTTTT=0.14, TTTTTTTTTTT=0.00 0.818182 0.090909 0.090909 3
Other Sub 66 TTTTTTTTTT=0.58 TTTTT=0.00, TTTTTTTTT=0.42, TTTTTTTTTTT=0.00 0.515152 0.363636 0.121212 11


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 (T)10=0.312022 delT=0.687978
Allele Frequency Aggregator Total Global 7882 (T)10=0.5061 del(T)5=0.0000, delT=0.4939, dupT=0.0000
Allele Frequency Aggregator European Sub 7462 (T)10=0.4921 del(T)5=0.0000, delT=0.5079, dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 146 (T)10=1.000 del(T)5=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator African Sub 140 (T)10=0.507 del(T)5=0.000, delT=0.493, dupT=0.000
Allele Frequency Aggregator Other Sub 66 (T)10=0.58 del(T)5=0.00, delT=0.42, dupT=0.00
Allele Frequency Aggregator Asian Sub 32 (T)10=0.91 del(T)5=0.00, delT=0.09, dupT=0.00
Allele Frequency Aggregator South Asian Sub 22 (T)10=0.86 del(T)5=0.00, delT=0.14, dupT=0.00
Allele Frequency Aggregator Latin American 1 Sub 14 (T)10=1.00 del(T)5=0.00, delT=0.00, dupT=0.00
1000Genomes Global Study-wide 5008 (T)10=0.3502 delT=0.6498
1000Genomes African Sub 1322 (T)10=0.1142 delT=0.8858
1000Genomes East Asian Sub 1008 (T)10=0.4306 delT=0.5694
1000Genomes Europe Sub 1006 (T)10=0.3539 delT=0.6461
1000Genomes South Asian Sub 978 (T)10=0.489 delT=0.511
1000Genomes American Sub 694 (T)10=0.483 delT=0.517
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (T)10=0.3295 delT=0.6705
UK 10K study - Twins TWIN COHORT Study-wide 3708 (T)10=0.3223 delT=0.6777
Korean Genome Project KOREAN Study-wide 1830 (T)10=0.5055 delT=0.4945
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 (T)10=0.344 delT=0.656
The Danish reference pan genome Danish Study-wide 40 (T)10=0.45 delT=0.55
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.75334935_75334939del
GRCh38.p14 chr 11 NC_000011.10:g.75334939del
GRCh38.p14 chr 11 NC_000011.10:g.75334939dup
GRCh37.p13 chr 11 NC_000011.9:g.75045979_75045983del
GRCh37.p13 chr 11 NC_000011.9:g.75045983del
GRCh37.p13 chr 11 NC_000011.9:g.75045983dup
ARRB1 RefSeqGene NG_028118.1:g.21898_21902del
ARRB1 RefSeqGene NG_028118.1:g.21902del
ARRB1 RefSeqGene NG_028118.1:g.21902dup
Gene: ARRB1, arrestin beta 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ARRB1 transcript variant 1 NM_004041.5:c.20+16654_20…

NM_004041.5:c.20+16654_20+16658del

N/A Intron Variant
ARRB1 transcript variant 2 NM_020251.4:c.20+16654_20…

NM_020251.4:c.20+16654_20+16658del

N/A Intron Variant
ARRB1 transcript variant X4 XM_017017752.3:c.20+16654…

XM_017017752.3:c.20+16654_20+16658del

N/A Intron Variant
ARRB1 transcript variant X7 XM_017017754.3:c.20+16654…

XM_017017754.3:c.20+16654_20+16658del

N/A Intron Variant
ARRB1 transcript variant X3 XM_011545034.2:c. N/A Genic Upstream Transcript Variant
ARRB1 transcript variant X5 XM_011545035.2:c. N/A Genic Upstream Transcript Variant
ARRB1 transcript variant X1 XM_017017750.1:c. N/A Genic Upstream Transcript Variant
ARRB1 transcript variant X2 XM_017017751.1:c. N/A Genic Upstream Transcript Variant
ARRB1 transcript variant X6 XM_017017753.1:c. N/A Genic Upstream Transcript Variant
Gene: MIR326, microRNA 326 (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR326 transcript NR_029891.1:n. N/A Downstream 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 (T)10= del(T)5 delT dupT
GRCh38.p14 chr 11 NC_000011.10:g.75334930_75334939= NC_000011.10:g.75334935_75334939del NC_000011.10:g.75334939del NC_000011.10:g.75334939dup
GRCh37.p13 chr 11 NC_000011.9:g.75045974_75045983= NC_000011.9:g.75045979_75045983del NC_000011.9:g.75045983del NC_000011.9:g.75045983dup
ARRB1 RefSeqGene NG_028118.1:g.21893_21902= NG_028118.1:g.21898_21902del NG_028118.1:g.21902del NG_028118.1:g.21902dup
ARRB1 transcript variant 1 NM_004041.4:c.20+16658= NM_004041.4:c.20+16654_20+16658del NM_004041.4:c.20+16658del NM_004041.4:c.20+16658dup
ARRB1 transcript variant 1 NM_004041.5:c.20+16658= NM_004041.5:c.20+16654_20+16658del NM_004041.5:c.20+16658del NM_004041.5:c.20+16658dup
ARRB1 transcript variant 2 NM_020251.3:c.20+16658= NM_020251.3:c.20+16654_20+16658del NM_020251.3:c.20+16658del NM_020251.3:c.20+16658dup
ARRB1 transcript variant 2 NM_020251.4:c.20+16658= NM_020251.4:c.20+16654_20+16658del NM_020251.4:c.20+16658del NM_020251.4:c.20+16658dup
ARRB1 transcript variant X4 XM_017017752.3:c.20+16658= XM_017017752.3:c.20+16654_20+16658del XM_017017752.3:c.20+16658del XM_017017752.3:c.20+16658dup
ARRB1 transcript variant X7 XM_017017754.3:c.20+16658= XM_017017754.3:c.20+16654_20+16658del XM_017017754.3:c.20+16658del XM_017017754.3:c.20+16658dup
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#.

57 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95573114 Dec 03, 2013 (138)
2 HUMANGENOME_JCVI ss97436708 Dec 05, 2013 (138)
3 BUSHMAN ss193238985 Jul 04, 2010 (132)
4 BL ss256127444 May 09, 2011 (137)
5 GMI ss287877550 May 09, 2011 (134)
6 GMI ss289080955 May 04, 2012 (137)
7 PJP ss294710224 May 09, 2011 (137)
8 1000GENOMES ss327353002 May 09, 2011 (137)
9 1000GENOMES ss327440808 May 09, 2011 (137)
10 1000GENOMES ss327854241 May 09, 2011 (137)
11 LUNTER ss552141047 Apr 25, 2013 (138)
12 LUNTER ss552401039 Apr 25, 2013 (138)
13 LUNTER ss553454657 Apr 25, 2013 (138)
14 SSMP ss664068882 Apr 01, 2015 (144)
15 BILGI_BIOE ss666540228 Apr 25, 2013 (138)
16 EVA-GONL ss988683850 Aug 21, 2014 (142)
17 1000GENOMES ss1371149207 Aug 21, 2014 (142)
18 DDI ss1536695994 Apr 01, 2015 (144)
19 EVA_GENOME_DK ss1574377496 Apr 01, 2015 (144)
20 EVA_UK10K_ALSPAC ss1707160800 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1707160865 Apr 01, 2015 (144)
22 HAMMER_LAB ss1806879889 Sep 08, 2015 (146)
23 JJLAB ss2031085222 Sep 14, 2016 (149)
24 SYSTEMSBIOZJU ss2627856099 Nov 08, 2017 (151)
25 GNOMAD ss2901500843 Nov 08, 2017 (151)
26 SWEGEN ss3008359319 Nov 08, 2017 (151)
27 MCHAISSO ss3065436785 Nov 08, 2017 (151)
28 BEROUKHIMLAB ss3644323495 Oct 12, 2018 (152)
29 BIOINF_KMB_FNS_UNIBA ss3645204940 Oct 12, 2018 (152)
30 URBANLAB ss3649643951 Oct 12, 2018 (152)
31 EVA_DECODE ss3692097992 Jul 13, 2019 (153)
32 EVA_DECODE ss3692097993 Jul 13, 2019 (153)
33 PACBIO ss3786993986 Jul 13, 2019 (153)
34 PACBIO ss3792128338 Jul 13, 2019 (153)
35 PACBIO ss3797010691 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3814826742 Jul 13, 2019 (153)
37 EVA ss3832704299 Apr 26, 2020 (154)
38 EVA ss3839911202 Apr 26, 2020 (154)
39 EVA ss3845391422 Apr 26, 2020 (154)
40 KOGIC ss3970253441 Apr 26, 2020 (154)
41 GNOMAD ss4237957196 Apr 26, 2021 (155)
42 TOPMED ss4890819906 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5202726853 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5202726854 Apr 26, 2021 (155)
45 EVA ss5237215858 Apr 26, 2021 (155)
46 1000G_HIGH_COVERAGE ss5287990854 Oct 16, 2022 (156)
47 HUGCELL_USP ss5483089870 Oct 16, 2022 (156)
48 EVA ss5624023772 Oct 16, 2022 (156)
49 SANFORD_IMAGENETICS ss5651540402 Oct 16, 2022 (156)
50 TOMMO_GENOMICS ss5750846212 Oct 16, 2022 (156)
51 TOMMO_GENOMICS ss5750846213 Oct 16, 2022 (156)
52 YY_MCH ss5812553477 Oct 16, 2022 (156)
53 EVA ss5836875837 Oct 16, 2022 (156)
54 EVA ss5850039302 Oct 16, 2022 (156)
55 EVA ss5920611641 Oct 16, 2022 (156)
56 EVA ss5942852885 Oct 16, 2022 (156)
57 EVA ss5980689425 Oct 16, 2022 (156)
58 1000Genomes NC_000011.9 - 75045974 Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 75045974 Oct 12, 2018 (152)
60 The Danish reference pan genome NC_000011.9 - 75045974 Apr 26, 2020 (154)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 384413835 (NC_000011.10:75334929::T 4/138228)
Row 384413836 (NC_000011.10:75334929:T: 95929/138168)

- Apr 26, 2021 (155)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 384413835 (NC_000011.10:75334929::T 4/138228)
Row 384413836 (NC_000011.10:75334929:T: 95929/138168)

- Apr 26, 2021 (155)
63 Genome of the Netherlands Release 5 NC_000011.9 - 75045974 Apr 26, 2020 (154)
64 Korean Genome Project NC_000011.10 - 75334930 Apr 26, 2020 (154)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 60696160 (NC_000011.9:75045973:T: 8566/16744)
Row 60696161 (NC_000011.9:75045973::T 4/16744)

- Apr 26, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 60696160 (NC_000011.9:75045973:T: 8566/16744)
Row 60696161 (NC_000011.9:75045973::T 4/16744)

- Apr 26, 2021 (155)
67 14KJPN

Submission ignored due to conflicting rows:
Row 84683316 (NC_000011.10:75334929:T: 14386/28258)
Row 84683317 (NC_000011.10:75334929::T 5/28258)

- Oct 16, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 84683316 (NC_000011.10:75334929:T: 14386/28258)
Row 84683317 (NC_000011.10:75334929::T 5/28258)

- Oct 16, 2022 (156)
69 TopMed NC_000011.10 - 75334930 Apr 26, 2021 (155)
70 UK 10K study - Twins NC_000011.9 - 75045974 Oct 12, 2018 (152)
71 ALFA NC_000011.10 - 75334930 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)
rs66992241 May 11, 2012 (137)
rs66992242 Feb 26, 2009 (130)
rs138240367 May 04, 2012 (137)
rs374910270 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3692097992 NC_000011.10:75334929:TTTTT: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTT

(self)
3790705352 NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTT

NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTT

(self)
ss256127444, ss289080955, ss327353002, ss327440808, ss327854241, ss552141047, ss552401039, ss553454657 NC_000011.8:74723621:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
ss294710224 NC_000011.8:74723630:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
54460775, 30228120, 305279, 13487320, 30228120, ss664068882, ss666540228, ss988683850, ss1371149207, ss1536695994, ss1574377496, ss1707160800, ss1707160865, ss1806879889, ss2031085222, ss2627856099, ss2901500843, ss3008359319, ss3644323495, ss3786993986, ss3792128338, ss3797010691, ss3832704299, ss3839911202, ss5202726853, ss5624023772, ss5651540402, ss5836875837, ss5942852885, ss5980689425 NC_000011.9:75045973:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
26631442, 106365562, ss3065436785, ss3645204940, ss3649643951, ss3814826742, ss3845391422, ss3970253441, ss4890819906, ss5237215858, ss5287990854, ss5483089870, ss5750846212, ss5812553477, ss5850039302, ss5920611641 NC_000011.10:75334929:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
3790705352 NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
ss3692097993 NC_000011.10:75334933:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
ss287877550 NT_167190.1:20351768:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
ss95573114, ss97436708 NT_167190.1:20351777:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
ss193238985 NT_167190.2:20809855:T: NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTT

(self)
ss5202726854 NC_000011.9:75045973::T NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTTTT

(self)
ss4237957196, ss5750846213 NC_000011.10:75334929::T NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTTTT

(self)
3790705352 NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTTTT

NC_000011.10:75334929:TTTTTTTTTT:T…

NC_000011.10:75334929:TTTTTTTTTT:TTTTTTTTTTT

(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 rs11284367

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.post820+afb47a3d