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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.

rs11876192

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:31360071 (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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.169243 (44797/264690, TOPMED)
A=0.185548 (25950/139856, GnomAD)
A=0.22072 (16711/75710, ALFA) (+ 19 more)
A=0.02406 (680/28258, 14KJPN)
A=0.02339 (392/16760, 8.3KJPN)
A=0.1444 (925/6404, 1000G_30x)
A=0.1468 (735/5008, 1000G)
A=0.2275 (1019/4480, Estonian)
A=0.2470 (952/3854, ALSPAC)
A=0.2632 (976/3708, TWINSUK)
A=0.0177 (52/2930, KOREAN)
A=0.1286 (268/2084, HGDP_Stanford)
A=0.1126 (213/1892, HapMap)
A=0.0186 (34/1832, Korea1K)
A=0.215 (215/998, GoNL)
A=0.310 (186/600, NorthernSweden)
A=0.113 (61/538, SGDP_PRJ)
A=0.162 (35/216, Qatari)
A=0.079 (17/214, Vietnamese)
A=0.16 (16/100, Ancient Sardinia)
A=0.20 (11/54, Siberian)
A=0.23 (9/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DSG1-AS1 : 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 75710 A=0.22072 C=0.77928
European Sub 59726 A=0.23740 C=0.76260
African Sub 5178 A=0.1089 C=0.8911
African Others Sub 182 A=0.082 C=0.918
African American Sub 4996 A=0.1099 C=0.8901
Asian Sub 234 A=0.081 C=0.919
East Asian Sub 162 A=0.031 C=0.969
Other Asian Sub 72 A=0.19 C=0.81
Latin American 1 Sub 392 A=0.151 C=0.849
Latin American 2 Sub 3384 A=0.1087 C=0.8913
South Asian Sub 4968 A=0.2482 C=0.7518
Other Sub 1828 A=0.1581 C=0.8419


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 A=0.169243 C=0.830757
gnomAD - Genomes Global Study-wide 139856 A=0.185548 C=0.814452
gnomAD - Genomes European Sub 75788 A=0.24225 C=0.75775
gnomAD - Genomes African Sub 41874 A=0.10539 C=0.89461
gnomAD - Genomes American Sub 13602 A=0.13557 C=0.86443
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2414 C=0.7586
gnomAD - Genomes East Asian Sub 3130 A=0.0492 C=0.9508
gnomAD - Genomes Other Sub 2140 A=0.1762 C=0.8238
Allele Frequency Aggregator Total Global 75710 A=0.22072 C=0.77928
Allele Frequency Aggregator European Sub 59726 A=0.23740 C=0.76260
Allele Frequency Aggregator African Sub 5178 A=0.1089 C=0.8911
Allele Frequency Aggregator South Asian Sub 4968 A=0.2482 C=0.7518
Allele Frequency Aggregator Latin American 2 Sub 3384 A=0.1087 C=0.8913
Allele Frequency Aggregator Other Sub 1828 A=0.1581 C=0.8419
Allele Frequency Aggregator Latin American 1 Sub 392 A=0.151 C=0.849
Allele Frequency Aggregator Asian Sub 234 A=0.081 C=0.919
14KJPN JAPANESE Study-wide 28258 A=0.02406 C=0.97594
8.3KJPN JAPANESE Study-wide 16760 A=0.02339 C=0.97661
1000Genomes_30x Global Study-wide 6404 A=0.1444 C=0.8556
1000Genomes_30x African Sub 1786 A=0.0929 C=0.9071
1000Genomes_30x Europe Sub 1266 A=0.2354 C=0.7646
1000Genomes_30x South Asian Sub 1202 A=0.2304 C=0.7696
1000Genomes_30x East Asian Sub 1170 A=0.0641 C=0.9359
1000Genomes_30x American Sub 980 A=0.111 C=0.889
1000Genomes Global Study-wide 5008 A=0.1468 C=0.8532
1000Genomes African Sub 1322 A=0.0983 C=0.9017
1000Genomes East Asian Sub 1008 A=0.0615 C=0.9385
1000Genomes Europe Sub 1006 A=0.2336 C=0.7664
1000Genomes South Asian Sub 978 A=0.233 C=0.767
1000Genomes American Sub 694 A=0.115 C=0.885
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.2275 C=0.7725
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.2470 C=0.7530
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.2632 C=0.7368
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0177 C=0.9823, G=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.1286 C=0.8714
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.047 C=0.953
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.232 C=0.768
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.163 C=0.837
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.178 C=0.822
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.070 C=0.930
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.019 C=0.981
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.21 C=0.79
HapMap Global Study-wide 1892 A=0.1126 C=0.8874
HapMap American Sub 770 A=0.160 C=0.840
HapMap African Sub 692 A=0.077 C=0.923
HapMap Asian Sub 254 A=0.028 C=0.972
HapMap Europe Sub 176 A=0.170 C=0.830
Korean Genome Project KOREAN Study-wide 1832 A=0.0186 C=0.9814
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.215 C=0.785
Northern Sweden ACPOP Study-wide 600 A=0.310 C=0.690
SGDP_PRJ Global Study-wide 538 A=0.113 C=0.887
Qatari Global Study-wide 216 A=0.162 C=0.838
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.079 C=0.921
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 100 A=0.16 C=0.84
Siberian Global Study-wide 54 A=0.20 C=0.80
The Danish reference pan genome Danish Study-wide 40 A=0.23 C=0.78
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 18 NC_000018.10:g.31360071A>C
GRCh38.p14 chr 18 NC_000018.10:g.31360071A>G
GRCh38.p14 chr 18 NC_000018.10:g.31360071A>T
GRCh37.p13 chr 18 NC_000018.9:g.28940034A>C
GRCh37.p13 chr 18 NC_000018.9:g.28940034A>G
GRCh37.p13 chr 18 NC_000018.9:g.28940034A>T
Gene: DSG1-AS1, DSG1 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DSG1-AS1 transcript variant 1 NR_110788.1:n. N/A Intron Variant
DSG1-AS1 transcript variant 2 NR_110789.1:n. 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 A= C G T
GRCh38.p14 chr 18 NC_000018.10:g.31360071= NC_000018.10:g.31360071A>C NC_000018.10:g.31360071A>G NC_000018.10:g.31360071A>T
GRCh37.p13 chr 18 NC_000018.9:g.28940034= NC_000018.9:g.28940034A>C NC_000018.9:g.28940034A>G NC_000018.9:g.28940034A>T
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#.

101 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17605696 Feb 28, 2004 (120)
2 SSAHASNP ss21461404 Apr 05, 2004 (121)
3 ABI ss44118067 Mar 15, 2006 (126)
4 AFFY ss66192523 Dec 02, 2006 (127)
5 ILLUMINA ss66700829 Dec 02, 2006 (127)
6 ILLUMINA ss66963995 Dec 02, 2006 (127)
7 ILLUMINA ss67130373 Dec 02, 2006 (127)
8 ILLUMINA ss70401424 May 18, 2007 (127)
9 ILLUMINA ss70546358 May 26, 2008 (130)
10 ILLUMINA ss71080051 May 18, 2007 (127)
11 ILLUMINA ss75659726 Dec 06, 2007 (129)
12 AFFY ss76270230 Dec 06, 2007 (129)
13 HGSV ss84469839 Dec 16, 2007 (130)
14 KRIBB_YJKIM ss85154507 Dec 16, 2007 (130)
15 HUMANGENOME_JCVI ss96332684 Feb 06, 2009 (130)
16 BGI ss106537197 Feb 06, 2009 (130)
17 1000GENOMES ss110317954 Jan 24, 2009 (130)
18 1000GENOMES ss114214661 Jan 25, 2009 (130)
19 ILLUMINA-UK ss117826870 Feb 14, 2009 (130)
20 ILLUMINA ss121515470 Dec 01, 2009 (131)
21 ENSEMBL ss136447709 Dec 01, 2009 (131)
22 ILLUMINA ss153082247 Dec 01, 2009 (131)
23 GMI ss155002236 Dec 01, 2009 (131)
24 ILLUMINA ss159193887 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss168001890 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss169426233 Jul 04, 2010 (132)
27 ILLUMINA ss169985028 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss171657731 Jul 04, 2010 (132)
29 ILLUMINA ss171672219 Jul 04, 2010 (132)
30 AFFY ss173053101 Jul 04, 2010 (132)
31 BUSHMAN ss203112995 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208051432 Jul 04, 2010 (132)
33 1000GENOMES ss227798422 Jul 14, 2010 (132)
34 1000GENOMES ss237421614 Jul 15, 2010 (132)
35 1000GENOMES ss243681822 Jul 15, 2010 (132)
36 BL ss255571668 May 09, 2011 (134)
37 GMI ss282949263 May 04, 2012 (137)
38 GMI ss287264300 Apr 25, 2013 (138)
39 PJP ss292150243 May 09, 2011 (134)
40 TISHKOFF ss565572563 Apr 25, 2013 (138)
41 SSMP ss661400785 Apr 25, 2013 (138)
42 ILLUMINA ss825370732 Apr 01, 2015 (144)
43 ILLUMINA ss832706360 Aug 21, 2014 (142)
44 ILLUMINA ss833297049 Aug 21, 2014 (142)
45 EVA-GONL ss993606650 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1081410818 Aug 21, 2014 (142)
47 1000GENOMES ss1360566699 Aug 21, 2014 (142)
48 DDI ss1428182853 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1578355733 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1636626015 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1679620048 Apr 01, 2015 (144)
52 EVA_DECODE ss1697660876 Apr 01, 2015 (144)
53 EVA_SVP ss1713617338 Apr 01, 2015 (144)
54 HAMMER_LAB ss1809001919 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1937081542 Feb 12, 2016 (147)
56 GENOMED ss1968497005 Jul 19, 2016 (147)
57 JJLAB ss2029309876 Sep 14, 2016 (149)
58 USC_VALOUEV ss2157812220 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2220604703 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2629153717 Nov 08, 2017 (151)
61 GRF ss2702396818 Nov 08, 2017 (151)
62 GNOMAD ss2955383592 Nov 08, 2017 (151)
63 SWEGEN ss3016347316 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3028481717 Nov 08, 2017 (151)
65 CSHL ss3351972632 Nov 08, 2017 (151)
66 ILLUMINA ss3638189892 Oct 12, 2018 (152)
67 ILLUMINA ss3639102878 Oct 12, 2018 (152)
68 ILLUMINA ss3639559584 Oct 12, 2018 (152)
69 ILLUMINA ss3643166104 Oct 12, 2018 (152)
70 URBANLAB ss3650768869 Oct 12, 2018 (152)
71 EGCUT_WGS ss3683176058 Jul 13, 2019 (153)
72 EVA_DECODE ss3701439950 Jul 13, 2019 (153)
73 ACPOP ss3742446460 Jul 13, 2019 (153)
74 EVA ss3755248746 Jul 13, 2019 (153)
75 PACBIO ss3788342716 Jul 13, 2019 (153)
76 PACBIO ss3793278375 Jul 13, 2019 (153)
77 PACBIO ss3798164678 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3820517446 Jul 13, 2019 (153)
79 EVA ss3835114611 Apr 27, 2020 (154)
80 EVA ss3841174139 Apr 27, 2020 (154)
81 EVA ss3846675730 Apr 27, 2020 (154)
82 HGDP ss3847579386 Apr 27, 2020 (154)
83 SGDP_PRJ ss3886787667 Apr 27, 2020 (154)
84 KRGDB ss3936634929 Apr 27, 2020 (154)
85 KOGIC ss3979937544 Apr 27, 2020 (154)
86 EVA ss3985818753 Apr 27, 2021 (155)
87 EVA ss4017792255 Apr 27, 2021 (155)
88 TOPMED ss5052564457 Apr 27, 2021 (155)
89 TOMMO_GENOMICS ss5224665092 Apr 27, 2021 (155)
90 1000G_HIGH_COVERAGE ss5304899570 Oct 16, 2022 (156)
91 EVA ss5430682303 Oct 16, 2022 (156)
92 HUGCELL_USP ss5497709271 Oct 16, 2022 (156)
93 1000G_HIGH_COVERAGE ss5609520469 Oct 16, 2022 (156)
94 SANFORD_IMAGENETICS ss5661074324 Oct 16, 2022 (156)
95 TOMMO_GENOMICS ss5782311313 Oct 16, 2022 (156)
96 YY_MCH ss5817001917 Oct 16, 2022 (156)
97 EVA ss5827389881 Oct 16, 2022 (156)
98 EVA ss5852007533 Oct 16, 2022 (156)
99 EVA ss5873619846 Oct 16, 2022 (156)
100 EVA ss5952472543 Oct 16, 2022 (156)
101 EVA ss5981002062 Oct 16, 2022 (156)
102 1000Genomes NC_000018.9 - 28940034 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000018.10 - 31360071 Oct 16, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 28940034 Oct 12, 2018 (152)
105 Genetic variation in the Estonian population NC_000018.9 - 28940034 Oct 12, 2018 (152)
106 The Danish reference pan genome NC_000018.9 - 28940034 Apr 27, 2020 (154)
107 gnomAD - Genomes NC_000018.10 - 31360071 Apr 27, 2021 (155)
108 Genome of the Netherlands Release 5 NC_000018.9 - 28940034 Apr 27, 2020 (154)
109 HGDP-CEPH-db Supplement 1 NC_000018.8 - 27194032 Apr 27, 2020 (154)
110 HapMap NC_000018.10 - 31360071 Apr 27, 2020 (154)
111 KOREAN population from KRGDB NC_000018.9 - 28940034 Apr 27, 2020 (154)
112 Korean Genome Project NC_000018.10 - 31360071 Apr 27, 2020 (154)
113 Northern Sweden NC_000018.9 - 28940034 Jul 13, 2019 (153)
114 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000018.9 - 28940034 Apr 27, 2021 (155)
115 Qatari NC_000018.9 - 28940034 Apr 27, 2020 (154)
116 SGDP_PRJ NC_000018.9 - 28940034 Apr 27, 2020 (154)
117 Siberian NC_000018.9 - 28940034 Apr 27, 2020 (154)
118 8.3KJPN NC_000018.9 - 28940034 Apr 27, 2021 (155)
119 14KJPN NC_000018.10 - 31360071 Oct 16, 2022 (156)
120 TopMed NC_000018.10 - 31360071 Apr 27, 2021 (155)
121 UK 10K study - Twins NC_000018.9 - 28940034 Oct 12, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000018.9 - 28940034 Jul 13, 2019 (153)
123 ALFA NC_000018.10 - 31360071 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).

Associated ID History Updated (Build)
rs61456334 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
257278, ss84469839, ss110317954, ss114214661, ss117826870, ss168001890, ss169426233, ss171657731, ss203112995, ss208051432, ss255571668, ss282949263, ss287264300, ss292150243, ss825370732, ss1697660876, ss1713617338, ss3639102878, ss3639559584, ss3643166104, ss3847579386 NC_000018.8:27194031:A:C NC_000018.10:31360070:A:C (self)
73880360, 40925520, 28914306, 4549730, 18236555, 43812323, 15731325, 1044680, 19123464, 38804647, 10328574, 82634399, 40925520, 9045815, ss227798422, ss237421614, ss243681822, ss565572563, ss661400785, ss832706360, ss833297049, ss993606650, ss1081410818, ss1360566699, ss1428182853, ss1578355733, ss1636626015, ss1679620048, ss1809001919, ss1937081542, ss1968497005, ss2029309876, ss2157812220, ss2629153717, ss2702396818, ss2955383592, ss3016347316, ss3351972632, ss3638189892, ss3683176058, ss3742446460, ss3755248746, ss3788342716, ss3793278375, ss3798164678, ss3835114611, ss3841174139, ss3886787667, ss3936634929, ss3985818753, ss4017792255, ss5224665092, ss5430682303, ss5661074324, ss5827389881, ss5952472543, ss5981002062 NC_000018.9:28940033:A:C NC_000018.10:31360070:A:C (self)
97046404, 521188999, 1577337, 36315545, 116148417, 268110120, 1725132785, ss2220604703, ss3028481717, ss3650768869, ss3701439950, ss3820517446, ss3846675730, ss3979937544, ss5052564457, ss5304899570, ss5497709271, ss5609520469, ss5782311313, ss5817001917, ss5852007533, ss5873619846 NC_000018.10:31360070:A:C NC_000018.10:31360070:A:C (self)
ss17605696, ss21461404 NT_010966.13:10429135:A:C NC_000018.10:31360070:A:C (self)
ss44118067, ss66192523, ss66700829, ss66963995, ss67130373, ss70401424, ss70546358, ss71080051, ss75659726, ss76270230, ss85154507, ss96332684, ss106537197, ss121515470, ss136447709, ss153082247, ss155002236, ss159193887, ss169985028, ss171672219, ss173053101 NT_010966.14:10429135:A:C NC_000018.10:31360070:A:C (self)
43812323, ss3936634929 NC_000018.9:28940033:A:G NC_000018.10:31360070:A:G (self)
43812323, ss3936634929 NC_000018.9:28940033:A:T NC_000018.10:31360070:A: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 rs11876192

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