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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.

rs2032348

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:99143096 (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
T=0.120413 (31872/264690, TOPMED)
T=0.109397 (15302/139876, GnomAD)
T=0.190534 (24388/127998, GnomAD_exome) (+ 20 more)
G=0.26718 (7550/28258, 14KJPN)
T=0.12541 (3482/27764, ALFA)
G=0.26462 (4435/16760, 8.3KJPN)
T=0.23647 (2535/10720, ExAC)
T=0.2330 (1492/6404, 1000G_30x)
T=0.2512 (1258/5008, 1000G)
T=0.1165 (522/4480, Estonian)
T=0.1370 (528/3854, ALSPAC)
T=0.1286 (477/3708, TWINSUK)
G=0.3092 (906/2930, KOREAN)
G=0.2942 (539/1832, Korea1K)
T=0.2094 (237/1132, Daghestan)
T=0.127 (127/998, GoNL)
T=0.085 (51/600, NorthernSweden)
T=0.139 (30/216, Qatari)
G=0.210 (45/214, Vietnamese)
G=0.362 (76/210, SGDP_PRJ)
T=0.12 (5/40, GENOME_DK)
G=0.50 (8/16, Siberian)
T=0.50 (8/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ADH4 : Intron Variant
LOC100507053 : 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 27764 G=0.87459 C=0.00000, T=0.12541 0.769846 0.020674 0.20948 16
European Sub 20248 G=0.87095 C=0.00000, T=0.12905 0.759581 0.017681 0.222738 1
African Sub 3510 G=0.9584 C=0.0000, T=0.0416 0.919658 0.002849 0.077493 1
African Others Sub 120 G=0.983 C=0.000, T=0.017 0.966667 0.0 0.033333 0
African American Sub 3390 G=0.9575 C=0.0000, T=0.0425 0.917994 0.00295 0.079056 1
Asian Sub 170 G=0.229 C=0.000, T=0.771 0.023529 0.564706 0.411765 2
East Asian Sub 114 G=0.254 C=0.000, T=0.746 0.017544 0.508772 0.473684 2
Other Asian Sub 56 G=0.18 C=0.00, T=0.82 0.035714 0.678571 0.285714 0
Latin American 1 Sub 146 G=0.870 C=0.000, T=0.130 0.767123 0.027397 0.205479 0
Latin American 2 Sub 610 G=0.889 C=0.000, T=0.111 0.786885 0.009836 0.203279 0
South Asian Sub 100 G=0.66 C=0.00, T=0.34 0.4 0.08 0.52 1
Other Sub 2980 G=0.8419 C=0.0000, T=0.1581 0.714765 0.030872 0.254362 2


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=0.879587 T=0.120413
gnomAD - Genomes Global Study-wide 139876 G=0.890603 T=0.109397
gnomAD - Genomes European Sub 75762 G=0.87791 T=0.12209
gnomAD - Genomes African Sub 41908 G=0.96678 T=0.03322
gnomAD - Genomes American Sub 13618 G=0.89418 T=0.10582
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.8235 T=0.1765
gnomAD - Genomes East Asian Sub 3120 G=0.2561 T=0.7439
gnomAD - Genomes Other Sub 2148 G=0.8547 T=0.1453
gnomAD - Exomes Global Study-wide 127998 G=0.809466 T=0.190534
gnomAD - Exomes European Sub 52868 G=0.87249 T=0.12751
gnomAD - Exomes Asian Sub 32748 G=0.58126 T=0.41874
gnomAD - Exomes American Sub 24240 G=0.92554 T=0.07446
gnomAD - Exomes Ashkenazi Jewish Sub 8074 G=0.8366 T=0.1634
gnomAD - Exomes African Sub 6086 G=0.9754 T=0.0246
gnomAD - Exomes Other Sub 3982 G=0.8343 T=0.1657
14KJPN JAPANESE Study-wide 28258 G=0.26718 T=0.73282
Allele Frequency Aggregator Total Global 27764 G=0.87459 C=0.00000, T=0.12541
Allele Frequency Aggregator European Sub 20248 G=0.87095 C=0.00000, T=0.12905
Allele Frequency Aggregator African Sub 3510 G=0.9584 C=0.0000, T=0.0416
Allele Frequency Aggregator Other Sub 2980 G=0.8419 C=0.0000, T=0.1581
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.889 C=0.000, T=0.111
Allele Frequency Aggregator Asian Sub 170 G=0.229 C=0.000, T=0.771
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.870 C=0.000, T=0.130
Allele Frequency Aggregator South Asian Sub 100 G=0.66 C=0.00, T=0.34
8.3KJPN JAPANESE Study-wide 16760 G=0.26462 T=0.73538
ExAC Global Study-wide 10720 G=0.76353 T=0.23647
ExAC Asian Sub 7612 G=0.7288 T=0.2712
ExAC Europe Sub 2710 G=0.8472 T=0.1528
ExAC African Sub 188 G=0.941 T=0.059
ExAC Other Sub 118 G=0.780 T=0.220
ExAC American Sub 92 G=0.78 T=0.22
1000Genomes_30x Global Study-wide 6404 G=0.7670 T=0.2330
1000Genomes_30x African Sub 1786 G=0.9866 T=0.0134
1000Genomes_30x Europe Sub 1266 G=0.8720 T=0.1280
1000Genomes_30x South Asian Sub 1202 G=0.6913 T=0.3087
1000Genomes_30x East Asian Sub 1170 G=0.2675 T=0.7325
1000Genomes_30x American Sub 980 G=0.920 T=0.080
1000Genomes Global Study-wide 5008 G=0.7488 T=0.2512
1000Genomes African Sub 1322 G=0.9856 T=0.0144
1000Genomes East Asian Sub 1008 G=0.2649 T=0.7351
1000Genomes Europe Sub 1006 G=0.8698 T=0.1302
1000Genomes South Asian Sub 978 G=0.686 T=0.314
1000Genomes American Sub 694 G=0.914 T=0.086
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8835 T=0.1165
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8630 T=0.1370
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8714 T=0.1286
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3092 A=0.0000, C=0.0000, T=0.6908
Korean Genome Project KOREAN Study-wide 1832 G=0.2942 T=0.7058
Genome-wide autozygosity in Daghestan Global Study-wide 1132 G=0.7906 T=0.2094
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.793 T=0.207
Genome-wide autozygosity in Daghestan Near_East Sub 142 G=0.796 T=0.204
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.705 T=0.295
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.898 T=0.102
Genome-wide autozygosity in Daghestan South Asian Sub 96 G=0.77 T=0.23
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.75 T=0.25
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.873 T=0.127
Northern Sweden ACPOP Study-wide 600 G=0.915 T=0.085
Qatari Global Study-wide 216 G=0.861 T=0.139
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.210 T=0.790
SGDP_PRJ Global Study-wide 210 G=0.362 T=0.638
The Danish reference pan genome Danish Study-wide 40 G=0.88 T=0.12
Siberian Global Study-wide 16 G=0.50 T=0.50
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 4 NC_000004.12:g.99143096G>A
GRCh38.p14 chr 4 NC_000004.12:g.99143096G>C
GRCh38.p14 chr 4 NC_000004.12:g.99143096G>T
GRCh37.p13 chr 4 NC_000004.11:g.100064247G>A
GRCh37.p13 chr 4 NC_000004.11:g.100064247G>C
GRCh37.p13 chr 4 NC_000004.11:g.100064247G>T
Gene: ADH4, alcohol dehydrogenase 4 (class II), pi polypeptide (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ADH4 transcript variant 3 NM_000670.5:c.19-316C>T N/A Intron Variant
ADH4 transcript variant 1 NM_001306171.2:c.75+70C>T N/A Intron Variant
ADH4 transcript variant 2 NM_001306172.2:c.75+70C>T N/A Intron Variant
Gene: LOC100507053, uncharacterized LOC100507053 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100507053 transcript NR_037884.1:n. N/A Intron 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 4 NC_000004.12:g.99143096= NC_000004.12:g.99143096G>A NC_000004.12:g.99143096G>C NC_000004.12:g.99143096G>T
GRCh37.p13 chr 4 NC_000004.11:g.100064247= NC_000004.11:g.100064247G>A NC_000004.11:g.100064247G>C NC_000004.11:g.100064247G>T
ADH4 transcript NM_000670.3:c.19-316= NM_000670.3:c.19-316C>T NM_000670.3:c.19-316C>G NM_000670.3:c.19-316C>A
ADH4 transcript variant 3 NM_000670.5:c.19-316= NM_000670.5:c.19-316C>T NM_000670.5:c.19-316C>G NM_000670.5:c.19-316C>A
ADH4 transcript variant 1 NM_001306171.2:c.75+70= NM_001306171.2:c.75+70C>T NM_001306171.2:c.75+70C>G NM_001306171.2:c.75+70C>A
ADH4 transcript variant 2 NM_001306172.2:c.75+70= NM_001306172.2:c.75+70C>T NM_001306172.2:c.75+70C>G NM_001306172.2:c.75+70C>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#.

72 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2941272 Apr 12, 2001 (94)
2 YUSUKE ss3212801 Sep 28, 2001 (100)
3 RIKENSNPRC ss5603222 Dec 12, 2002 (110)
4 CSHL-HAPMAP ss17002565 Feb 27, 2004 (120)
5 EGP_SNPS ss35527939 May 25, 2005 (125)
6 ABI ss44531729 Mar 15, 2006 (126)
7 SI_EXO ss52073292 Oct 14, 2006 (127)
8 BCMHGSC_JDW ss92702991 Mar 24, 2008 (129)
9 BGI ss104098926 Dec 01, 2009 (131)
10 KRIBB_YJKIM ss104797132 Feb 03, 2009 (130)
11 ENSEMBL ss139781775 Dec 01, 2009 (131)
12 GMI ss157649893 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss166943163 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss206559668 Jul 04, 2010 (132)
15 1000GENOMES ss232514848 Jul 14, 2010 (132)
16 1000GENOMES ss239779992 Jul 15, 2010 (132)
17 GMI ss277844121 May 04, 2012 (137)
18 PJP ss293147348 May 09, 2011 (134)
19 TISHKOFF ss557720733 Apr 25, 2013 (138)
20 SSMP ss651525325 Apr 25, 2013 (138)
21 EVA-GONL ss980449360 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1071786658 Aug 21, 2014 (142)
23 1000GENOMES ss1310977443 Aug 21, 2014 (142)
24 HAMMER_LAB ss1397383462 Sep 08, 2015 (146)
25 EVA_GENOME_DK ss1580687122 Apr 01, 2015 (144)
26 EVA_DECODE ss1589953365 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1610734904 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1653728937 Apr 01, 2015 (144)
29 EVA_EXAC ss1687582904 Apr 01, 2015 (144)
30 WEILL_CORNELL_DGM ss1923689538 Feb 12, 2016 (147)
31 GENOMED ss1969816671 Jul 19, 2016 (147)
32 JJLAB ss2022430686 Sep 14, 2016 (149)
33 USC_VALOUEV ss2150559841 Dec 20, 2016 (150)
34 HUMAN_LONGEVITY ss2265420002 Dec 20, 2016 (150)
35 SYSTEMSBIOZJU ss2625714321 Nov 08, 2017 (151)
36 GRF ss2706036803 Nov 08, 2017 (151)
37 GNOMAD ss2734647627 Nov 08, 2017 (151)
38 GNOMAD ss2747278247 Nov 08, 2017 (151)
39 GNOMAD ss2812847123 Nov 08, 2017 (151)
40 SWEGEN ss2995209420 Nov 08, 2017 (151)
41 BIOINF_KMB_FNS_UNIBA ss3024990590 Nov 08, 2017 (151)
42 CSHL ss3345861487 Nov 08, 2017 (151)
43 OMUKHERJEE_ADBS ss3646310643 Oct 12, 2018 (152)
44 EGCUT_WGS ss3663105126 Jul 13, 2019 (153)
45 EVA_DECODE ss3712655621 Jul 13, 2019 (153)
46 ACPOP ss3731421203 Jul 13, 2019 (153)
47 EVA ss3762166442 Jul 13, 2019 (153)
48 KHV_HUMAN_GENOMES ss3805314810 Jul 13, 2019 (153)
49 EVA ss3828703174 Apr 26, 2020 (154)
50 SGDP_PRJ ss3859609379 Apr 26, 2020 (154)
51 KRGDB ss3905886759 Apr 26, 2020 (154)
52 KOGIC ss3954741282 Apr 26, 2020 (154)
53 FSA-LAB ss3984289883 Apr 26, 2021 (155)
54 EVA ss3986287191 Apr 26, 2021 (155)
55 TOPMED ss4624616632 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5167075864 Apr 26, 2021 (155)
57 EVA ss5237182979 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5260286607 Oct 13, 2022 (156)
59 EVA ss5350972630 Oct 13, 2022 (156)
60 HUGCELL_USP ss5458929207 Oct 13, 2022 (156)
61 EVA ss5507641150 Oct 13, 2022 (156)
62 1000G_HIGH_COVERAGE ss5541953232 Oct 13, 2022 (156)
63 SANFORD_IMAGENETICS ss5635664484 Oct 13, 2022 (156)
64 TOMMO_GENOMICS ss5701806276 Oct 13, 2022 (156)
65 EVA ss5800053092 Oct 13, 2022 (156)
66 EVA ss5800117005 Oct 13, 2022 (156)
67 YY_MCH ss5805353582 Oct 13, 2022 (156)
68 EVA ss5844423303 Oct 13, 2022 (156)
69 EVA ss5848613585 Oct 13, 2022 (156)
70 EVA ss5854355737 Oct 13, 2022 (156)
71 EVA ss5864674756 Oct 13, 2022 (156)
72 EVA ss5964055064 Oct 13, 2022 (156)
73 1000Genomes NC_000004.11 - 100064247 Oct 12, 2018 (152)
74 1000Genomes_30x NC_000004.12 - 99143096 Oct 13, 2022 (156)
75 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 100064247 Oct 12, 2018 (152)
76 Genome-wide autozygosity in Daghestan NC_000004.10 - 100283270 Apr 26, 2020 (154)
77 Genetic variation in the Estonian population NC_000004.11 - 100064247 Oct 12, 2018 (152)
78 ExAC NC_000004.11 - 100064247 Oct 12, 2018 (152)
79 The Danish reference pan genome NC_000004.11 - 100064247 Apr 26, 2020 (154)
80 gnomAD - Genomes NC_000004.12 - 99143096 Apr 26, 2021 (155)
81 gnomAD - Exomes NC_000004.11 - 100064247 Jul 13, 2019 (153)
82 Genome of the Netherlands Release 5 NC_000004.11 - 100064247 Apr 26, 2020 (154)
83 KOREAN population from KRGDB NC_000004.11 - 100064247 Apr 26, 2020 (154)
84 Korean Genome Project NC_000004.12 - 99143096 Apr 26, 2020 (154)
85 Northern Sweden NC_000004.11 - 100064247 Jul 13, 2019 (153)
86 Qatari NC_000004.11 - 100064247 Apr 26, 2020 (154)
87 SGDP_PRJ NC_000004.11 - 100064247 Apr 26, 2020 (154)
88 Siberian NC_000004.11 - 100064247 Apr 26, 2020 (154)
89 8.3KJPN NC_000004.11 - 100064247 Apr 26, 2021 (155)
90 14KJPN NC_000004.12 - 99143096 Oct 13, 2022 (156)
91 TopMed NC_000004.12 - 99143096 Apr 26, 2021 (155)
92 UK 10K study - Twins NC_000004.11 - 100064247 Oct 12, 2018 (152)
93 A Vietnamese Genetic Variation Database NC_000004.11 - 100064247 Jul 13, 2019 (153)
94 ALFA NC_000004.12 - 99143096 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13064153, ss3905886759 NC_000004.11:100064246:G:A NC_000004.12:99143095:G:A (self)
13064153, ss3905886759 NC_000004.11:100064246:G:C NC_000004.12:99143095:G:C (self)
9812096580 NC_000004.12:99143095:G:C NC_000004.12:99143095:G:C (self)
358865, ss92702991, ss166943163, ss206559668, ss277844121, ss293147348, ss1397383462, ss1589953365 NC_000004.10:100283269:G:T NC_000004.12:99143095:G:T (self)
22419547, 12470959, 8843374, 7554906, 6852061, 3755443, 5512848, 13064153, 4706068, 5731468, 11626359, 3076195, 25045171, 12470959, 2744094, ss232514848, ss239779992, ss557720733, ss651525325, ss980449360, ss1071786658, ss1310977443, ss1580687122, ss1610734904, ss1653728937, ss1687582904, ss1923689538, ss1969816671, ss2022430686, ss2150559841, ss2625714321, ss2706036803, ss2734647627, ss2747278247, ss2812847123, ss2995209420, ss3345861487, ss3646310643, ss3663105126, ss3731421203, ss3762166442, ss3828703174, ss3859609379, ss3905886759, ss3984289883, ss3986287191, ss5167075864, ss5350972630, ss5507641150, ss5635664484, ss5800053092, ss5800117005, ss5844423303, ss5848613585, ss5964055064 NC_000004.11:100064246:G:T NC_000004.12:99143095:G:T (self)
29479167, 158814653, 11119283, 35643380, 461994188, 9812096580, ss2265420002, ss3024990590, ss3712655621, ss3805314810, ss3954741282, ss4624616632, ss5237182979, ss5260286607, ss5458929207, ss5541953232, ss5701806276, ss5805353582, ss5854355737, ss5864674756 NC_000004.12:99143095:G:T NC_000004.12:99143095:G:T (self)
ss17002565 NT_016354.16:24558950:G:T NC_000004.12:99143095:G:T (self)
ss52073292 NT_016354.17:24558950:G:T NC_000004.12:99143095:G:T (self)
ss2941272, ss3212801, ss5603222, ss35527939, ss44531729, ss104098926, ss104797132, ss139781775, ss157649893 NT_016354.19:24611967:G:T NC_000004.12:99143095: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 rs2032348

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