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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.

rs72730107

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:74290662 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.027681 (7327/264690, TOPMED)
G=0.026324 (3623/137630, GnomAD)
G=0.02316 (334/14420, ALFA) (+ 9 more)
G=0.0236 (118/5008, 1000G)
G=0.0079 (35/4452, Estonian)
G=0.0143 (55/3854, ALSPAC)
G=0.0124 (46/3708, TWINSUK)
G=0.017 (17/998, GoNL)
G=0.033 (20/600, NorthernSweden)
G=0.005 (1/216, Qatari)
A=0.5 (4/8, SGDP_PRJ)
G=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
ABCD4 : 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 14420 A=0.97684 G=0.02316
European Sub 9824 A=0.9885 G=0.0115
African Sub 2946 A=0.9372 G=0.0628
African Others Sub 114 A=0.947 G=0.053
African American Sub 2832 A=0.9368 G=0.0632
Asian Sub 112 A=1.000 G=0.000
East Asian Sub 86 A=1.00 G=0.00
Other Asian Sub 26 A=1.00 G=0.00
Latin American 1 Sub 146 A=0.966 G=0.034
Latin American 2 Sub 610 A=0.987 G=0.013
South Asian Sub 98 A=1.00 G=0.00
Other Sub 684 A=0.966 G=0.034


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=0.972319 G=0.027681
gnomAD - Genomes Global Study-wide 137630 A=0.973676 G=0.026324
gnomAD - Genomes European Sub 74538 A=0.98932 G=0.01068
gnomAD - Genomes African Sub 41092 A=0.93702 G=0.06298
gnomAD - Genomes American Sub 13442 A=0.98713 G=0.01287
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.9952 G=0.0048
gnomAD - Genomes East Asian Sub 3118 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2118 A=0.9764 G=0.0236
Allele Frequency Aggregator Total Global 14420 A=0.97684 G=0.02316
Allele Frequency Aggregator European Sub 9824 A=0.9885 G=0.0115
Allele Frequency Aggregator African Sub 2946 A=0.9372 G=0.0628
Allele Frequency Aggregator Other Sub 684 A=0.966 G=0.034
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.987 G=0.013
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.966 G=0.034
Allele Frequency Aggregator Asian Sub 112 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 A=1.00 G=0.00
1000Genomes Global Study-wide 5008 A=0.9764 G=0.0236
1000Genomes African Sub 1322 A=0.9297 G=0.0703
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=0.9911 G=0.0089
1000Genomes South Asian Sub 978 A=0.997 G=0.003
1000Genomes American Sub 694 A=0.981 G=0.019
Genetic variation in the Estonian population Estonian Study-wide 4452 A=0.9921 G=0.0079
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9857 G=0.0143
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9876 G=0.0124
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.983 G=0.017
Northern Sweden ACPOP Study-wide 600 A=0.967 G=0.033
Qatari Global Study-wide 216 A=0.995 G=0.005
SGDP_PRJ Global Study-wide 8 A=0.5 G=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 14 NC_000014.9:g.74290662A>G
GRCh37.p13 chr 14 NC_000014.8:g.74757365A>G
ABCD4 RefSeqGene NG_032875.1:g.17403T>C
Gene: ABCD4, ATP binding cassette subfamily D member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCD4 transcript variant 6 NM_001353591.2:c.993-163T…

NM_001353591.2:c.993-163T>C

N/A Intron Variant
ABCD4 transcript variant 7 NM_001353592.2:c.993-163T…

NM_001353592.2:c.993-163T>C

N/A Intron Variant
ABCD4 transcript variant 8 NM_001353593.2:c.858-163T…

NM_001353593.2:c.858-163T>C

N/A Intron Variant
ABCD4 transcript variant 9 NM_001353594.2:c.807-163T…

NM_001353594.2:c.807-163T>C

N/A Intron Variant
ABCD4 transcript variant 10 NM_001353595.2:c.705-163T…

NM_001353595.2:c.705-163T>C

N/A Intron Variant
ABCD4 transcript variant 11 NM_001353596.2:c.705-163T…

NM_001353596.2:c.705-163T>C

N/A Intron Variant
ABCD4 transcript variant 12 NM_001353597.2:c.654-163T…

NM_001353597.2:c.654-163T>C

N/A Intron Variant
ABCD4 transcript variant 13 NM_001353598.2:c.642-163T…

NM_001353598.2:c.642-163T>C

N/A Intron Variant
ABCD4 transcript variant 14 NM_001353599.2:c.642-163T…

NM_001353599.2:c.642-163T>C

N/A Intron Variant
ABCD4 transcript variant 15 NM_001353600.2:c.642-163T…

NM_001353600.2:c.642-163T>C

N/A Intron Variant
ABCD4 transcript variant 16 NM_001353601.2:c.642-163T…

NM_001353601.2:c.642-163T>C

N/A Intron Variant
ABCD4 transcript variant 17 NM_001353602.2:c.330-163T…

NM_001353602.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 18 NM_001353603.2:c.330-163T…

NM_001353603.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 19 NM_001353604.2:c.330-163T…

NM_001353604.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 20 NM_001353605.2:c.330-163T…

NM_001353605.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 21 NM_001353606.2:c.330-163T…

NM_001353606.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 22 NM_001353607.2:c.330-163T…

NM_001353607.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 23 NM_001353608.2:c.330-163T…

NM_001353608.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 24 NM_001353609.2:c.330-163T…

NM_001353609.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 25 NM_001353610.2:c.330-163T…

NM_001353610.2:c.330-163T>C

N/A Intron Variant
ABCD4 transcript variant 1 NM_005050.4:c.1119-163T>C N/A Intron Variant
ABCD4 transcript variant 3 NM_020324.3:c.642-163T>C N/A Intron Variant
ABCD4 transcript variant 4 NM_020325.3:c.1119-163T>C N/A Intron Variant
ABCD4 transcript variant 2 NR_003256.3:n. N/A Intron Variant
ABCD4 transcript variant 26 NR_148466.2:n. N/A Intron Variant
ABCD4 transcript variant 27 NR_148467.2:n. N/A Intron Variant
ABCD4 transcript variant 28 NR_148468.2:n. N/A Intron Variant
ABCD4 transcript variant 29 NR_148469.2:n. N/A Intron Variant
ABCD4 transcript variant 30 NR_148470.2:n. N/A Intron Variant
ABCD4 transcript variant 31 NR_148471.2:n. N/A Intron Variant
ABCD4 transcript variant 32 NR_148472.2:n. N/A Intron Variant
ABCD4 transcript variant 33 NR_148473.2:n. N/A Intron Variant
ABCD4 transcript variant 34 NR_148474.2:n. N/A Intron Variant
ABCD4 transcript variant X5 XM_005267942.5:c.705-163T…

XM_005267942.5:c.705-163T>C

N/A Intron Variant
ABCD4 transcript variant X3 XM_011537041.3:c.846-163T…

XM_011537041.3:c.846-163T>C

N/A Intron Variant
ABCD4 transcript variant X1 XM_017021531.3:c.1119-163…

XM_017021531.3:c.1119-163T>C

N/A Intron Variant
ABCD4 transcript variant X7 XM_024449677.2:c.642-163T…

XM_024449677.2:c.642-163T>C

N/A Intron Variant
ABCD4 transcript variant X2 XM_047431637.1:c.1119-163…

XM_047431637.1:c.1119-163T>C

N/A Intron Variant
ABCD4 transcript variant X4 XM_047431639.1:c.1119-163…

XM_047431639.1:c.1119-163T>C

N/A Intron Variant
ABCD4 transcript variant X6 XM_047431640.1:c.1119-163…

XM_047431640.1:c.1119-163T>C

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.

Allele: G (allele ID: 1220911 )
ClinVar Accession Disease Names Clinical Significance
RCV001612005.3 not provided Benign
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= G
GRCh38.p14 chr 14 NC_000014.9:g.74290662= NC_000014.9:g.74290662A>G
GRCh37.p13 chr 14 NC_000014.8:g.74757365= NC_000014.8:g.74757365A>G
ABCD4 RefSeqGene NG_032875.1:g.17403= NG_032875.1:g.17403T>C
ABCD4 transcript variant 6 NM_001353591.2:c.993-163= NM_001353591.2:c.993-163T>C
ABCD4 transcript variant 7 NM_001353592.2:c.993-163= NM_001353592.2:c.993-163T>C
ABCD4 transcript variant 8 NM_001353593.2:c.858-163= NM_001353593.2:c.858-163T>C
ABCD4 transcript variant 9 NM_001353594.2:c.807-163= NM_001353594.2:c.807-163T>C
ABCD4 transcript variant 10 NM_001353595.2:c.705-163= NM_001353595.2:c.705-163T>C
ABCD4 transcript variant 11 NM_001353596.2:c.705-163= NM_001353596.2:c.705-163T>C
ABCD4 transcript variant 12 NM_001353597.2:c.654-163= NM_001353597.2:c.654-163T>C
ABCD4 transcript variant 13 NM_001353598.2:c.642-163= NM_001353598.2:c.642-163T>C
ABCD4 transcript variant 14 NM_001353599.2:c.642-163= NM_001353599.2:c.642-163T>C
ABCD4 transcript variant 15 NM_001353600.2:c.642-163= NM_001353600.2:c.642-163T>C
ABCD4 transcript variant 16 NM_001353601.2:c.642-163= NM_001353601.2:c.642-163T>C
ABCD4 transcript variant 17 NM_001353602.2:c.330-163= NM_001353602.2:c.330-163T>C
ABCD4 transcript variant 18 NM_001353603.2:c.330-163= NM_001353603.2:c.330-163T>C
ABCD4 transcript variant 19 NM_001353604.2:c.330-163= NM_001353604.2:c.330-163T>C
ABCD4 transcript variant 20 NM_001353605.2:c.330-163= NM_001353605.2:c.330-163T>C
ABCD4 transcript variant 21 NM_001353606.2:c.330-163= NM_001353606.2:c.330-163T>C
ABCD4 transcript variant 22 NM_001353607.2:c.330-163= NM_001353607.2:c.330-163T>C
ABCD4 transcript variant 23 NM_001353608.2:c.330-163= NM_001353608.2:c.330-163T>C
ABCD4 transcript variant 24 NM_001353609.2:c.330-163= NM_001353609.2:c.330-163T>C
ABCD4 transcript variant 25 NM_001353610.2:c.330-163= NM_001353610.2:c.330-163T>C
ABCD4 transcript variant 1 NM_005050.3:c.1119-163= NM_005050.3:c.1119-163T>C
ABCD4 transcript variant 1 NM_005050.4:c.1119-163= NM_005050.4:c.1119-163T>C
ABCD4 transcript variant 3 NM_020324.3:c.642-163= NM_020324.3:c.642-163T>C
ABCD4 transcript variant 4 NM_020325.3:c.1119-163= NM_020325.3:c.1119-163T>C
ABCD4 transcript variant X1 XM_005267935.1:c.1068-163= XM_005267935.1:c.1068-163T>C
ABCD4 transcript variant X2 XM_005267936.1:c.1119-163= XM_005267936.1:c.1119-163T>C
ABCD4 transcript variant X3 XM_005267937.1:c.807-163= XM_005267937.1:c.807-163T>C
ABCD4 transcript variant X4 XM_005267938.1:c.1119-163= XM_005267938.1:c.1119-163T>C
ABCD4 transcript variant X5 XM_005267939.1:c.705-163= XM_005267939.1:c.705-163T>C
ABCD4 transcript variant X6 XM_005267940.1:c.705-163= XM_005267940.1:c.705-163T>C
ABCD4 transcript variant X7 XM_005267941.1:c.705-163= XM_005267941.1:c.705-163T>C
ABCD4 transcript variant X8 XM_005267942.1:c.705-163= XM_005267942.1:c.705-163T>C
ABCD4 transcript variant X5 XM_005267942.5:c.705-163= XM_005267942.5:c.705-163T>C
ABCD4 transcript variant X9 XM_005267943.1:c.1119-163= XM_005267943.1:c.1119-163T>C
ABCD4 transcript variant X10 XM_005267944.1:c.642-163= XM_005267944.1:c.642-163T>C
ABCD4 transcript variant X11 XM_005267945.1:c.642-163= XM_005267945.1:c.642-163T>C
ABCD4 transcript variant X12 XM_005267946.1:c.642-163= XM_005267946.1:c.642-163T>C
ABCD4 transcript variant X13 XM_005267947.1:c.642-163= XM_005267947.1:c.642-163T>C
ABCD4 transcript variant X14 XM_005267948.1:c.642-163= XM_005267948.1:c.642-163T>C
ABCD4 transcript variant X15 XM_005267949.1:c.642-163= XM_005267949.1:c.642-163T>C
ABCD4 transcript variant X16 XM_005267950.1:c.642-163= XM_005267950.1:c.642-163T>C
ABCD4 transcript variant X17 XM_005267951.1:c.330-163= XM_005267951.1:c.330-163T>C
ABCD4 transcript variant X18 XM_005267952.1:c.330-163= XM_005267952.1:c.330-163T>C
ABCD4 transcript variant X19 XM_005267953.1:c.330-163= XM_005267953.1:c.330-163T>C
ABCD4 transcript variant X20 XM_005267954.1:c.330-163= XM_005267954.1:c.330-163T>C
ABCD4 transcript variant X3 XM_011537041.3:c.846-163= XM_011537041.3:c.846-163T>C
ABCD4 transcript variant X1 XM_017021531.3:c.1119-163= XM_017021531.3:c.1119-163T>C
ABCD4 transcript variant X7 XM_024449677.2:c.642-163= XM_024449677.2:c.642-163T>C
ABCD4 transcript variant X2 XM_047431637.1:c.1119-163= XM_047431637.1:c.1119-163T>C
ABCD4 transcript variant X4 XM_047431639.1:c.1119-163= XM_047431639.1:c.1119-163T>C
ABCD4 transcript variant X6 XM_047431640.1:c.1119-163= XM_047431640.1:c.1119-163T>C
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#.

31 SubSNP, 11 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss108457058 Feb 13, 2009 (130)
2 COMPLETE_GENOMICS ss169935814 Jul 04, 2010 (132)
3 COMPLETE_GENOMICS ss171321109 Jul 04, 2010 (132)
4 1000GENOMES ss211539128 Jul 14, 2010 (132)
5 1000GENOMES ss226650495 Jul 14, 2010 (132)
6 1000GENOMES ss236602982 Jul 15, 2010 (132)
7 TISHKOFF ss564187377 Apr 25, 2013 (138)
8 EVA-GONL ss991314278 Aug 21, 2014 (142)
9 1000GENOMES ss1351632091 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1632075289 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1675069322 Apr 01, 2015 (144)
12 EVA_DECODE ss1695318251 Apr 01, 2015 (144)
13 WEILL_CORNELL_DGM ss1934684471 Feb 12, 2016 (147)
14 HUMAN_LONGEVITY ss2203282733 Dec 20, 2016 (150)
15 GNOMAD ss2929489926 Nov 08, 2017 (151)
16 EGCUT_WGS ss3679715344 Jul 13, 2019 (153)
17 EVA_DECODE ss3696992096 Jul 13, 2019 (153)
18 ACPOP ss3740522287 Jul 13, 2019 (153)
19 KHV_HUMAN_GENOMES ss3817844503 Jul 13, 2019 (153)
20 EVA ss3840591597 Apr 27, 2020 (154)
21 EVA ss3846081190 Apr 27, 2020 (154)
22 SGDP_PRJ ss3881836219 Apr 27, 2020 (154)
23 TOPMED ss4976093268 Apr 27, 2021 (155)
24 1000G_HIGH_COVERAGE ss5296775811 Oct 16, 2022 (156)
25 EVA ss5416259705 Oct 16, 2022 (156)
26 HUGCELL_USP ss5490766120 Oct 16, 2022 (156)
27 EVA ss5511299346 Oct 16, 2022 (156)
28 SANFORD_IMAGENETICS ss5656533406 Oct 16, 2022 (156)
29 EVA ss5841328507 Oct 16, 2022 (156)
30 EVA ss5901974722 Oct 16, 2022 (156)
31 EVA ss5947981599 Oct 16, 2022 (156)
32 1000Genomes NC_000014.8 - 74757365 Oct 12, 2018 (152)
33 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 74757365 Oct 12, 2018 (152)
34 Genetic variation in the Estonian population NC_000014.8 - 74757365 Oct 12, 2018 (152)
35 gnomAD - Genomes NC_000014.9 - 74290662 Apr 27, 2021 (155)
36 Genome of the Netherlands Release 5 NC_000014.8 - 74757365 Apr 27, 2020 (154)
37 Northern Sweden NC_000014.8 - 74757365 Jul 13, 2019 (153)
38 Qatari NC_000014.8 - 74757365 Apr 27, 2020 (154)
39 SGDP_PRJ NC_000014.8 - 74757365 Apr 27, 2020 (154)
40 TopMed NC_000014.9 - 74290662 Apr 27, 2021 (155)
41 UK 10K study - Twins NC_000014.8 - 74757365 Oct 12, 2018 (152)
42 ALFA NC_000014.9 - 74290662 Apr 27, 2021 (155)
43 ClinVar RCV001612005.3 Oct 16, 2022 (156)
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
ss108457058, ss169935814, ss171321109, ss211539128, ss1695318251 NC_000014.7:73827117:A:G NC_000014.9:74290661:A:G (self)
64636942, 35918654, 25453592, 16040670, 13807152, 16726401, 33853199, 35918654, ss226650495, ss236602982, ss564187377, ss991314278, ss1351632091, ss1632075289, ss1675069322, ss1934684471, ss2929489926, ss3679715344, ss3740522287, ss3840591597, ss3881836219, ss5416259705, ss5511299346, ss5656533406, ss5841328507, ss5947981599 NC_000014.8:74757364:A:G NC_000014.9:74290661:A:G (self)
RCV001612005.3, 455741059, 191638927, 10525895839, ss2203282733, ss3696992096, ss3817844503, ss3846081190, ss4976093268, ss5296775811, ss5490766120, ss5901974722 NC_000014.9:74290661:A:G NC_000014.9:74290661:A:G (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 rs72730107

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