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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.

rs1654

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:17115498 (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
G=0.157973 (41814/264690, TOPMED)
G=0.163192 (22875/140172, GnomAD)
G=0.19425 (5489/28258, 14KJPN) (+ 16 more)
G=0.19418 (3254/16758, 8.3KJPN)
G=0.1971 (1682/8534, ALFA)
G=0.1616 (1035/6404, 1000G_30x)
G=0.1631 (817/5008, 1000G)
G=0.1653 (740/4476, Estonian)
G=0.1725 (665/3854, ALSPAC)
G=0.1802 (668/3708, TWINSUK)
G=0.1614 (473/2930, KOREAN)
G=0.1488 (264/1774, HapMap)
G=0.176 (176/998, GoNL)
G=0.090 (54/600, NorthernSweden)
G=0.107 (58/544, SGDP_PRJ)
G=0.181 (39/216, Qatari)
G=0.167 (35/210, Vietnamese)
G=0.13 (7/52, Siberian)
G=0.25 (10/40, GENOME_DK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
IL17RA : 3 Prime UTR 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 8534 G=0.1971 C=0.8029, T=0.0000
European Sub 7582 G=0.1976 C=0.8024, T=0.0000
African Sub 682 G=0.169 C=0.831, T=0.000
African Others Sub 30 G=0.17 C=0.83, T=0.00
African American Sub 652 G=0.169 C=0.831, T=0.000
Asian Sub 10 G=0.6 C=0.4, T=0.0
East Asian Sub 4 G=0.5 C=0.5, T=0.0
Other Asian Sub 6 G=0.7 C=0.3, T=0.0
Latin American 1 Sub 4 G=1.0 C=0.0, T=0.0
Latin American 2 Sub 12 G=1.00 C=0.00, T=0.00
South Asian Sub 8 G=0.6 C=0.4, T=0.0
Other Sub 236 G=0.178 C=0.822, T=0.000


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=0.157973 C=0.842027
gnomAD - Genomes Global Study-wide 140172 G=0.163192 C=0.836808
gnomAD - Genomes European Sub 75906 G=0.17920 C=0.82080
gnomAD - Genomes African Sub 42012 G=0.13444 C=0.86556
gnomAD - Genomes American Sub 13650 G=0.15663 C=0.84337
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.1871 C=0.8129
gnomAD - Genomes East Asian Sub 3130 G=0.1565 C=0.8435
gnomAD - Genomes Other Sub 2150 G=0.1744 C=0.8256
14KJPN JAPANESE Study-wide 28258 G=0.19425 C=0.80575
8.3KJPN JAPANESE Study-wide 16758 G=0.19418 C=0.80582
Allele Frequency Aggregator Total Global 8534 G=0.1971 C=0.8029, T=0.0000
Allele Frequency Aggregator European Sub 7582 G=0.1976 C=0.8024, T=0.0000
Allele Frequency Aggregator African Sub 682 G=0.169 C=0.831, T=0.000
Allele Frequency Aggregator Other Sub 236 G=0.178 C=0.822, T=0.000
Allele Frequency Aggregator Latin American 2 Sub 12 G=1.00 C=0.00, T=0.00
Allele Frequency Aggregator Asian Sub 10 G=0.6 C=0.4, T=0.0
Allele Frequency Aggregator South Asian Sub 8 G=0.6 C=0.4, T=0.0
Allele Frequency Aggregator Latin American 1 Sub 4 G=1.0 C=0.0, T=0.0
1000Genomes_30x Global Study-wide 6404 G=0.1616 C=0.8384
1000Genomes_30x African Sub 1786 G=0.1349 C=0.8651
1000Genomes_30x Europe Sub 1266 G=0.2077 C=0.7923
1000Genomes_30x South Asian Sub 1202 G=0.1755 C=0.8245
1000Genomes_30x East Asian Sub 1170 G=0.1735 C=0.8265
1000Genomes_30x American Sub 980 G=0.119 C=0.881
1000Genomes Global Study-wide 5008 G=0.1631 C=0.8369
1000Genomes African Sub 1322 G=0.1346 C=0.8654
1000Genomes East Asian Sub 1008 G=0.1746 C=0.8254
1000Genomes Europe Sub 1006 G=0.2018 C=0.7982
1000Genomes South Asian Sub 978 G=0.180 C=0.820
1000Genomes American Sub 694 G=0.121 C=0.879
Genetic variation in the Estonian population Estonian Study-wide 4476 G=0.1653 C=0.8347
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.1725 C=0.8275
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1802 C=0.8198
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.1614 A=0.0000, C=0.8386, T=0.0000
HapMap Global Study-wide 1774 G=0.1488 C=0.8512
HapMap African Sub 684 G=0.092 C=0.908
HapMap American Sub 660 G=0.173 C=0.827
HapMap Asian Sub 254 G=0.197 C=0.803
HapMap Europe Sub 176 G=0.210 C=0.790
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.176 C=0.824
Northern Sweden ACPOP Study-wide 600 G=0.090 C=0.910
SGDP_PRJ Global Study-wide 544 G=0.107 C=0.893
Qatari Global Study-wide 216 G=0.181 C=0.819
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.167 C=0.833
Siberian Global Study-wide 52 G=0.13 C=0.87
The Danish reference pan genome Danish Study-wide 40 G=0.25 C=0.75
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 22 NC_000022.11:g.17115498G>A
GRCh38.p14 chr 22 NC_000022.11:g.17115498G>C
GRCh38.p14 chr 22 NC_000022.11:g.17115498G>T
GRCh37.p13 chr 22 NC_000022.10:g.17596388G>A
GRCh37.p13 chr 22 NC_000022.10:g.17596388G>C
GRCh37.p13 chr 22 NC_000022.10:g.17596388G>T
IL17RA RefSeqGene (LRG_355) NG_028257.1:g.35538G>A
IL17RA RefSeqGene (LRG_355) NG_028257.1:g.35538G>C
IL17RA RefSeqGene (LRG_355) NG_028257.1:g.35538G>T
Gene: IL17RA, interleukin 17 receptor A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL17RA transcript variant 1 NM_014339.7:c.*5678= N/A 3 Prime UTR Variant
IL17RA transcript variant 2 NM_001289905.2:c.*5678= N/A 3 Prime UTR 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: C (allele ID: 351104 )
ClinVar Accession Disease Names Clinical Significance
RCV000367325.3 Familial Candidiasis, Recessive 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 G= A C T
GRCh38.p14 chr 22 NC_000022.11:g.17115498= NC_000022.11:g.17115498G>A NC_000022.11:g.17115498G>C NC_000022.11:g.17115498G>T
GRCh37.p13 chr 22 NC_000022.10:g.17596388= NC_000022.10:g.17596388G>A NC_000022.10:g.17596388G>C NC_000022.10:g.17596388G>T
IL17RA RefSeqGene (LRG_355) NG_028257.1:g.35538= NG_028257.1:g.35538G>A NG_028257.1:g.35538G>C NG_028257.1:g.35538G>T
IL17RA transcript variant 1 NM_014339.7:c.*5678= NM_014339.7:c.*5678G>A NM_014339.7:c.*5678G>C NM_014339.7:c.*5678G>T
IL17RA transcript variant 1 NM_014339.6:c.*5678= NM_014339.6:c.*5678G>A NM_014339.6:c.*5678G>C NM_014339.6:c.*5678G>T
IL17RA transcript variant 2 NM_001289905.2:c.*5678= NM_001289905.2:c.*5678G>A NM_001289905.2:c.*5678G>C NM_001289905.2:c.*5678G>T
IL17RA transcript variant 2 NM_001289905.1:c.*5678= NM_001289905.1:c.*5678G>A NM_001289905.1:c.*5678G>C NM_001289905.1:c.*5678G>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#.

96 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF ss1679 Sep 19, 2000 (36)
2 TSC-CSHL ss85194 Oct 04, 2000 (92)
3 LEE ss1520361 Oct 04, 2000 (92)
4 CGAP-GAI ss4322068 Jan 04, 2002 (102)
5 LEE ss4393523 May 29, 2002 (106)
6 LEE ss4412176 May 29, 2002 (106)
7 SC_SNP ss7995158 Apr 21, 2003 (114)
8 BCM_SSAHASNP ss11004080 Jul 11, 2003 (116)
9 WI_SSAHASNP ss12527436 Jul 11, 2003 (116)
10 SC_SNP ss13347875 Dec 05, 2003 (119)
11 CGAP-GAI ss16242560 Feb 27, 2004 (120)
12 CSHL-HAPMAP ss17721617 Feb 27, 2004 (120)
13 SSAHASNP ss21839922 Apr 05, 2004 (121)
14 ABI ss44309546 Mar 13, 2006 (126)
15 KRIBB_YJKIM ss65824222 Nov 29, 2006 (127)
16 AFFY ss66187447 Nov 29, 2006 (127)
17 PERLEGEN ss69277670 May 16, 2007 (127)
18 AFFY ss76259529 Dec 08, 2007 (130)
19 HGSV ss81253369 Dec 15, 2007 (130)
20 KRIBB_YJKIM ss81403907 Dec 15, 2007 (130)
21 HGSV ss81715661 Dec 15, 2007 (130)
22 HGSV ss82156819 Dec 15, 2007 (130)
23 HGSV ss84622524 Dec 15, 2007 (130)
24 BCMHGSC_JDW ss91870904 Mar 24, 2008 (129)
25 HUMANGENOME_JCVI ss96091802 Feb 06, 2009 (130)
26 BGI ss103838775 Dec 01, 2009 (131)
27 1000GENOMES ss112538187 Jan 25, 2009 (130)
28 1000GENOMES ss114009703 Jan 25, 2009 (130)
29 ILLUMINA-UK ss117356094 Feb 14, 2009 (130)
30 ENSEMBL ss138332387 Dec 01, 2009 (131)
31 ENSEMBL ss142888262 Dec 01, 2009 (131)
32 GMI ss157009693 Dec 01, 2009 (131)
33 COMPLETE_GENOMICS ss167649756 Jul 04, 2010 (132)
34 COMPLETE_GENOMICS ss168839836 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss171811560 Jul 04, 2010 (132)
36 AFFY ss173011782 Jul 04, 2010 (132)
37 BUSHMAN ss204044608 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss208843108 Jul 04, 2010 (132)
39 1000GENOMES ss228609251 Jul 14, 2010 (132)
40 1000GENOMES ss238015619 Jul 15, 2010 (132)
41 1000GENOMES ss244146311 Jul 15, 2010 (132)
42 BL ss255833006 May 09, 2011 (134)
43 GMI ss283579156 May 04, 2012 (137)
44 GMI ss287547173 Apr 25, 2013 (138)
45 PJP ss292732754 May 09, 2011 (134)
46 TISHKOFF ss566548656 Apr 25, 2013 (138)
47 SSMP ss662469698 Apr 25, 2013 (138)
48 EVA-GONL ss995203453 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1082557389 Aug 21, 2014 (142)
50 1000GENOMES ss1366612396 Aug 21, 2014 (142)
51 DDI ss1429213370 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1579696693 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1639720288 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1682714321 Apr 01, 2015 (144)
55 EVA_DECODE ss1699272907 Apr 01, 2015 (144)
56 EVA_SVP ss1713729796 Apr 01, 2015 (144)
57 HAMMER_LAB ss1809725297 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1938762453 Feb 12, 2016 (147)
59 GENOMED ss1969243247 Jul 19, 2016 (147)
60 JJLAB ss2030154479 Sep 14, 2016 (149)
61 ILLUMINA ss2095120805 Dec 20, 2016 (150)
62 USC_VALOUEV ss2158762970 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2629575333 Nov 08, 2017 (151)
64 GRF ss2704503085 Nov 08, 2017 (151)
65 GNOMAD ss2972768457 Nov 08, 2017 (151)
66 SWEGEN ss3019048873 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3028915450 Nov 08, 2017 (151)
68 CSHL ss3352765593 Nov 08, 2017 (151)
69 URBANLAB ss3651147117 Oct 12, 2018 (152)
70 ILLUMINA ss3652630921 Oct 12, 2018 (152)
71 EGCUT_WGS ss3685590893 Jul 13, 2019 (153)
72 EVA_DECODE ss3707917123 Jul 13, 2019 (153)
73 ACPOP ss3743805850 Jul 13, 2019 (153)
74 EVA ss3759208192 Jul 13, 2019 (153)
75 PACBIO ss3788787512 Jul 13, 2019 (153)
76 PACBIO ss3793659250 Jul 13, 2019 (153)
77 PACBIO ss3798545545 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3822375047 Jul 13, 2019 (153)
79 EVA ss3835917661 Apr 27, 2020 (154)
80 EVA ss3841587638 Apr 27, 2020 (154)
81 EVA ss3847102409 Apr 27, 2020 (154)
82 SGDP_PRJ ss3890209454 Apr 27, 2020 (154)
83 KRGDB ss3940585077 Apr 27, 2020 (154)
84 TOPMED ss5104534536 Apr 27, 2021 (155)
85 TOMMO_GENOMICS ss5231945753 Apr 27, 2021 (155)
86 1000G_HIGH_COVERAGE ss5310592495 Oct 13, 2022 (156)
87 EVA ss5440411028 Oct 13, 2022 (156)
88 HUGCELL_USP ss5502514166 Oct 13, 2022 (156)
89 1000G_HIGH_COVERAGE ss5617920646 Oct 13, 2022 (156)
90 SANFORD_IMAGENETICS ss5664194288 Oct 13, 2022 (156)
91 TOMMO_GENOMICS ss5792860258 Oct 13, 2022 (156)
92 YY_MCH ss5818576744 Oct 13, 2022 (156)
93 EVA ss5821873616 Oct 13, 2022 (156)
94 EVA ss5853338658 Oct 13, 2022 (156)
95 EVA ss5881281893 Oct 13, 2022 (156)
96 EVA ss5959072431 Oct 13, 2022 (156)
97 1000Genomes NC_000022.10 - 17596388 Oct 12, 2018 (152)
98 1000Genomes_30x NC_000022.11 - 17115498 Oct 13, 2022 (156)
99 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 17596388 Oct 12, 2018 (152)
100 Genetic variation in the Estonian population NC_000022.10 - 17596388 Oct 12, 2018 (152)
101 The Danish reference pan genome NC_000022.10 - 17596388 Apr 27, 2020 (154)
102 gnomAD - Genomes NC_000022.11 - 17115498 Apr 27, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000022.10 - 17596388 Apr 27, 2020 (154)
104 HapMap NC_000022.11 - 17115498 Apr 27, 2020 (154)
105 KOREAN population from KRGDB NC_000022.10 - 17596388 Apr 27, 2020 (154)
106 Northern Sweden NC_000022.10 - 17596388 Jul 13, 2019 (153)
107 Qatari NC_000022.10 - 17596388 Apr 27, 2020 (154)
108 SGDP_PRJ NC_000022.10 - 17596388 Apr 27, 2020 (154)
109 Siberian NC_000022.10 - 17596388 Apr 27, 2020 (154)
110 8.3KJPN NC_000022.10 - 17596388 Apr 27, 2021 (155)
111 14KJPN NC_000022.11 - 17115498 Oct 13, 2022 (156)
112 TopMed NC_000022.11 - 17115498 Apr 27, 2021 (155)
113 UK 10K study - Twins NC_000022.10 - 17596388 Oct 12, 2018 (152)
114 A Vietnamese Genetic Variation Database NC_000022.10 - 17596388 Jul 13, 2019 (153)
115 ALFA NC_000022.11 - 17115498 Apr 27, 2021 (155)
116 ClinVar RCV000367325.3 Oct 13, 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).

Associated ID History Updated (Build)
rs712976 Jan 18, 2001 (92)
rs3171594 Jul 03, 2002 (106)
rs56633973 May 26, 2008 (130)
rs59522881 Feb 27, 2009 (130)
rs60555913 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
47762471, ss3940585077 NC_000022.10:17596387:G:A NC_000022.11:17115497:G:A (self)
ss81253369, ss81715661, ss82156819, ss84622524 NC_000022.8:15970941:G:C NC_000022.11:17115497:G:C (self)
ss66187447, ss76259529, ss91870904, ss112538187, ss114009703, ss117356094, ss167649756, ss168839836, ss171811560, ss173011782, ss204044608, ss208843108, ss255833006, ss283579156, ss287547173, ss292732754, ss1699272907, ss1713729796 NC_000022.9:15976387:G:C NC_000022.11:17115497:G:C (self)
80144087, 44344635, 31329141, 5861632, 19755919, 47762471, 17090715, 20804375, 42226434, 11279324, 89915060, 44344635, 9783948, ss228609251, ss238015619, ss244146311, ss566548656, ss662469698, ss995203453, ss1082557389, ss1366612396, ss1429213370, ss1579696693, ss1639720288, ss1682714321, ss1809725297, ss1938762453, ss1969243247, ss2030154479, ss2095120805, ss2158762970, ss2629575333, ss2704503085, ss2972768457, ss3019048873, ss3352765593, ss3652630921, ss3685590893, ss3743805850, ss3759208192, ss3788787512, ss3793659250, ss3798545545, ss3835917661, ss3841587638, ss3890209454, ss3940585077, ss5231945753, ss5440411028, ss5664194288, ss5821873616, ss5959072431 NC_000022.10:17596387:G:C NC_000022.11:17115497:G:C (self)
RCV000367325.3, 105446581, 566022608, 2224473, 126697362, 379643483, 2746221749, ss3028915450, ss3651147117, ss3707917123, ss3822375047, ss3847102409, ss5104534536, ss5310592495, ss5502514166, ss5617920646, ss5792860258, ss5818576744, ss5853338658, ss5881281893 NC_000022.11:17115497:G:C NC_000022.11:17115497:G:C (self)
ss1679, ss85194, ss1520361, ss4322068, ss4393523, ss4412176, ss7995158, ss11004080, ss12527436, ss13347875, ss16242560, ss17721617, ss21839922, ss44309546, ss65824222, ss69277670, ss81403907, ss96091802, ss103838775, ss138332387, ss142888262, ss157009693 NT_011519.10:748537:G:C NC_000022.11:17115497:G:C (self)
47762471, ss3940585077 NC_000022.10:17596387:G:T NC_000022.11:17115497:G:T (self)
2746221749 NC_000022.11:17115497:G:T NC_000022.11:17115497: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 rs1654

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