Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs60613692

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:19783571-19783586 (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(AAAC)2 / delAAAC / dupAAAC
Variation Type
Indel Insertion and Deletion
Frequency
delAAAC=0.07736 (2186/28258, 14KJPN)
delAAAC=0.07625 (1278/16760, 8.3KJPN)
delAAAC=0.06015 (832/13832, ALFA) (+ 8 more)
delAAAC=0.1932 (1237/6404, 1000G_30x)
delAAAC=0.2001 (1002/5008, 1000G)
delAAAC=0.1956 (754/3854, ALSPAC)
delAAAC=0.1891 (701/3708, TWINSUK)
delAAAC=0.0830 (152/1832, Korea1K)
delAAAC=0.170 (170/998, GoNL)
delAAAC=0.192 (115/600, NorthernSweden)
delAAAC=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TBX1 : 3 Prime UTR Variant
GNB1L : 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 13832 AAACAAACAAACAAAC=0.93985 AAACAAAC=0.00000, AAACAAACAAAC=0.06015, AAACAAACAAACAAACAAAC=0.00000
European Sub 10826 AAACAAACAAACAAAC=0.92343 AAACAAAC=0.00000, AAACAAACAAAC=0.07657, AAACAAACAAACAAACAAAC=0.00000
African Sub 2006 AAACAAACAAACAAAC=1.0000 AAACAAAC=0.0000, AAACAAACAAAC=0.0000, AAACAAACAAACAAACAAAC=0.0000
African Others Sub 78 AAACAAACAAACAAAC=1.00 AAACAAAC=0.00, AAACAAACAAAC=0.00, AAACAAACAAACAAACAAAC=0.00
African American Sub 1928 AAACAAACAAACAAAC=1.0000 AAACAAAC=0.0000, AAACAAACAAAC=0.0000, AAACAAACAAACAAACAAAC=0.0000
Asian Sub 88 AAACAAACAAACAAAC=1.00 AAACAAAC=0.00, AAACAAACAAAC=0.00, AAACAAACAAACAAACAAAC=0.00
East Asian Sub 66 AAACAAACAAACAAAC=1.00 AAACAAAC=0.00, AAACAAACAAAC=0.00, AAACAAACAAACAAACAAAC=0.00
Other Asian Sub 22 AAACAAACAAACAAAC=1.00 AAACAAAC=0.00, AAACAAACAAAC=0.00, AAACAAACAAACAAACAAAC=0.00
Latin American 1 Sub 86 AAACAAACAAACAAAC=1.00 AAACAAAC=0.00, AAACAAACAAAC=0.00, AAACAAACAAACAAACAAAC=0.00
Latin American 2 Sub 446 AAACAAACAAACAAAC=1.000 AAACAAAC=0.000, AAACAAACAAAC=0.000, AAACAAACAAACAAACAAAC=0.000
South Asian Sub 54 AAACAAACAAACAAAC=1.00 AAACAAAC=0.00, AAACAAACAAAC=0.00, AAACAAACAAACAAACAAAC=0.00
Other Sub 326 AAACAAACAAACAAAC=0.991 AAACAAAC=0.000, AAACAAACAAAC=0.009, AAACAAACAAACAAACAAAC=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
14KJPN JAPANESE Study-wide 28258 (AAAC)4=0.92264 delAAAC=0.07736
8.3KJPN JAPANESE Study-wide 16760 (AAAC)4=0.92375 delAAAC=0.07625
Allele Frequency Aggregator Total Global 13832 (AAAC)4=0.93985 del(AAAC)2=0.00000, delAAAC=0.06015, dupAAAC=0.00000
Allele Frequency Aggregator European Sub 10826 (AAAC)4=0.92343 del(AAAC)2=0.00000, delAAAC=0.07657, dupAAAC=0.00000
Allele Frequency Aggregator African Sub 2006 (AAAC)4=1.0000 del(AAAC)2=0.0000, delAAAC=0.0000, dupAAAC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 446 (AAAC)4=1.000 del(AAAC)2=0.000, delAAAC=0.000, dupAAAC=0.000
Allele Frequency Aggregator Other Sub 326 (AAAC)4=0.991 del(AAAC)2=0.000, delAAAC=0.009, dupAAAC=0.000
Allele Frequency Aggregator Asian Sub 88 (AAAC)4=1.00 del(AAAC)2=0.00, delAAAC=0.00, dupAAAC=0.00
Allele Frequency Aggregator Latin American 1 Sub 86 (AAAC)4=1.00 del(AAAC)2=0.00, delAAAC=0.00, dupAAAC=0.00
Allele Frequency Aggregator South Asian Sub 54 (AAAC)4=1.00 del(AAAC)2=0.00, delAAAC=0.00, dupAAAC=0.00
1000Genomes_30x Global Study-wide 6404 (AAAC)4=0.8068 delAAAC=0.1932
1000Genomes_30x African Sub 1786 (AAAC)4=0.8141 delAAAC=0.1859
1000Genomes_30x Europe Sub 1266 (AAAC)4=0.8341 delAAAC=0.1659
1000Genomes_30x South Asian Sub 1202 (AAAC)4=0.6697 delAAAC=0.3303
1000Genomes_30x East Asian Sub 1170 (AAAC)4=0.8957 delAAAC=0.1043
1000Genomes_30x American Sub 980 (AAAC)4=0.820 delAAAC=0.180
1000Genomes Global Study-wide 5008 (AAAC)4=0.7999 delAAAC=0.2001
1000Genomes African Sub 1322 (AAAC)4=0.8094 delAAAC=0.1906
1000Genomes East Asian Sub 1008 (AAAC)4=0.8859 delAAAC=0.1141
1000Genomes Europe Sub 1006 (AAAC)4=0.8280 delAAAC=0.1720
1000Genomes South Asian Sub 978 (AAAC)4=0.661 delAAAC=0.339
1000Genomes American Sub 694 (AAAC)4=0.813 delAAAC=0.187
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (AAAC)4=0.8044 delAAAC=0.1956
UK 10K study - Twins TWIN COHORT Study-wide 3708 (AAAC)4=0.8109 delAAAC=0.1891
Korean Genome Project KOREAN Study-wide 1832 (AAAC)4=0.9170 delAAAC=0.0830
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 (AAAC)4=0.830 delAAAC=0.170
Northern Sweden ACPOP Study-wide 600 (AAAC)4=0.808 delAAAC=0.192
The Danish reference pan genome Danish Study-wide 40 (AAAC)4=0.85 delAAAC=0.15
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.19783571AAAC[2]
GRCh38.p14 chr 22 NC_000022.11:g.19783571AAAC[3]
GRCh38.p14 chr 22 NC_000022.11:g.19783571AAAC[5]
GRCh37.p13 chr 22 NC_000022.10:g.19771094AAAC[2]
GRCh37.p13 chr 22 NC_000022.10:g.19771094AAAC[3]
GRCh37.p13 chr 22 NC_000022.10:g.19771094AAAC[5]
TBX1 RefSeqGene (LRG_226) NG_009229.1:g.31869AAAC[2]
TBX1 RefSeqGene (LRG_226) NG_009229.1:g.31869AAAC[3]
TBX1 RefSeqGene (LRG_226) NG_009229.1:g.31869AAAC[5]
Gene: TBX1, T-box transcription factor 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TBX1 transcript variant B NM_005992.1:c.*268_*283= N/A 3 Prime UTR Variant
TBX1 transcript variant D NM_001379200.1:c. N/A Genic Downstream Transcript Variant
TBX1 transcript variant A NM_080646.2:c. N/A Genic Downstream Transcript Variant
TBX1 transcript variant C NM_080647.1:c. N/A Genic Downstream Transcript Variant
TBX1 transcript variant X2 XM_006724312.3:c. N/A Genic Downstream Transcript Variant
TBX1 transcript variant X3 XM_017028926.2:c. N/A Genic Downstream Transcript Variant
TBX1 transcript variant X1 XM_017028927.2:c. N/A Genic Downstream Transcript Variant
Gene: GNB1L, G protein subunit beta 1 like (minus strand)
Molecule type Change Amino acid[Codon] SO Term
GNB1L transcript NM_053004.3:c.*5123_*5138= 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.

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 (AAAC)4= del(AAAC)2 delAAAC dupAAAC
GRCh38.p14 chr 22 NC_000022.11:g.19783571_19783586= NC_000022.11:g.19783571AAAC[2] NC_000022.11:g.19783571AAAC[3] NC_000022.11:g.19783571AAAC[5]
GRCh37.p13 chr 22 NC_000022.10:g.19771094_19771109= NC_000022.10:g.19771094AAAC[2] NC_000022.10:g.19771094AAAC[3] NC_000022.10:g.19771094AAAC[5]
TBX1 RefSeqGene (LRG_226) NG_009229.1:g.31869_31884= NG_009229.1:g.31869AAAC[2] NG_009229.1:g.31869AAAC[3] NG_009229.1:g.31869AAAC[5]
TBX1 transcript variant B NM_005992.1:c.*268_*283= NM_005992.1:c.*268AAAC[2] NM_005992.1:c.*268AAAC[3] NM_005992.1:c.*268AAAC[5]
GNB1L transcript NM_053004.3:c.*5123_*5138= NM_053004.3:c.*5123GTTT[2] NM_053004.3:c.*5123GTTT[3] NM_053004.3:c.*5123GTTT[5]
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#.

49 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 EGP_SNPS ss52470905 Mar 15, 2016 (147)
2 HGSV ss80140444 Sep 08, 2015 (146)
3 HGSV ss82838178 Sep 08, 2015 (146)
4 BUSHMAN ss193640163 Mar 15, 2016 (147)
5 GMI ss289441133 May 04, 2012 (137)
6 1000GENOMES ss327997879 May 09, 2011 (137)
7 1000GENOMES ss328099789 May 09, 2011 (137)
8 1000GENOMES ss328321887 May 09, 2011 (137)
9 1000GENOMES ss499835619 May 04, 2012 (137)
10 LUNTER ss552708339 Apr 25, 2013 (138)
11 LUNTER ss553130886 Apr 25, 2013 (138)
12 LUNTER ss553699232 Apr 25, 2013 (138)
13 TISHKOFF ss555027748 Apr 25, 2013 (138)
14 SSMP ss664516287 Apr 01, 2015 (144)
15 EVA-GONL ss995221201 Aug 21, 2014 (142)
16 1000GENOMES ss1378898227 Aug 21, 2014 (142)
17 DDI ss1536926691 Apr 01, 2015 (144)
18 EVA_GENOME_DK ss1575807794 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1709541641 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1709541684 Apr 01, 2015 (144)
21 JJLAB ss2031461102 Sep 14, 2016 (149)
22 GNOMAD ss2972970052 Nov 08, 2017 (151)
23 SWEGEN ss3019083629 Nov 08, 2017 (151)
24 MCHAISSO ss3064881672 Nov 08, 2017 (151)
25 MCHAISSO ss3065849175 Nov 08, 2017 (151)
26 BIOINF_KMB_FNS_UNIBA ss3645677284 Oct 12, 2018 (152)
27 EVA_DECODE ss3707952048 Jul 13, 2019 (153)
28 ACPOP ss3743821952 Jul 13, 2019 (153)
29 KHV_HUMAN_GENOMES ss3822396993 Jul 13, 2019 (153)
30 EVA ss3835926991 Apr 27, 2020 (154)
31 EVA ss3841592055 Apr 27, 2020 (154)
32 EVA ss3847106703 Apr 27, 2020 (154)
33 KOGIC ss3983386265 Apr 27, 2020 (154)
34 GNOMAD ss4362544091 Apr 26, 2021 (155)
35 GNOMAD ss4362544093 Apr 26, 2021 (155)
36 TOPMED ss5105060391 Apr 26, 2021 (155)
37 TOPMED ss5105060393 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5232033962 Apr 26, 2021 (155)
39 1000G_HIGH_COVERAGE ss5310653052 Oct 16, 2022 (156)
40 HUGCELL_USP ss5502564607 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5618009552 Oct 16, 2022 (156)
42 SANFORD_IMAGENETICS ss5664233695 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5792982639 Oct 16, 2022 (156)
44 YY_MCH ss5818594500 Oct 16, 2022 (156)
45 EVA ss5821898042 Oct 16, 2022 (156)
46 EVA ss5853345784 Oct 16, 2022 (156)
47 EVA ss5881342643 Oct 16, 2022 (156)
48 EVA ss5959105093 Oct 16, 2022 (156)
49 EVA ss5981123702 Oct 16, 2022 (156)
50 1000Genomes NC_000022.10 - 19771094 Oct 12, 2018 (152)
51 1000Genomes_30x NC_000022.11 - 19783571 Oct 16, 2022 (156)
52 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 19771094 Oct 12, 2018 (152)
53 The Danish reference pan genome NC_000022.10 - 19771094 Apr 27, 2020 (154)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 566504394 (NC_000022.11:19783570::AAAC 1/140100)
Row 566504396 (NC_000022.11:19783570:AAAC: 25352/140038)
Row 566504397 (NC_000022.11:19783570:AAACAAAC: 2/140100)

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

Submission ignored due to conflicting rows:
Row 566504394 (NC_000022.11:19783570::AAAC 1/140100)
Row 566504396 (NC_000022.11:19783570:AAAC: 25352/140038)
Row 566504397 (NC_000022.11:19783570:AAACAAAC: 2/140100)

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

Submission ignored due to conflicting rows:
Row 566504394 (NC_000022.11:19783570::AAAC 1/140100)
Row 566504396 (NC_000022.11:19783570:AAAC: 25352/140038)
Row 566504397 (NC_000022.11:19783570:AAACAAAC: 2/140100)

- Apr 26, 2021 (155)
57 Genome of the Netherlands Release 5 NC_000022.10 - 19771094 Apr 27, 2020 (154)
58 Korean Genome Project NC_000022.11 - 19783571 Apr 27, 2020 (154)
59 Northern Sweden NC_000022.10 - 19771094 Jul 13, 2019 (153)
60 8.3KJPN NC_000022.10 - 19771094 Apr 26, 2021 (155)
61 14KJPN NC_000022.11 - 19783571 Oct 16, 2022 (156)
62 TopMed

Submission ignored due to conflicting rows:
Row 380169338 (NC_000022.11:19783570::AAAC 4/264690)
Row 380169340 (NC_000022.11:19783570:AAAC: 48065/264690)

- Apr 26, 2021 (155)
63 TopMed

Submission ignored due to conflicting rows:
Row 380169338 (NC_000022.11:19783570::AAAC 4/264690)
Row 380169340 (NC_000022.11:19783570:AAAC: 48065/264690)

- Apr 26, 2021 (155)
64 UK 10K study - Twins NC_000022.10 - 19771094 Oct 12, 2018 (152)
65 ALFA NC_000022.11 - 19783571 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)
rs139474531 May 11, 2012 (137)
rs368626032 May 15, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4362544093 NC_000022.11:19783570:AAACAAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAAC

(self)
13325206203 NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAAC

NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAAC

(self)
ss80140444, ss82838178 NC_000022.8:18145659:AAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
ss289441133, ss327997879, ss328099789, ss328321887, ss552708339, ss553130886, ss553699232 NC_000022.9:18151093:AAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
80211490, 44378731, 788130, 19772378, 17106817, 90003269, 44378731, ss499835619, ss664516287, ss995221201, ss1378898227, ss1536926691, ss1575807794, ss1709541641, ss1709541684, ss2031461102, ss2972970052, ss3019083629, ss3743821952, ss3835926991, ss3841592055, ss5232033962, ss5664233695, ss5821898042, ss5959105093, ss5981123702 NC_000022.10:19771093:AAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
ss555027748 NC_000022.10:19771105:AAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
105535487, 39764266, 126819743, ss3064881672, ss3065849175, ss3645677284, ss3707952048, ss3822396993, ss3847106703, ss3983386265, ss5105060393, ss5310653052, ss5502564607, ss5618009552, ss5792982639, ss5818594500, ss5853345784, ss5881342643 NC_000022.11:19783570:AAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
13325206203 NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
ss193640163 NT_011519.10:2923243:AAAC: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
ss52470905 NT_011519.10:2923254:CAAA: NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAAC

(self)
ss4362544091, ss5105060391 NC_000022.11:19783570::AAAC NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAACAAACAAAC

(self)
13325206203 NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAACAAACAAAC

NC_000022.11:19783570:AAACAAACAAAC…

NC_000022.11:19783570:AAACAAACAAACAAAC:AAACAAACAAACAAACAAAC

(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 rs60613692

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