Name: rs1491136901
Published: September 21, 2022
License: Open Access

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.

rs1491136901

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:15971362-15971374 (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: delTATA / delTA / dupTA
Variation Type: Indel Insertion and Deletion
Frequency: delTA=0.00000 (0/11862, ALFA)
dupTA=0.00000 (0/11862, ALFA)
delTA=0.0109 (20/1830, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZBTB17 : 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	HWEP
Total	Global	11862	ATATATATATATA=1.00000	ATATATATATA=0.00000, ATATATATATATATA=0.00000	1.0	N/A
European	Sub	7618	ATATATATATATA=1.0000	ATATATATATA=0.0000, ATATATATATATATA=0.0000	1.0	N/A
African	Sub	2816	ATATATATATATA=1.0000	ATATATATATA=0.0000, ATATATATATATATA=0.0000	1.0	N/A
African Others	Sub	108	ATATATATATATA=1.000	ATATATATATA=0.000, ATATATATATATATA=0.000	1.0	N/A
African American	Sub	2708	ATATATATATATA=1.0000	ATATATATATA=0.0000, ATATATATATATATA=0.0000	1.0	N/A
Asian	Sub	108	ATATATATATATA=1.000	ATATATATATA=0.000, ATATATATATATATA=0.000	1.0	N/A
East Asian	Sub	84	ATATATATATATA=1.00	ATATATATATA=0.00, ATATATATATATATA=0.00	1.0	N/A
Other Asian	Sub	24	ATATATATATATA=1.00	ATATATATATA=0.00, ATATATATATATATA=0.00	1.0	N/A
Latin American 1	Sub	146	ATATATATATATA=1.000	ATATATATATA=0.000, ATATATATATATATA=0.000	1.0	N/A
Latin American 2	Sub	610	ATATATATATATA=1.000	ATATATATATA=0.000, ATATATATATATATA=0.000	1.0	N/A
South Asian	Sub	94	ATATATATATATA=1.00	ATATATATATA=0.00, ATATATATATATATA=0.00	1.0	N/A
Other	Sub	470	ATATATATATATA=1.000	ATATATATATA=0.000, ATATATATATATATA=0.000	1.0	N/A

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	11862	(AT)₆A=1.00000	delTA=0.00000, dupTA=0.00000
Allele Frequency Aggregator	European	Sub	7618	(AT)₆A=1.0000	delTA=0.0000, dupTA=0.0000
Allele Frequency Aggregator	African	Sub	2816	(AT)₆A=1.0000	delTA=0.0000, dupTA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	(AT)₆A=1.000	delTA=0.000, dupTA=0.000
Allele Frequency Aggregator	Other	Sub	470	(AT)₆A=1.000	delTA=0.000, dupTA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(AT)₆A=1.000	delTA=0.000, dupTA=0.000
Allele Frequency Aggregator	Asian	Sub	108	(AT)₆A=1.000	delTA=0.000, dupTA=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(AT)₆A=1.00	delTA=0.00, dupTA=0.00
Korean Genome Project	KOREAN	Study-wide	1830	(AT)₆A=0.9891	delTA=0.0109

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 1	NC_000001.11:g.15971363TA[4]
GRCh38.p14 chr 1	NC_000001.11:g.15971363TA[5]
GRCh38.p14 chr 1	NC_000001.11:g.15971363TA[7]
GRCh37.p13 chr 1	NC_000001.10:g.16297858TA[4]
GRCh37.p13 chr 1	NC_000001.10:g.16297858TA[5]
GRCh37.p13 chr 1	NC_000001.10:g.16297858TA[7]

Gene: ZBTB17, zinc finger and BTB domain containing 17 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZBTB17 transcript variant 1	NM_001242884.2:c.-64+1666… NM_001242884.2:c.-64+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant 3	NM_001287603.2:c.-3+1666A… NM_001287603.2:c.-3+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant 4	NM_001287604.2:c.-227+166… NM_001287604.2:c.-227+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant 5	NM_001324137.2:c.-24+1666… NM_001324137.2:c.-24+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant 6	NM_001324138.2:c.-3+1666A… NM_001324138.2:c.-3+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant 2	NM_003443.3:c.-3+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant X1	XM_005245986.3:c.-3+1666A… XM_005245986.3:c.-3+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant X2	XM_011542085.4:c.-24+1666… XM_011542085.4:c.-24+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant X4	XM_011542087.4:c.-64+1666… XM_011542087.4:c.-64+1666AT[4]	N/A	Intron Variant
ZBTB17 transcript variant X3	XM_047429978.1:c.	N/A	Genic Upstream Transcript Variant

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

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	(AT)₆A=	delTATA	delTA	dupTA
GRCh38.p14 chr 1	NC_000001.11:g.15971362_15971374=	NC_000001.11:g.15971363TA[4]	NC_000001.11:g.15971363TA[5]	NC_000001.11:g.15971363TA[7]
GRCh37.p13 chr 1	NC_000001.10:g.16297857_16297869=	NC_000001.10:g.16297858TA[4]	NC_000001.10:g.16297858TA[5]	NC_000001.10:g.16297858TA[7]
ZBTB17 transcript variant 1	NM_001242884.1:c.-64+1677=	NM_001242884.1:c.-64+1666AT[4]	NM_001242884.1:c.-64+1666AT[5]	NM_001242884.1:c.-64+1666AT[7]
ZBTB17 transcript variant 1	NM_001242884.2:c.-64+1677=	NM_001242884.2:c.-64+1666AT[4]	NM_001242884.2:c.-64+1666AT[5]	NM_001242884.2:c.-64+1666AT[7]
ZBTB17 transcript variant 3	NM_001287603.2:c.-3+1677=	NM_001287603.2:c.-3+1666AT[4]	NM_001287603.2:c.-3+1666AT[5]	NM_001287603.2:c.-3+1666AT[7]
ZBTB17 transcript variant 4	NM_001287604.2:c.-227+1677=	NM_001287604.2:c.-227+1666AT[4]	NM_001287604.2:c.-227+1666AT[5]	NM_001287604.2:c.-227+1666AT[7]
ZBTB17 transcript variant 5	NM_001324137.2:c.-24+1677=	NM_001324137.2:c.-24+1666AT[4]	NM_001324137.2:c.-24+1666AT[5]	NM_001324137.2:c.-24+1666AT[7]
ZBTB17 transcript variant 6	NM_001324138.2:c.-3+1677=	NM_001324138.2:c.-3+1666AT[4]	NM_001324138.2:c.-3+1666AT[5]	NM_001324138.2:c.-3+1666AT[7]
ZBTB17 transcript variant 2	NM_003443.2:c.-3+1677=	NM_003443.2:c.-3+1666AT[4]	NM_003443.2:c.-3+1666AT[5]	NM_003443.2:c.-3+1666AT[7]
ZBTB17 transcript variant 2	NM_003443.3:c.-3+1677=	NM_003443.3:c.-3+1666AT[4]	NM_003443.3:c.-3+1666AT[5]	NM_003443.3:c.-3+1666AT[7]
ZBTB17 transcript variant X1	XM_005245985.1:c.-3+1677=	XM_005245985.1:c.-3+1666AT[4]	XM_005245985.1:c.-3+1666AT[5]	XM_005245985.1:c.-3+1666AT[7]
ZBTB17 transcript variant X1	XM_005245986.1:c.-3+1677=	XM_005245986.1:c.-3+1666AT[4]	XM_005245986.1:c.-3+1666AT[5]	XM_005245986.1:c.-3+1666AT[7]
ZBTB17 transcript variant X1	XM_005245986.3:c.-3+1677=	XM_005245986.3:c.-3+1666AT[4]	XM_005245986.3:c.-3+1666AT[5]	XM_005245986.3:c.-3+1666AT[7]
ZBTB17 transcript variant X2	XM_005245987.1:c.-227+1677=	XM_005245987.1:c.-227+1666AT[4]	XM_005245987.1:c.-227+1666AT[5]	XM_005245987.1:c.-227+1666AT[7]
ZBTB17 transcript variant X4	XM_005245988.1:c.-227+1677=	XM_005245988.1:c.-227+1666AT[4]	XM_005245988.1:c.-227+1666AT[5]	XM_005245988.1:c.-227+1666AT[7]
ZBTB17 transcript variant X5	XM_005245989.1:c.-3+1677=	XM_005245989.1:c.-3+1666AT[4]	XM_005245989.1:c.-3+1666AT[5]	XM_005245989.1:c.-3+1666AT[7]
ZBTB17 transcript variant X2	XM_011542085.4:c.-24+1677=	XM_011542085.4:c.-24+1666AT[4]	XM_011542085.4:c.-24+1666AT[5]	XM_011542085.4:c.-24+1666AT[7]
ZBTB17 transcript variant X4	XM_011542087.4:c.-64+1677=	XM_011542087.4:c.-64+1666AT[4]	XM_011542087.4:c.-64+1666AT[5]	XM_011542087.4:c.-64+1666AT[7]

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#.

12 SubSNP, 8 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KOGIC	ss3943904601	Apr 25, 2020 (154)
2	GNOMAD	ss3988927010	Apr 27, 2021 (155)
3	GNOMAD	ss3988927012	Apr 27, 2021 (155)
4	VINODS	ss4017965670	Apr 27, 2021 (155)
5	TOMMO_GENOMICS	ss5142651073	Apr 27, 2021 (155)
6	TOMMO_GENOMICS	ss5142651074	Apr 27, 2021 (155)
7	1000G_HIGH_COVERAGE	ss5241309977	Oct 17, 2022 (156)
8	HUGCELL_USP	ss5442488919	Oct 17, 2022 (156)
9	TOMMO_GENOMICS	ss5667013059	Oct 17, 2022 (156)
10	TOMMO_GENOMICS	ss5667013060	Oct 17, 2022 (156)
11	YY_MCH	ss5800359117	Oct 17, 2022 (156)
12	EVA	ss5907179672	Oct 17, 2022 (156)
13	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3485678 (NC_000001.11:15971361::AT 10/120822) Row 3485680 (NC_000001.11:15971361:AT: 20/120828)	-	Apr 27, 2021 (155)
14	gnomAD - Genomes Submission ignored due to conflicting rows: Row 3485678 (NC_000001.11:15971361::AT 10/120822) Row 3485680 (NC_000001.11:15971361:AT: 20/120828)	-	Apr 27, 2021 (155)
15	Korean Genome Project	NC_000001.11 - 15971362	Apr 25, 2020 (154)
16	8.3KJPN Submission ignored due to conflicting rows: Row 620380 (NC_000001.10:16297856::AT 40/16746) Row 620381 (NC_000001.10:16297856:AT: 85/16746)	-	Apr 27, 2021 (155)
17	8.3KJPN Submission ignored due to conflicting rows: Row 620380 (NC_000001.10:16297856::AT 40/16746) Row 620381 (NC_000001.10:16297856:AT: 85/16746)	-	Apr 27, 2021 (155)
18	14KJPN Submission ignored due to conflicting rows: Row 850163 (NC_000001.11:15971361::AT 59/28252) Row 850164 (NC_000001.11:15971361:AT: 124/28252)	-	Oct 17, 2022 (156)
19	14KJPN Submission ignored due to conflicting rows: Row 850163 (NC_000001.11:15971361::AT 59/28252) Row 850164 (NC_000001.11:15971361:AT: 124/28252)	-	Oct 17, 2022 (156)
20	ALFA	NC_000001.11 - 15971362	Apr 27, 2021 (155)

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
ss4017965670	NC_000001.11:15971361:ATAT:	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATA	(self)
ss5142651074	NC_000001.10:16297856:AT:	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATA	(self)
282602, ss3943904601, ss3988927012, ss5241309977, ss5667013060, ss5800359117, ss5907179672	NC_000001.11:15971361:AT:	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATA	(self)
7939498759	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATA	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATA	(self)
ss5142651073	NC_000001.10:16297856::AT	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATATATA	(self)
ss3988927010, ss5442488919, ss5667013059	NC_000001.11:15971361::AT	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATATATA	(self)
7939498759	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATATATA	NC_000001.11:15971361:ATATATATATAT… NC_000001.11:15971361:ATATATATATATA:ATATATATATATATA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1491136901

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491136901