Name: rs147822885
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.

rs147822885

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:41998827 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.009543 (2526/264690, TOPMED)
A=0.011483 (1610/140208, GnomAD)
A=0.01631 (313/19190, ALFA) (+ 7 more)
A=0.0052 (33/6404, 1000G_30x)
A=0.0046 (23/5008, 1000G)
A=0.0281 (126/4480, Estonian)
A=0.0169 (65/3854, ALSPAC)
A=0.0148 (55/3708, TWINSUK)
A=0.011 (11/998, GoNL)
A=0.017 (10/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZBTB21 : 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	19190	G=0.98369	A=0.01631
European	Sub	14286	G=0.97991	A=0.02009
African	Sub	2970	G=0.9976	A=0.0024
African Others	Sub	114	G=1.000	A=0.000
African American	Sub	2856	G=0.9975	A=0.0025
Asian	Sub	116	G=1.000	A=0.000
East Asian	Sub	88	G=1.00	A=0.00
Other Asian	Sub	28	G=1.00	A=0.00
Latin American 1	Sub	154	G=1.000	A=0.000
Latin American 2	Sub	616	G=0.990	A=0.010
South Asian	Sub	98	G=0.99	A=0.01
Other	Sub	950	G=0.987	A=0.013

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
TopMed	Global	Study-wide	264690	G=0.990457	A=0.009543
gnomAD - Genomes	Global	Study-wide	140208	G=0.988517	A=0.011483
gnomAD - Genomes	European	Sub	75928	G=0.98226	A=0.01774
gnomAD - Genomes	African	Sub	42024	G=0.99650	A=0.00350
gnomAD - Genomes	American	Sub	13654	G=0.99436	A=0.00564
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9934	A=0.0066
gnomAD - Genomes	East Asian	Sub	3130	G=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2152	G=0.9921	A=0.0079
Allele Frequency Aggregator	Total	Global	19190	G=0.98369	A=0.01631
Allele Frequency Aggregator	European	Sub	14286	G=0.97991	A=0.02009
Allele Frequency Aggregator	African	Sub	2970	G=0.9976	A=0.0024
Allele Frequency Aggregator	Other	Sub	950	G=0.987	A=0.013
Allele Frequency Aggregator	Latin American 2	Sub	616	G=0.990	A=0.010
Allele Frequency Aggregator	Latin American 1	Sub	154	G=1.000	A=0.000
Allele Frequency Aggregator	Asian	Sub	116	G=1.000	A=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=0.99	A=0.01
1000Genomes_30x	Global	Study-wide	6404	G=0.9948	A=0.0052
1000Genomes_30x	African	Sub	1786	G=1.0000	A=0.0000
1000Genomes_30x	Europe	Sub	1266	G=0.9858	A=0.0142
1000Genomes_30x	South Asian	Sub	1202	G=0.9942	A=0.0058
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	A=0.0000
1000Genomes_30x	American	Sub	980	G=0.992	A=0.008
1000Genomes	Global	Study-wide	5008	G=0.9954	A=0.0046
1000Genomes	African	Sub	1322	G=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	G=1.0000	A=0.0000
1000Genomes	Europe	Sub	1006	G=0.9851	A=0.0149
1000Genomes	South Asian	Sub	978	G=0.995	A=0.005
1000Genomes	American	Sub	694	G=0.996	A=0.004
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9719	A=0.0281
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9831	A=0.0169
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9852	A=0.0148
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.989	A=0.011
Northern Sweden	ACPOP	Study-wide	600	G=0.983	A=0.017

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 21	NC_000021.9:g.41998827G>A
GRCh37.p13 chr 21	NC_000021.8:g.43418936G>A

Gene: ZBTB21, zinc finger and BTB domain containing 21 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZBTB21 transcript variant 1	NM_001098402.2:c.-14+4070… NM_001098402.2:c.-14+4070C>T	N/A	Intron Variant
ZBTB21 transcript variant 3	NM_001098403.2:c.-14+4070… NM_001098403.2:c.-14+4070C>T	N/A	Intron Variant
ZBTB21 transcript variant 4	NM_001320729.2:c.-13-4719… NM_001320729.2:c.-13-4719C>T	N/A	Intron Variant
ZBTB21 transcript variant 5	NM_001320731.2:c.-14+3523… NM_001320731.2:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant 2	NM_020727.5:c.-13-4719C>T	N/A	Intron Variant
ZBTB21 transcript variant X3	XM_005261121.4:c.-14+4070… XM_005261121.4:c.-14+4070C>T	N/A	Intron Variant
ZBTB21 transcript variant X1	XM_011529588.3:c.-14+3523… XM_011529588.3:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X4	XM_017028360.2:c.-14+3523… XM_017028360.2:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X2	XM_047440786.1:c.-14+4070… XM_047440786.1:c.-14+4070C>T	N/A	Intron Variant
ZBTB21 transcript variant X5	XM_047440787.1:c.-14+3523… XM_047440787.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X6	XM_047440788.1:c.-14+3523… XM_047440788.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X7	XM_047440789.1:c.-14+3523… XM_047440789.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X8	XM_047440790.1:c.-14+3523… XM_047440790.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X9	XM_047440791.1:c.-14+3523… XM_047440791.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X10	XM_047440792.1:c.-14+3523… XM_047440792.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X11	XM_047440793.1:c.-14+3523… XM_047440793.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X12	XM_047440794.1:c.-14+4070… XM_047440794.1:c.-14+4070C>T	N/A	Intron Variant
ZBTB21 transcript variant X13	XM_047440795.1:c.-14+3523… XM_047440795.1:c.-14+3523C>T	N/A	Intron Variant
ZBTB21 transcript variant X14	XM_047440796.1:c.-14+4070… XM_047440796.1:c.-14+4070C>T	N/A	Intron Variant
ZBTB21 transcript variant X15	XM_047440797.1:c.-14+3523… XM_047440797.1:c.-14+3523C>T	N/A	Intron 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	G=	A
GRCh38.p14 chr 21	NC_000021.9:g.41998827=	NC_000021.9:g.41998827G>A
GRCh37.p13 chr 21	NC_000021.8:g.43418936=	NC_000021.8:g.43418936G>A
ZBTB21 transcript variant 1	NM_001098402.1:c.-14+4070=	NM_001098402.1:c.-14+4070C>T
ZBTB21 transcript variant 1	NM_001098402.2:c.-14+4070=	NM_001098402.2:c.-14+4070C>T
ZBTB21 transcript variant 3	NM_001098403.1:c.-14+4070=	NM_001098403.1:c.-14+4070C>T
ZBTB21 transcript variant 3	NM_001098403.2:c.-14+4070=	NM_001098403.2:c.-14+4070C>T
ZBTB21 transcript variant 4	NM_001320729.2:c.-13-4719=	NM_001320729.2:c.-13-4719C>T
ZBTB21 transcript variant 5	NM_001320731.2:c.-14+3523=	NM_001320731.2:c.-14+3523C>T
ZBTB21 transcript variant 2	NM_020727.4:c.-13-4719=	NM_020727.4:c.-13-4719C>T
ZBTB21 transcript variant 2	NM_020727.5:c.-13-4719=	NM_020727.5:c.-13-4719C>T
ZBTB21 transcript variant X1	XM_005261121.1:c.-14+4070=	XM_005261121.1:c.-14+4070C>T
ZBTB21 transcript variant X3	XM_005261121.4:c.-14+4070=	XM_005261121.4:c.-14+4070C>T
ZBTB21 transcript variant X2	XM_005261122.1:c.-14+3523=	XM_005261122.1:c.-14+3523C>T
ZBTB21 transcript variant X8	XM_005261123.1:c.-13-4719=	XM_005261123.1:c.-13-4719C>T
ZBTB21 transcript variant X1	XM_011529588.3:c.-14+3523=	XM_011529588.3:c.-14+3523C>T
ZBTB21 transcript variant X4	XM_017028360.2:c.-14+3523=	XM_017028360.2:c.-14+3523C>T
ZBTB21 transcript variant X2	XM_047440786.1:c.-14+4070=	XM_047440786.1:c.-14+4070C>T
ZBTB21 transcript variant X5	XM_047440787.1:c.-14+3523=	XM_047440787.1:c.-14+3523C>T
ZBTB21 transcript variant X6	XM_047440788.1:c.-14+3523=	XM_047440788.1:c.-14+3523C>T
ZBTB21 transcript variant X7	XM_047440789.1:c.-14+3523=	XM_047440789.1:c.-14+3523C>T
ZBTB21 transcript variant X8	XM_047440790.1:c.-14+3523=	XM_047440790.1:c.-14+3523C>T
ZBTB21 transcript variant X9	XM_047440791.1:c.-14+3523=	XM_047440791.1:c.-14+3523C>T
ZBTB21 transcript variant X10	XM_047440792.1:c.-14+3523=	XM_047440792.1:c.-14+3523C>T
ZBTB21 transcript variant X11	XM_047440793.1:c.-14+3523=	XM_047440793.1:c.-14+3523C>T
ZBTB21 transcript variant X12	XM_047440794.1:c.-14+4070=	XM_047440794.1:c.-14+4070C>T
ZBTB21 transcript variant X13	XM_047440795.1:c.-14+3523=	XM_047440795.1:c.-14+3523C>T
ZBTB21 transcript variant X14	XM_047440796.1:c.-14+4070=	XM_047440796.1:c.-14+4070C>T
ZBTB21 transcript variant X15	XM_047440797.1:c.-14+3523=	XM_047440797.1:c.-14+3523C>T

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#.

26 SubSNP, 10 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss341038893	May 09, 2011 (134)
2	ILLUMINA	ss534836162	Sep 08, 2015 (146)
3	SSMP	ss662429653	Apr 25, 2013 (138)
4	EVA-GONL	ss995153912	Aug 21, 2014 (142)
5	1000GENOMES	ss1366419340	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1639633265	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1682627298	Apr 01, 2015 (144)
8	EVA_DECODE	ss1699225812	Apr 01, 2015 (144)
9	JJLAB	ss2030126225	Sep 14, 2016 (149)
10	HUMAN_LONGEVITY	ss2246045179	Dec 20, 2016 (150)
11	GNOMAD	ss2972156624	Nov 08, 2017 (151)
12	SWEGEN	ss3018946524	Nov 08, 2017 (151)
13	CSHL	ss3352735642	Nov 08, 2017 (151)
14	ILLUMINA	ss3628489897	Oct 12, 2018 (152)
15	EGCUT_WGS	ss3685524239	Jul 13, 2019 (153)
16	EVA_DECODE	ss3707800584	Jul 13, 2019 (153)
17	ACPOP	ss3743762692	Jul 13, 2019 (153)
18	TOPMED	ss5102735318	Apr 27, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5310334594	Oct 16, 2022 (156)
20	EVA	ss5440101146	Oct 16, 2022 (156)
21	HUGCELL_USP	ss5502372172	Oct 16, 2022 (156)
22	1000G_HIGH_COVERAGE	ss5617530904	Oct 16, 2022 (156)
23	SANFORD_IMAGENETICS	ss5664081744	Oct 16, 2022 (156)
24	EVA	ss5839088210	Oct 16, 2022 (156)
25	EVA	ss5892491933	Oct 16, 2022 (156)
26	EVA	ss5958980565	Oct 16, 2022 (156)
27	1000Genomes	NC_000021.8 - 43418936	Oct 12, 2018 (152)
28	1000Genomes_30x	NC_000021.9 - 41998827	Oct 16, 2022 (156)
29	The Avon Longitudinal Study of Parents and Children	NC_000021.8 - 43418936	Oct 12, 2018 (152)
30	Genetic variation in the Estonian population	NC_000021.8 - 43418936	Oct 12, 2018 (152)
31	gnomAD - Genomes	NC_000021.9 - 41998827	Apr 27, 2021 (155)
32	Genome of the Netherlands Release 5	NC_000021.8 - 43418936	Apr 27, 2020 (154)
33	Northern Sweden	NC_000021.8 - 43418936	Jul 13, 2019 (153)
34	TopMed	NC_000021.9 - 41998827	Apr 27, 2021 (155)
35	UK 10K study - Twins	NC_000021.8 - 43418936	Oct 12, 2018 (152)
36	ALFA	NC_000021.9 - 41998827	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
ss1699225812	NC_000021.7:42292004:G:A	NC_000021.9:41998826:G:A	(self)
79944251, 44248311, 31262487, 19710822, 17047557, 44248311, ss341038893, ss534836162, ss662429653, ss995153912, ss1366419340, ss1639633265, ss1682627298, ss2030126225, ss2972156624, ss3018946524, ss3352735642, ss3628489897, ss3685524239, ss3743762692, ss5440101146, ss5664081744, ss5839088210, ss5958980565	NC_000021.8:43418935:G:A	NC_000021.9:41998826:G:A	(self)
105056839, 564104873, 377844264, 5917863582, ss2246045179, ss3707800584, ss5102735318, ss5310334594, ss5502372172, ss5617530904, ss5892491933	NC_000021.9:41998826:G:A	NC_000021.9:41998826:G:A	(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 rs147822885

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs147822885