Name: rs1491263706
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.

rs1491263706

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:106910364-106910367 (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: insG(T)₄
Variation Type: Indel Insertion and Deletion
Frequency: insG(T)₄=0.00005 (4/81874, GnomAD)
insG(T)₄=0.01298 (154/11862, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ZNF462 : 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	HTRZ	HWEP
Total	Global	11862	TTTT=0.98702	TTTTGTTTT=0.01298	0.974035	0.025965	1
European	Sub	7618	TTTT=0.9999	TTTTGTTTT=0.0001	0.999737	0.000263	0
African	Sub	2816	TTTT=0.9478	TTTTGTTTT=0.0522	0.895597	0.104403	3
African Others	Sub	108	TTTT=0.944	TTTTGTTTT=0.056	0.888889	0.111111	0
African American	Sub	2708	TTTT=0.9479	TTTTGTTTT=0.0521	0.895864	0.104136	3
Asian	Sub	108	TTTT=1.000	TTTTGTTTT=0.000	1.0	0.0	N/A
East Asian	Sub	84	TTTT=1.00	TTTTGTTTT=0.00	1.0	0.0	N/A
Other Asian	Sub	24	TTTT=1.00	TTTTGTTTT=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	TTTT=0.986	TTTTGTTTT=0.014	0.972603	0.027397	0
Latin American 2	Sub	610	TTTT=1.000	TTTTGTTTT=0.000	1.0	0.0	N/A
South Asian	Sub	94	TTTT=1.00	TTTTGTTTT=0.00	1.0	0.0	N/A
Other	Sub	470	TTTT=0.991	TTTTGTTTT=0.009	0.982979	0.017021	0

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
gnomAD - Genomes	Global	Study-wide	81874	- No frequency provided	insG(T)₄=0.00005
gnomAD - Genomes	European	Sub	47486	- No frequency provided	insG(T)₄=0.00000
gnomAD - Genomes	African	Sub	21020	- No frequency provided	insG(T)₄=0.00019
gnomAD - Genomes	American	Sub	7878	- No frequency provided	insG(T)₄=0.0000
gnomAD - Genomes	Ashkenazi Jewish	Sub	2324	- No frequency provided	insG(T)₄=0.0000
gnomAD - Genomes	East Asian	Sub	1996	- No frequency provided	insG(T)₄=0.0000
gnomAD - Genomes	Other	Sub	1170	- No frequency provided	insG(T)₄=0.0000
Allele Frequency Aggregator	Total	Global	11862	(T)₄=0.98702	insG(T)₄=0.01298
Allele Frequency Aggregator	European	Sub	7618	(T)₄=0.9999	insG(T)₄=0.0001
Allele Frequency Aggregator	African	Sub	2816	(T)₄=0.9478	insG(T)₄=0.0522
Allele Frequency Aggregator	Latin American 2	Sub	610	(T)₄=1.000	insG(T)₄=0.000
Allele Frequency Aggregator	Other	Sub	470	(T)₄=0.991	insG(T)₄=0.009
Allele Frequency Aggregator	Latin American 1	Sub	146	(T)₄=0.986	insG(T)₄=0.014
Allele Frequency Aggregator	Asian	Sub	108	(T)₄=1.000	insG(T)₄=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(T)₄=1.00	insG(T)₄=0.00

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 9	NC_000009.12:g.106910364_106910367T[4]GTTTT[1]
GRCh37.p13 chr 9	NC_000009.11:g.109672645_109672648T[4]GTTTT[1]
ZNF462 RefSeqGene	NG_052913.1:g.52268_52271T[4]GTTTT[1]

Gene: ZNF462, zinc finger protein 462 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ZNF462 transcript variant 2	NM_001347997.2:c.-30-1298… NM_001347997.2:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant 1	NM_021224.6:c.-30-12987_-… NM_021224.6:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X1	XM_006717209.5:c.-30-1298… XM_006717209.5:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X3	XM_006717212.5:c.-30-1298… XM_006717212.5:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X15	XM_006717215.5:c.-30-1298… XM_006717215.5:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X19	XM_006717216.5:c.-30-1298… XM_006717216.5:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X8	XM_017014996.3:c.-30-1298… XM_017014996.3:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X6	XM_017014997.3:c.-31+3924… XM_017014997.3:c.-31+3924_-31+3925insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X32	XM_017014998.3:c.-30-1298… XM_017014998.3:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X11	XM_024447629.1:c.-30-1298… XM_024447629.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X2	XM_047423661.1:c.-30-1298… XM_047423661.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X4	XM_047423662.1:c.-30-1298… XM_047423662.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X5	XM_047423663.1:c.-30-1298… XM_047423663.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X7	XM_047423664.1:c.-30-1298… XM_047423664.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X14	XM_047423668.1:c.-30-1298… XM_047423668.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X16	XM_047423669.1:c.-30-1298… XM_047423669.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X17	XM_047423670.1:c.-30-1298… XM_047423670.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X18	XM_047423671.1:c.-31+3924… XM_047423671.1:c.-31+3924_-31+3925insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X20	XM_047423672.1:c.-30-1298… XM_047423672.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X21	XM_047423673.1:c.-30-1298… XM_047423673.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X23	XM_047423675.1:c.-30-1298… XM_047423675.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X24	XM_047423676.1:c.-30-1298… XM_047423676.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X25	XM_047423677.1:c.-30-1298… XM_047423677.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X26	XM_047423678.1:c.-31+3924… XM_047423678.1:c.-31+3924_-31+3925insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X27	XM_047423679.1:c.-30-1298… XM_047423679.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X28	XM_047423680.1:c.-30-1298… XM_047423680.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X29	XM_047423681.1:c.-30-1298… XM_047423681.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X30	XM_047423682.1:c.-30-1298… XM_047423682.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X31	XM_047423683.1:c.-30-1298… XM_047423683.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X33	XM_047423684.1:c.-30-1298… XM_047423684.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X34	XM_047423685.1:c.-30-1298… XM_047423685.1:c.-30-12987_-30-12986insGTTTT	N/A	Intron Variant
ZNF462 transcript variant X9	XM_006717211.5:c.	N/A	Genic Upstream Transcript Variant
ZNF462 transcript variant X10	XM_047423665.1:c.	N/A	Genic Upstream Transcript Variant
ZNF462 transcript variant X12	XM_047423666.1:c.	N/A	Genic Upstream Transcript Variant
ZNF462 transcript variant X13	XM_047423667.1:c.	N/A	Genic Upstream Transcript Variant
ZNF462 transcript variant X22	XM_047423674.1: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	(T)₄=	insG(T)₄
GRCh38.p14 chr 9	NC_000009.12:g.106910364_106910367=	NC_000009.12:g.106910364_106910367T[4]GTTTT[1]
GRCh37.p13 chr 9	NC_000009.11:g.109672645_109672648=	NC_000009.11:g.109672645_109672648T[4]GTTTT[1]
ZNF462 RefSeqGene	NG_052913.1:g.52268_52271=	NG_052913.1:g.52268_52271T[4]GTTTT[1]
ZNF462 transcript variant 2	NM_001347997.2:c.-30-12990=	NM_001347997.2:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript	NM_021224.4:c.-30-12990=	NM_021224.4:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant 1	NM_021224.6:c.-30-12990=	NM_021224.6:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X1	XM_005252117.1:c.-30-12990=	XM_005252117.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X3	XM_005252119.1:c.-30-12990=	XM_005252119.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X4	XM_005252120.1:c.-30-12990=	XM_005252120.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X6	XM_005252122.1:c.-30-12990=	XM_005252122.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X1	XM_006717209.5:c.-30-12990=	XM_006717209.5:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X3	XM_006717212.5:c.-30-12990=	XM_006717212.5:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X15	XM_006717215.5:c.-30-12990=	XM_006717215.5:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X19	XM_006717216.5:c.-30-12990=	XM_006717216.5:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X8	XM_017014996.3:c.-30-12990=	XM_017014996.3:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X6	XM_017014997.3:c.-31+3921=	XM_017014997.3:c.-31+3924_-31+3925insGTTTT
ZNF462 transcript variant X32	XM_017014998.3:c.-30-12990=	XM_017014998.3:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X11	XM_024447629.1:c.-30-12990=	XM_024447629.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X2	XM_047423661.1:c.-30-12990=	XM_047423661.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X4	XM_047423662.1:c.-30-12990=	XM_047423662.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X5	XM_047423663.1:c.-30-12990=	XM_047423663.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X7	XM_047423664.1:c.-30-12990=	XM_047423664.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X14	XM_047423668.1:c.-30-12990=	XM_047423668.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X16	XM_047423669.1:c.-30-12990=	XM_047423669.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X17	XM_047423670.1:c.-30-12990=	XM_047423670.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X18	XM_047423671.1:c.-31+3921=	XM_047423671.1:c.-31+3924_-31+3925insGTTTT
ZNF462 transcript variant X20	XM_047423672.1:c.-30-12990=	XM_047423672.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X21	XM_047423673.1:c.-30-12990=	XM_047423673.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X23	XM_047423675.1:c.-30-12990=	XM_047423675.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X24	XM_047423676.1:c.-30-12990=	XM_047423676.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X25	XM_047423677.1:c.-30-12990=	XM_047423677.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X26	XM_047423678.1:c.-31+3921=	XM_047423678.1:c.-31+3924_-31+3925insGTTTT
ZNF462 transcript variant X27	XM_047423679.1:c.-30-12990=	XM_047423679.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X28	XM_047423680.1:c.-30-12990=	XM_047423680.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X29	XM_047423681.1:c.-30-12990=	XM_047423681.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X30	XM_047423682.1:c.-30-12990=	XM_047423682.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X31	XM_047423683.1:c.-30-12990=	XM_047423683.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X33	XM_047423684.1:c.-30-12990=	XM_047423684.1:c.-30-12987_-30-12986insGTTTT
ZNF462 transcript variant X34	XM_047423685.1:c.-30-12990=	XM_047423685.1:c.-30-12987_-30-12986insGTTTT

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#.

1 SubSNP, 2 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4207392546	Apr 26, 2021 (155)
2	gnomAD - Genomes	NC_000009.12 - 106910364	Apr 26, 2021 (155)
3	ALFA	NC_000009.12 - 106910364	Apr 26, 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
334244035, ss4207392546	NC_000009.12:106910363::TTTTG	NC_000009.12:106910363:TTTT:TTTTGT… NC_000009.12:106910363:TTTT:TTTTGTTTT	(self)
10592927996	NC_000009.12:106910363:TTTT:TTTTGT… NC_000009.12:106910363:TTTT:TTTTGTTTT	NC_000009.12:106910363:TTTT:TTTTGT… NC_000009.12:106910363:TTTT:TTTTGTTTT	(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 rs1491263706

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1491263706