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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.

rs71585821

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:212996624-212996641 (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
delA / dupA / dupAA / dupAAA / dup…

delA / dupA / dupAA / dupAAA / dup(A)5 / dup(A)6

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.00000 (0/11852, ALFA)
dupA=0.00000 (0/11852, ALFA)
dupAA=0.00000 (0/11852, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANGEL2 : 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 Alt HMOZ HTRZ HWEP
Total Global 11852 AAAAAAAAAAAAAAAAAA=1.00000 AAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAA=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 2806 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 106 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African American Sub 2700 AAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 AAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 470 AAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A


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
Allele Frequency Aggregator Total Global 11852 (A)18=1.00000 delA=0.00000, dupA=0.00000, dupAA=0.00000
Allele Frequency Aggregator European Sub 7618 (A)18=1.0000 delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator African Sub 2806 (A)18=1.0000 delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (A)18=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 470 (A)18=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (A)18=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Asian Sub 108 (A)18=1.000 delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator South Asian Sub 94 (A)18=1.00 delA=0.00, dupA=0.00, dupAA=0.00
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 1 NC_000001.11:g.212996641del
GRCh38.p14 chr 1 NC_000001.11:g.212996641dup
GRCh38.p14 chr 1 NC_000001.11:g.212996640_212996641dup
GRCh38.p14 chr 1 NC_000001.11:g.212996639_212996641dup
GRCh38.p14 chr 1 NC_000001.11:g.212996637_212996641dup
GRCh38.p14 chr 1 NC_000001.11:g.212996636_212996641dup
GRCh37.p13 chr 1 NC_000001.10:g.213169983del
GRCh37.p13 chr 1 NC_000001.10:g.213169983dup
GRCh37.p13 chr 1 NC_000001.10:g.213169982_213169983dup
GRCh37.p13 chr 1 NC_000001.10:g.213169981_213169983dup
GRCh37.p13 chr 1 NC_000001.10:g.213169979_213169983dup
GRCh37.p13 chr 1 NC_000001.10:g.213169978_213169983dup
Gene: ANGEL2, angel homolog 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANGEL2 transcript variant 2 NM_001300753.2:c.1105+531…

NM_001300753.2:c.1105+531del

N/A Intron Variant
ANGEL2 transcript variant 3 NM_001300755.2:c.1105+531…

NM_001300755.2:c.1105+531del

N/A Intron Variant
ANGEL2 transcript variant 4 NM_001300757.2:c.976+531d…

NM_001300757.2:c.976+531del

N/A Intron Variant
ANGEL2 transcript variant 5 NM_001300758.2:c.976+531d…

NM_001300758.2:c.976+531del

N/A Intron Variant
ANGEL2 transcript variant 1 NM_144567.5:c.1483+531del N/A Intron Variant
ANGEL2 transcript variant 6 NR_125333.2:n. N/A Intron Variant
ANGEL2 transcript variant X7 XM_005273344.2:c.1417+531…

XM_005273344.2:c.1417+531del

N/A Intron Variant
ANGEL2 transcript variant X3 XM_005273345.2:c.1417+531…

XM_005273345.2:c.1417+531del

N/A Intron Variant
ANGEL2 transcript variant X1 XM_005273346.3:c.1417+531…

XM_005273346.3:c.1417+531del

N/A Intron Variant
ANGEL2 transcript variant X4 XM_005273347.4:c.1246+531…

XM_005273347.4:c.1246+531del

N/A Intron Variant
ANGEL2 transcript variant X2 XM_017002774.2:c.1417+531…

XM_017002774.2:c.1417+531del

N/A Intron Variant
ANGEL2 transcript variant X5 XM_047433784.1:c.1105+531…

XM_047433784.1:c.1105+531del

N/A Intron Variant
ANGEL2 transcript variant X6 XM_047433785.1:c. N/A Genic Downstream Transcript 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 (A)18= delA dupA dupAA dupAAA dup(A)5 dup(A)6
GRCh38.p14 chr 1 NC_000001.11:g.212996624_212996641= NC_000001.11:g.212996641del NC_000001.11:g.212996641dup NC_000001.11:g.212996640_212996641dup NC_000001.11:g.212996639_212996641dup NC_000001.11:g.212996637_212996641dup NC_000001.11:g.212996636_212996641dup
GRCh37.p13 chr 1 NC_000001.10:g.213169966_213169983= NC_000001.10:g.213169983del NC_000001.10:g.213169983dup NC_000001.10:g.213169982_213169983dup NC_000001.10:g.213169981_213169983dup NC_000001.10:g.213169979_213169983dup NC_000001.10:g.213169978_213169983dup
ANGEL2 transcript variant 2 NM_001300753.2:c.1105+531= NM_001300753.2:c.1105+531del NM_001300753.2:c.1105+531dup NM_001300753.2:c.1105+530_1105+531dup NM_001300753.2:c.1105+529_1105+531dup NM_001300753.2:c.1105+527_1105+531dup NM_001300753.2:c.1105+526_1105+531dup
ANGEL2 transcript variant 3 NM_001300755.2:c.1105+531= NM_001300755.2:c.1105+531del NM_001300755.2:c.1105+531dup NM_001300755.2:c.1105+530_1105+531dup NM_001300755.2:c.1105+529_1105+531dup NM_001300755.2:c.1105+527_1105+531dup NM_001300755.2:c.1105+526_1105+531dup
ANGEL2 transcript variant 4 NM_001300757.2:c.976+531= NM_001300757.2:c.976+531del NM_001300757.2:c.976+531dup NM_001300757.2:c.976+530_976+531dup NM_001300757.2:c.976+529_976+531dup NM_001300757.2:c.976+527_976+531dup NM_001300757.2:c.976+526_976+531dup
ANGEL2 transcript variant 5 NM_001300758.2:c.976+531= NM_001300758.2:c.976+531del NM_001300758.2:c.976+531dup NM_001300758.2:c.976+530_976+531dup NM_001300758.2:c.976+529_976+531dup NM_001300758.2:c.976+527_976+531dup NM_001300758.2:c.976+526_976+531dup
ANGEL2 transcript NM_144567.3:c.1483+531= NM_144567.3:c.1483+531del NM_144567.3:c.1483+531dup NM_144567.3:c.1483+530_1483+531dup NM_144567.3:c.1483+529_1483+531dup NM_144567.3:c.1483+527_1483+531dup NM_144567.3:c.1483+526_1483+531dup
ANGEL2 transcript variant 1 NM_144567.5:c.1483+531= NM_144567.5:c.1483+531del NM_144567.5:c.1483+531dup NM_144567.5:c.1483+530_1483+531dup NM_144567.5:c.1483+529_1483+531dup NM_144567.5:c.1483+527_1483+531dup NM_144567.5:c.1483+526_1483+531dup
ANGEL2 transcript variant X1 XM_005273344.1:c.1417+531= XM_005273344.1:c.1417+531del XM_005273344.1:c.1417+531dup XM_005273344.1:c.1417+530_1417+531dup XM_005273344.1:c.1417+529_1417+531dup XM_005273344.1:c.1417+527_1417+531dup XM_005273344.1:c.1417+526_1417+531dup
ANGEL2 transcript variant X7 XM_005273344.2:c.1417+531= XM_005273344.2:c.1417+531del XM_005273344.2:c.1417+531dup XM_005273344.2:c.1417+530_1417+531dup XM_005273344.2:c.1417+529_1417+531dup XM_005273344.2:c.1417+527_1417+531dup XM_005273344.2:c.1417+526_1417+531dup
ANGEL2 transcript variant X2 XM_005273345.1:c.1417+531= XM_005273345.1:c.1417+531del XM_005273345.1:c.1417+531dup XM_005273345.1:c.1417+530_1417+531dup XM_005273345.1:c.1417+529_1417+531dup XM_005273345.1:c.1417+527_1417+531dup XM_005273345.1:c.1417+526_1417+531dup
ANGEL2 transcript variant X3 XM_005273345.2:c.1417+531= XM_005273345.2:c.1417+531del XM_005273345.2:c.1417+531dup XM_005273345.2:c.1417+530_1417+531dup XM_005273345.2:c.1417+529_1417+531dup XM_005273345.2:c.1417+527_1417+531dup XM_005273345.2:c.1417+526_1417+531dup
ANGEL2 transcript variant X3 XM_005273346.1:c.1417+531= XM_005273346.1:c.1417+531del XM_005273346.1:c.1417+531dup XM_005273346.1:c.1417+530_1417+531dup XM_005273346.1:c.1417+529_1417+531dup XM_005273346.1:c.1417+527_1417+531dup XM_005273346.1:c.1417+526_1417+531dup
ANGEL2 transcript variant X1 XM_005273346.3:c.1417+531= XM_005273346.3:c.1417+531del XM_005273346.3:c.1417+531dup XM_005273346.3:c.1417+530_1417+531dup XM_005273346.3:c.1417+529_1417+531dup XM_005273346.3:c.1417+527_1417+531dup XM_005273346.3:c.1417+526_1417+531dup
ANGEL2 transcript variant X4 XM_005273347.1:c.1246+531= XM_005273347.1:c.1246+531del XM_005273347.1:c.1246+531dup XM_005273347.1:c.1246+530_1246+531dup XM_005273347.1:c.1246+529_1246+531dup XM_005273347.1:c.1246+527_1246+531dup XM_005273347.1:c.1246+526_1246+531dup
ANGEL2 transcript variant X4 XM_005273347.4:c.1246+531= XM_005273347.4:c.1246+531del XM_005273347.4:c.1246+531dup XM_005273347.4:c.1246+530_1246+531dup XM_005273347.4:c.1246+529_1246+531dup XM_005273347.4:c.1246+527_1246+531dup XM_005273347.4:c.1246+526_1246+531dup
ANGEL2 transcript variant X5 XM_005273348.1:c.1105+531= XM_005273348.1:c.1105+531del XM_005273348.1:c.1105+531dup XM_005273348.1:c.1105+530_1105+531dup XM_005273348.1:c.1105+529_1105+531dup XM_005273348.1:c.1105+527_1105+531dup XM_005273348.1:c.1105+526_1105+531dup
ANGEL2 transcript variant X6 XM_005273349.1:c.976+531= XM_005273349.1:c.976+531del XM_005273349.1:c.976+531dup XM_005273349.1:c.976+530_976+531dup XM_005273349.1:c.976+529_976+531dup XM_005273349.1:c.976+527_976+531dup XM_005273349.1:c.976+526_976+531dup
ANGEL2 transcript variant X2 XM_017002774.2:c.1417+531= XM_017002774.2:c.1417+531del XM_017002774.2:c.1417+531dup XM_017002774.2:c.1417+530_1417+531dup XM_017002774.2:c.1417+529_1417+531dup XM_017002774.2:c.1417+527_1417+531dup XM_017002774.2:c.1417+526_1417+531dup
ANGEL2 transcript variant X5 XM_047433784.1:c.1105+531= XM_047433784.1:c.1105+531del XM_047433784.1:c.1105+531dup XM_047433784.1:c.1105+530_1105+531dup XM_047433784.1:c.1105+529_1105+531dup XM_047433784.1:c.1105+527_1105+531dup XM_047433784.1:c.1105+526_1105+531dup
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#.

6 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss98586333 Feb 13, 2009 (130)
2 GNOMAD ss4010843011 Apr 27, 2021 (155)
3 GNOMAD ss4010843012 Apr 27, 2021 (155)
4 GNOMAD ss4010843013 Apr 27, 2021 (155)
5 GNOMAD ss4010843014 Apr 27, 2021 (155)
6 1000G_HIGH_COVERAGE ss5245705502 Oct 17, 2022 (156)
7 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38811735 (NC_000001.11:212996623::A 8/21494)
Row 38811736 (NC_000001.11:212996623::AAA 4/21496)
Row 38811737 (NC_000001.11:212996623::AAAAA 2/21494)...

- Apr 27, 2021 (155)
8 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38811735 (NC_000001.11:212996623::A 8/21494)
Row 38811736 (NC_000001.11:212996623::AAA 4/21496)
Row 38811737 (NC_000001.11:212996623::AAAAA 2/21494)...

- Apr 27, 2021 (155)
9 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38811735 (NC_000001.11:212996623::A 8/21494)
Row 38811736 (NC_000001.11:212996623::AAA 4/21496)
Row 38811737 (NC_000001.11:212996623::AAAAA 2/21494)...

- Apr 27, 2021 (155)
10 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38811735 (NC_000001.11:212996623::A 8/21494)
Row 38811736 (NC_000001.11:212996623::AAA 4/21496)
Row 38811737 (NC_000001.11:212996623::AAAAA 2/21494)...

- Apr 27, 2021 (155)
11 ALFA NC_000001.11 - 212996624 Apr 27, 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4010843014 NC_000001.11:212996623:A: NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
4978405737 NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4010843011, ss5245705502 NC_000001.11:212996623::A NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4978405737 NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4978405737 NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4010843012 NC_000001.11:212996623::AAA NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4010843013 NC_000001.11:212996623::AAAAA NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss98586333 NT_167186.1:6687760:A:AAAAAAA NC_000001.11:212996623:AAAAAAAAAAA…

NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(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 rs71585821

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.post820+afb47a3d