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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.

rs1049966343

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:244907-244922 (GRCh38.p13) 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
delTCTTACAGATAC
Variation Type
Indel Insertion and Deletion
Frequency
delTCTTACAGATAC=0.000038 (10/264690, TOPMED)
delTCTTACAGATAC=0.000036 (5/140304, GnomAD)
delTCTTACAGATAC=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZMYND11 : Intron Variant
LOC107984190 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 10 NC_000010.11:g.244911_244922del
GRCh37.p13 chr 10 NC_000010.10:g.290851_290862del
ZMYND11 RefSeqGene NG_029960.1:g.115447_115458del
Gene: ZMYND11, zinc finger MYND-type containing 11 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZMYND11 transcript variant 4 NM_001202464.3:c.789-1855…

NM_001202464.3:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 5 NM_001202465.3:c.696-1855…

NM_001202465.3:c.696-1855_696-1844del

N/A Intron Variant
ZMYND11 transcript variant 6 NM_001202466.3:c.786-1855…

NM_001202466.3:c.786-1855_786-1844del

N/A Intron Variant
ZMYND11 transcript variant 7 NM_001202467.1:c.789-1855…

NM_001202467.1:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 8 NM_001202468.1:c.951-1855…

NM_001202468.1:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 9 NM_001330057.3:c.900-1855…

NM_001330057.3:c.900-1855_900-1844del

N/A Intron Variant
ZMYND11 transcript variant 10 NM_001370097.3:c.951-1855…

NM_001370097.3:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 11 NM_001370098.2:c.951-1855…

NM_001370098.2:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 12 NM_001370099.2:c.951-1855…

NM_001370099.2:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 13 NM_001370100.5:c.951-1855…

NM_001370100.5:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 14 NM_001370101.2:c.951-1855…

NM_001370101.2:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 15 NM_001370102.2:c.951-1855…

NM_001370102.2:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 16 NM_001370103.2:c.789-1855…

NM_001370103.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 17 NM_001370104.2:c.789-1855…

NM_001370104.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 18 NM_001370105.2:c.789-1855…

NM_001370105.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 19 NM_001370106.2:c.789-1855…

NM_001370106.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 20 NM_001370107.2:c.789-1855…

NM_001370107.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 21 NM_001370108.2:c.789-1855…

NM_001370108.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 22 NM_001370109.2:c.789-1855…

NM_001370109.2:c.789-1855_789-1844del

N/A Intron Variant
ZMYND11 transcript variant 23 NM_001370110.2:c.696-1855…

NM_001370110.2:c.696-1855_696-1844del

N/A Intron Variant
ZMYND11 transcript variant 24 NM_001370111.2:c.786-1855…

NM_001370111.2:c.786-1855_786-1844del

N/A Intron Variant
ZMYND11 transcript variant 25 NM_001370112.2:c.900-1855…

NM_001370112.2:c.900-1855_900-1844del

N/A Intron Variant
ZMYND11 transcript variant 26 NM_001370113.2:c.858-1855…

NM_001370113.2:c.858-1855_858-1844del

N/A Intron Variant
ZMYND11 transcript variant 27 NM_001370114.2:c.858-1855…

NM_001370114.2:c.858-1855_858-1844del

N/A Intron Variant
ZMYND11 transcript variant 28 NM_001370115.2:c.948-1855…

NM_001370115.2:c.948-1855_948-1844del

N/A Intron Variant
ZMYND11 transcript variant 29 NM_001370116.2:c.885-1855…

NM_001370116.2:c.885-1855_885-1844del

N/A Intron Variant
ZMYND11 transcript variant 30 NM_001370117.2:c.951-1855…

NM_001370117.2:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 31 NM_001370118.2:c.831-1855…

NM_001370118.2:c.831-1855_831-1844del

N/A Intron Variant
ZMYND11 transcript variant 32 NM_001370119.2:c.873-1855…

NM_001370119.2:c.873-1855_873-1844del

N/A Intron Variant
ZMYND11 transcript variant 33 NM_001370120.2:c.723-1855…

NM_001370120.2:c.723-1855_723-1844del

N/A Intron Variant
ZMYND11 transcript variant 34 NM_001370121.2:c.669-1855…

NM_001370121.2:c.669-1855_669-1844del

N/A Intron Variant
ZMYND11 transcript variant 35 NM_001370122.2:c.645-1855…

NM_001370122.2:c.645-1855_645-1844del

N/A Intron Variant
ZMYND11 transcript variant 36 NM_001370123.2:c.594-1855…

NM_001370123.2:c.594-1855_594-1844del

N/A Intron Variant
ZMYND11 transcript variant 37 NM_001370124.3:c.480-1855…

NM_001370124.3:c.480-1855_480-1844del

N/A Intron Variant
ZMYND11 transcript variant 1 NM_006624.7:c.951-1855_95…

NM_006624.7:c.951-1855_951-1844del

N/A Intron Variant
ZMYND11 transcript variant 2 NM_212479.4:c.948-1855_94…

NM_212479.4:c.948-1855_948-1844del

N/A Intron Variant
ZMYND11 transcript variant 38 NR_163254.2:n. N/A Intron Variant
ZMYND11 transcript variant X12 XM_017015594.1:c.738-1855…

XM_017015594.1:c.738-1855_738-1844del

N/A Intron Variant
Gene: LOC107984190, uncharacterized LOC107984190 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC107984190 transcript XR_001747314.1:n. N/A Intron 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 14050 ATACTCTTACAGATAC=1.00000 ATAC=0.00000
European Sub 9690 ATACTCTTACAGATAC=1.0000 ATAC=0.0000
African Sub 2898 ATACTCTTACAGATAC=1.0000 ATAC=0.0000
African Others Sub 114 ATACTCTTACAGATAC=1.000 ATAC=0.000
African American Sub 2784 ATACTCTTACAGATAC=1.0000 ATAC=0.0000
Asian Sub 112 ATACTCTTACAGATAC=1.000 ATAC=0.000
East Asian Sub 86 ATACTCTTACAGATAC=1.00 ATAC=0.00
Other Asian Sub 26 ATACTCTTACAGATAC=1.00 ATAC=0.00
Latin American 1 Sub 146 ATACTCTTACAGATAC=1.000 ATAC=0.000
Latin American 2 Sub 610 ATACTCTTACAGATAC=1.000 ATAC=0.000
South Asian Sub 98 ATACTCTTACAGATAC=1.00 ATAC=0.00
Other Sub 496 ATACTCTTACAGATAC=1.000 ATAC=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
TopMed Global Study-wide 264690 ATACTCTTACAGATAC=0.999962 delTCTTACAGATAC=0.000038
gnomAD - Genomes Global Study-wide 140304 ATACTCTTACAGATAC=0.999964 delTCTTACAGATAC=0.000036
gnomAD - Genomes European Sub 75966 ATACTCTTACAGATAC=1.00000 delTCTTACAGATAC=0.00000
gnomAD - Genomes African Sub 42066 ATACTCTTACAGATAC=1.00000 delTCTTACAGATAC=0.00000
gnomAD - Genomes American Sub 13660 ATACTCTTACAGATAC=0.99963 delTCTTACAGATAC=0.00037
gnomAD - Genomes Ashkenazi Jewish Sub 3324 ATACTCTTACAGATAC=1.0000 delTCTTACAGATAC=0.0000
gnomAD - Genomes East Asian Sub 3134 ATACTCTTACAGATAC=1.0000 delTCTTACAGATAC=0.0000
gnomAD - Genomes Other Sub 2154 ATACTCTTACAGATAC=1.0000 delTCTTACAGATAC=0.0000
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 ATACTCTTACAGATAC= delTCTTACAGATAC
GRCh38.p13 chr 10 NC_000010.11:g.244907_244922= NC_000010.11:g.244911_244922del
GRCh37.p13 chr 10 NC_000010.10:g.290847_290862= NC_000010.10:g.290851_290862del
ZMYND11 RefSeqGene NG_029960.1:g.115443_115458= NG_029960.1:g.115447_115458del
ZMYND11 transcript variant 4 NM_001202464.1:c.789-1859= NM_001202464.1:c.789-1855_789-1844del
ZMYND11 transcript variant 4 NM_001202464.3:c.789-1859= NM_001202464.3:c.789-1855_789-1844del
ZMYND11 transcript variant 5 NM_001202465.1:c.696-1859= NM_001202465.1:c.696-1855_696-1844del
ZMYND11 transcript variant 5 NM_001202465.3:c.696-1859= NM_001202465.3:c.696-1855_696-1844del
ZMYND11 transcript variant 6 NM_001202466.1:c.786-1859= NM_001202466.1:c.786-1855_786-1844del
ZMYND11 transcript variant 6 NM_001202466.3:c.786-1859= NM_001202466.3:c.786-1855_786-1844del
ZMYND11 transcript variant 7 NM_001202467.1:c.789-1859= NM_001202467.1:c.789-1855_789-1844del
ZMYND11 transcript variant 8 NM_001202468.1:c.951-1859= NM_001202468.1:c.951-1855_951-1844del
ZMYND11 transcript variant 9 NM_001330057.3:c.900-1859= NM_001330057.3:c.900-1855_900-1844del
ZMYND11 transcript variant 10 NM_001370097.3:c.951-1859= NM_001370097.3:c.951-1855_951-1844del
ZMYND11 transcript variant 11 NM_001370098.2:c.951-1859= NM_001370098.2:c.951-1855_951-1844del
ZMYND11 transcript variant 12 NM_001370099.2:c.951-1859= NM_001370099.2:c.951-1855_951-1844del
ZMYND11 transcript variant 13 NM_001370100.5:c.951-1859= NM_001370100.5:c.951-1855_951-1844del
ZMYND11 transcript variant 14 NM_001370101.2:c.951-1859= NM_001370101.2:c.951-1855_951-1844del
ZMYND11 transcript variant 15 NM_001370102.2:c.951-1859= NM_001370102.2:c.951-1855_951-1844del
ZMYND11 transcript variant 16 NM_001370103.2:c.789-1859= NM_001370103.2:c.789-1855_789-1844del
ZMYND11 transcript variant 17 NM_001370104.2:c.789-1859= NM_001370104.2:c.789-1855_789-1844del
ZMYND11 transcript variant 18 NM_001370105.2:c.789-1859= NM_001370105.2:c.789-1855_789-1844del
ZMYND11 transcript variant 19 NM_001370106.2:c.789-1859= NM_001370106.2:c.789-1855_789-1844del
ZMYND11 transcript variant 20 NM_001370107.2:c.789-1859= NM_001370107.2:c.789-1855_789-1844del
ZMYND11 transcript variant 21 NM_001370108.2:c.789-1859= NM_001370108.2:c.789-1855_789-1844del
ZMYND11 transcript variant 22 NM_001370109.2:c.789-1859= NM_001370109.2:c.789-1855_789-1844del
ZMYND11 transcript variant 23 NM_001370110.2:c.696-1859= NM_001370110.2:c.696-1855_696-1844del
ZMYND11 transcript variant 24 NM_001370111.2:c.786-1859= NM_001370111.2:c.786-1855_786-1844del
ZMYND11 transcript variant 25 NM_001370112.2:c.900-1859= NM_001370112.2:c.900-1855_900-1844del
ZMYND11 transcript variant 26 NM_001370113.2:c.858-1859= NM_001370113.2:c.858-1855_858-1844del
ZMYND11 transcript variant 27 NM_001370114.2:c.858-1859= NM_001370114.2:c.858-1855_858-1844del
ZMYND11 transcript variant 28 NM_001370115.2:c.948-1859= NM_001370115.2:c.948-1855_948-1844del
ZMYND11 transcript variant 29 NM_001370116.2:c.885-1859= NM_001370116.2:c.885-1855_885-1844del
ZMYND11 transcript variant 30 NM_001370117.2:c.951-1859= NM_001370117.2:c.951-1855_951-1844del
ZMYND11 transcript variant 31 NM_001370118.2:c.831-1859= NM_001370118.2:c.831-1855_831-1844del
ZMYND11 transcript variant 32 NM_001370119.2:c.873-1859= NM_001370119.2:c.873-1855_873-1844del
ZMYND11 transcript variant 33 NM_001370120.2:c.723-1859= NM_001370120.2:c.723-1855_723-1844del
ZMYND11 transcript variant 34 NM_001370121.2:c.669-1859= NM_001370121.2:c.669-1855_669-1844del
ZMYND11 transcript variant 35 NM_001370122.2:c.645-1859= NM_001370122.2:c.645-1855_645-1844del
ZMYND11 transcript variant 36 NM_001370123.2:c.594-1859= NM_001370123.2:c.594-1855_594-1844del
ZMYND11 transcript variant 37 NM_001370124.3:c.480-1859= NM_001370124.3:c.480-1855_480-1844del
ZMYND11 transcript variant 1 NM_006624.5:c.951-1859= NM_006624.5:c.951-1855_951-1844del
ZMYND11 transcript variant 1 NM_006624.7:c.951-1859= NM_006624.7:c.951-1855_951-1844del
ZMYND11 transcript variant 2 NM_212479.3:c.948-1859= NM_212479.3:c.948-1855_948-1844del
ZMYND11 transcript variant 2 NM_212479.4:c.948-1859= NM_212479.4:c.948-1855_948-1844del
ZMYND11 transcript variant X1 XM_005252359.1:c.951-1859= XM_005252359.1:c.951-1855_951-1844del
ZMYND11 transcript variant X2 XM_005252360.1:c.948-1859= XM_005252360.1:c.948-1855_948-1844del
ZMYND11 transcript variant X3 XM_005252361.1:c.789-1859= XM_005252361.1:c.789-1855_789-1844del
ZMYND11 transcript variant X5 XM_005252362.1:c.789-1859= XM_005252362.1:c.789-1855_789-1844del
ZMYND11 transcript variant X5 XM_005252363.1:c.786-1859= XM_005252363.1:c.786-1855_786-1844del
ZMYND11 transcript variant X12 XM_017015594.1:c.738-1859= XM_017015594.1:c.738-1855_738-1844del
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#.

4 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 TOPMED ss2136342936 Dec 20, 2016 (150)
2 TOPMED ss3109363051 Nov 08, 2017 (151)
3 GNOMAD ss4211439034 Apr 26, 2021 (155)
4 TOPMED ss4839565318 Apr 26, 2021 (155)
5 gnomAD - Genomes NC_000010.11 - 244907 Apr 26, 2021 (155)
6 TopMed NC_000010.11 - 244907 Apr 26, 2021 (155)
7 ALFA NC_000010.11 - 244907 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2136342936 NC_000010.10:290846:ATACTCTTACAG: NC_000010.11:244906:ATACTCTTACAGAT…

NC_000010.11:244906:ATACTCTTACAGATAC:ATAC

(self)
340967986, 34628508, 55110973, ss3109363051, ss4211439034, ss4839565318 NC_000010.11:244906:ATACTCTTACAG: NC_000010.11:244906:ATACTCTTACAGAT…

NC_000010.11:244906:ATACTCTTACAGATAC:ATAC

(self)
2857058597 NC_000010.11:244906:ATACTCTTACAGAT…

NC_000010.11:244906:ATACTCTTACAGATAC:ATAC

NC_000010.11:244906:ATACTCTTACAGAT…

NC_000010.11:244906:ATACTCTTACAGATAC:ATAC

(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 rs1049966343

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.post596+ae089ad