Name: rs11301093
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.

rs11301093

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:206640548-206640568 (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: del(T)₈ / del(T)₅ / del(T)₄ / delT…
del(T)₈ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.3323 (1664/5008, 1000G)
(T)₂₁=0.1936 (864/4462, ALFA)
(T)₂₁=0.288 (172/598, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DYRK3 : 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	4462	TTTTTTTTTTTTTTTTTTTTT=0.1936	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.8064, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.069027	0.681757	0.249216	32
European	Sub	4454	TTTTTTTTTTTTTTTTTTTTT=0.1938	TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.8062, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.069151	0.681634	0.249214	32
African	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 2	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	8	TTTTTTTTTTTTTTTTTTTTT=0.1	TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.9, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0	0.0	0.75	0.25	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
1000Genomes	Global	Study-wide	5008	(T)₂₁=0.6677	delT=0.3323
1000Genomes	African	Sub	1322	(T)₂₁=0.6861	delT=0.3139
1000Genomes	East Asian	Sub	1008	(T)₂₁=0.6706	delT=0.3294
1000Genomes	Europe	Sub	1006	(T)₂₁=0.6521	delT=0.3479
1000Genomes	South Asian	Sub	978	(T)₂₁=0.671	delT=0.329
1000Genomes	American	Sub	694	(T)₂₁=0.647	delT=0.353
Allele Frequency Aggregator	Total	Global	4462	(T)₂₁=0.1936	del(T)₈=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.8064, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	European	Sub	4454	(T)₂₁=0.1938	del(T)₈=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.8062, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Other	Sub	8	(T)₂₁=0.1	del(T)₈=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.9, dupT=0.0, dupTT=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(T)₂₁=0	del(T)₈=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(T)₂₁=0	del(T)₈=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₂₁=0	del(T)₈=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Allele Frequency Aggregator	African	Sub	0	(T)₂₁=0	del(T)₈=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₁=0	del(T)₈=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0
Northern Sweden	ACPOP	Study-wide	598	(T)₂₁=0.288	delT=0.712

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.206640561_206640568del
GRCh38.p14 chr 1	NC_000001.11:g.206640564_206640568del
GRCh38.p14 chr 1	NC_000001.11:g.206640565_206640568del
GRCh38.p14 chr 1	NC_000001.11:g.206640566_206640568del
GRCh38.p14 chr 1	NC_000001.11:g.206640567_206640568del
GRCh38.p14 chr 1	NC_000001.11:g.206640568del
GRCh38.p14 chr 1	NC_000001.11:g.206640568dup
GRCh38.p14 chr 1	NC_000001.11:g.206640567_206640568dup
GRCh38.p14 chr 1	NC_000001.11:g.206640561_206640568dup
GRCh37.p13 chr 1	NC_000001.10:g.206813906_206813913del
GRCh37.p13 chr 1	NC_000001.10:g.206813909_206813913del
GRCh37.p13 chr 1	NC_000001.10:g.206813910_206813913del
GRCh37.p13 chr 1	NC_000001.10:g.206813911_206813913del
GRCh37.p13 chr 1	NC_000001.10:g.206813912_206813913del
GRCh37.p13 chr 1	NC_000001.10:g.206813913del
GRCh37.p13 chr 1	NC_000001.10:g.206813913dup
GRCh37.p13 chr 1	NC_000001.10:g.206813912_206813913dup
GRCh37.p13 chr 1	NC_000001.10:g.206813906_206813913dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631415_631422del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631418_631422del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631419_631422del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631420_631422del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631421_631422del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631422del
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631422dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631421_631422dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631415_631422dup

Gene: DYRK3, dual specificity tyrosine phosphorylation regulated kinase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DYRK3 transcript variant 2	NM_001004023.3:c.129+2800… NM_001004023.3:c.129+2800_129+2807del	N/A	Intron Variant
DYRK3 transcript variant 1	NM_003582.4:c.189+2800_18… NM_003582.4:c.189+2800_189+2807del	N/A	Intron Variant
DYRK3 transcript variant X1	XM_005273315.5:c.129+2800… XM_005273315.5:c.129+2800_129+2807del	N/A	Intron Variant
DYRK3 transcript variant X4	XM_011510061.3:c.84+2800_… XM_011510061.3:c.84+2800_84+2807del	N/A	Intron Variant
DYRK3 transcript variant X2	XM_047432114.1:c.129+2800… XM_047432114.1:c.129+2800_129+2807del	N/A	Intron Variant
DYRK3 transcript variant X3	XM_047432115.1:c.129+2800… XM_047432115.1:c.129+2800_129+2807del	N/A	Intron Variant
DYRK3 transcript variant X5	XM_047432118.1:c.84+2800_… XM_047432118.1:c.84+2800_84+2807del	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	(T)₂₁=	del(T)₈	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dup(T)₈
GRCh38.p14 chr 1	NC_000001.11:g.206640548_206640568=	NC_000001.11:g.206640561_206640568del	NC_000001.11:g.206640564_206640568del	NC_000001.11:g.206640565_206640568del	NC_000001.11:g.206640566_206640568del	NC_000001.11:g.206640567_206640568del	NC_000001.11:g.206640568del	NC_000001.11:g.206640568dup	NC_000001.11:g.206640567_206640568dup	NC_000001.11:g.206640561_206640568dup
GRCh37.p13 chr 1	NC_000001.10:g.206813893_206813913=	NC_000001.10:g.206813906_206813913del	NC_000001.10:g.206813909_206813913del	NC_000001.10:g.206813910_206813913del	NC_000001.10:g.206813911_206813913del	NC_000001.10:g.206813912_206813913del	NC_000001.10:g.206813913del	NC_000001.10:g.206813913dup	NC_000001.10:g.206813912_206813913dup	NC_000001.10:g.206813906_206813913dup
GRCh37.p13 chr 1 fix patch HG1293_PATCH	NW_003871057.1:g.631402_631422=	NW_003871057.1:g.631415_631422del	NW_003871057.1:g.631418_631422del	NW_003871057.1:g.631419_631422del	NW_003871057.1:g.631420_631422del	NW_003871057.1:g.631421_631422del	NW_003871057.1:g.631422del	NW_003871057.1:g.631422dup	NW_003871057.1:g.631421_631422dup	NW_003871057.1:g.631415_631422dup
DYRK3 transcript variant 2	NM_001004023.1:c.129+2787=	NM_001004023.1:c.129+2800_129+2807del	NM_001004023.1:c.129+2803_129+2807del	NM_001004023.1:c.129+2804_129+2807del	NM_001004023.1:c.129+2805_129+2807del	NM_001004023.1:c.129+2806_129+2807del	NM_001004023.1:c.129+2807del	NM_001004023.1:c.129+2807dup	NM_001004023.1:c.129+2806_129+2807dup	NM_001004023.1:c.129+2800_129+2807dup
DYRK3 transcript variant 2	NM_001004023.3:c.129+2787=	NM_001004023.3:c.129+2800_129+2807del	NM_001004023.3:c.129+2803_129+2807del	NM_001004023.3:c.129+2804_129+2807del	NM_001004023.3:c.129+2805_129+2807del	NM_001004023.3:c.129+2806_129+2807del	NM_001004023.3:c.129+2807del	NM_001004023.3:c.129+2807dup	NM_001004023.3:c.129+2806_129+2807dup	NM_001004023.3:c.129+2800_129+2807dup
DYRK3 transcript variant 1	NM_003582.2:c.189+2787=	NM_003582.2:c.189+2800_189+2807del	NM_003582.2:c.189+2803_189+2807del	NM_003582.2:c.189+2804_189+2807del	NM_003582.2:c.189+2805_189+2807del	NM_003582.2:c.189+2806_189+2807del	NM_003582.2:c.189+2807del	NM_003582.2:c.189+2807dup	NM_003582.2:c.189+2806_189+2807dup	NM_003582.2:c.189+2800_189+2807dup
DYRK3 transcript variant 1	NM_003582.4:c.189+2787=	NM_003582.4:c.189+2800_189+2807del	NM_003582.4:c.189+2803_189+2807del	NM_003582.4:c.189+2804_189+2807del	NM_003582.4:c.189+2805_189+2807del	NM_003582.4:c.189+2806_189+2807del	NM_003582.4:c.189+2807del	NM_003582.4:c.189+2807dup	NM_003582.4:c.189+2806_189+2807dup	NM_003582.4:c.189+2800_189+2807dup
DYRK3 transcript variant X1	XM_005273315.1:c.129+2787=	XM_005273315.1:c.129+2800_129+2807del	XM_005273315.1:c.129+2803_129+2807del	XM_005273315.1:c.129+2804_129+2807del	XM_005273315.1:c.129+2805_129+2807del	XM_005273315.1:c.129+2806_129+2807del	XM_005273315.1:c.129+2807del	XM_005273315.1:c.129+2807dup	XM_005273315.1:c.129+2806_129+2807dup	XM_005273315.1:c.129+2800_129+2807dup
DYRK3 transcript variant X1	XM_005273315.5:c.129+2787=	XM_005273315.5:c.129+2800_129+2807del	XM_005273315.5:c.129+2803_129+2807del	XM_005273315.5:c.129+2804_129+2807del	XM_005273315.5:c.129+2805_129+2807del	XM_005273315.5:c.129+2806_129+2807del	XM_005273315.5:c.129+2807del	XM_005273315.5:c.129+2807dup	XM_005273315.5:c.129+2806_129+2807dup	XM_005273315.5:c.129+2800_129+2807dup
DYRK3 transcript variant X2	XM_005273316.1:c.129+2787=	XM_005273316.1:c.129+2800_129+2807del	XM_005273316.1:c.129+2803_129+2807del	XM_005273316.1:c.129+2804_129+2807del	XM_005273316.1:c.129+2805_129+2807del	XM_005273316.1:c.129+2806_129+2807del	XM_005273316.1:c.129+2807del	XM_005273316.1:c.129+2807dup	XM_005273316.1:c.129+2806_129+2807dup	XM_005273316.1:c.129+2800_129+2807dup
DYRK3 transcript variant X1	XM_005277518.1:c.129+2787=	XM_005277518.1:c.129+2800_129+2807del	XM_005277518.1:c.129+2803_129+2807del	XM_005277518.1:c.129+2804_129+2807del	XM_005277518.1:c.129+2805_129+2807del	XM_005277518.1:c.129+2806_129+2807del	XM_005277518.1:c.129+2807del	XM_005277518.1:c.129+2807dup	XM_005277518.1:c.129+2806_129+2807dup	XM_005277518.1:c.129+2800_129+2807dup
DYRK3 transcript variant X2	XM_005277519.1:c.129+2787=	XM_005277519.1:c.129+2800_129+2807del	XM_005277519.1:c.129+2803_129+2807del	XM_005277519.1:c.129+2804_129+2807del	XM_005277519.1:c.129+2805_129+2807del	XM_005277519.1:c.129+2806_129+2807del	XM_005277519.1:c.129+2807del	XM_005277519.1:c.129+2807dup	XM_005277519.1:c.129+2806_129+2807dup	XM_005277519.1:c.129+2800_129+2807dup
DYRK3 transcript variant X4	XM_011510061.3:c.84+2787=	XM_011510061.3:c.84+2800_84+2807del	XM_011510061.3:c.84+2803_84+2807del	XM_011510061.3:c.84+2804_84+2807del	XM_011510061.3:c.84+2805_84+2807del	XM_011510061.3:c.84+2806_84+2807del	XM_011510061.3:c.84+2807del	XM_011510061.3:c.84+2807dup	XM_011510061.3:c.84+2806_84+2807dup	XM_011510061.3:c.84+2800_84+2807dup
DYRK3 transcript variant X2	XM_047432114.1:c.129+2787=	XM_047432114.1:c.129+2800_129+2807del	XM_047432114.1:c.129+2803_129+2807del	XM_047432114.1:c.129+2804_129+2807del	XM_047432114.1:c.129+2805_129+2807del	XM_047432114.1:c.129+2806_129+2807del	XM_047432114.1:c.129+2807del	XM_047432114.1:c.129+2807dup	XM_047432114.1:c.129+2806_129+2807dup	XM_047432114.1:c.129+2800_129+2807dup
DYRK3 transcript variant X3	XM_047432115.1:c.129+2787=	XM_047432115.1:c.129+2800_129+2807del	XM_047432115.1:c.129+2803_129+2807del	XM_047432115.1:c.129+2804_129+2807del	XM_047432115.1:c.129+2805_129+2807del	XM_047432115.1:c.129+2806_129+2807del	XM_047432115.1:c.129+2807del	XM_047432115.1:c.129+2807dup	XM_047432115.1:c.129+2806_129+2807dup	XM_047432115.1:c.129+2800_129+2807dup
DYRK3 transcript variant X5	XM_047432118.1:c.84+2787=	XM_047432118.1:c.84+2800_84+2807del	XM_047432118.1:c.84+2803_84+2807del	XM_047432118.1:c.84+2804_84+2807del	XM_047432118.1:c.84+2805_84+2807del	XM_047432118.1:c.84+2806_84+2807del	XM_047432118.1:c.84+2807del	XM_047432118.1:c.84+2807dup	XM_047432118.1:c.84+2806_84+2807dup	XM_047432118.1:c.84+2800_84+2807dup

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#.

45 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81025566	Dec 14, 2007 (130)
2	HUMANGENOME_JCVI	ss95253112	Feb 02, 2009 (130)
3	PJP	ss294622072	May 09, 2011 (137)
4	PJP	ss294622073	May 09, 2011 (134)
5	1000GENOMES	ss1367975290	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1701692027	Apr 09, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1701692117	Apr 09, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1709968533	Apr 09, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1709968534	Apr 09, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1709968535	Apr 09, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1709968536	Apr 09, 2015 (144)
12	SWEGEN	ss2988335107	Oct 11, 2018 (152)
13	MCHAISSO	ss3065346818	Nov 08, 2017 (151)
14	URBANLAB	ss3646871668	Oct 11, 2018 (152)
15	EVA_DECODE	ss3688490994	Jul 12, 2019 (153)
16	EVA_DECODE	ss3688490995	Jul 12, 2019 (153)
17	EVA_DECODE	ss3688490996	Jul 12, 2019 (153)
18	EVA_DECODE	ss3688490997	Jul 12, 2019 (153)
19	ACPOP	ss3727799884	Jul 12, 2019 (153)
20	PACBIO	ss3783669112	Jul 12, 2019 (153)
21	PACBIO	ss3789284416	Jul 12, 2019 (153)
22	PACBIO	ss3794156682	Jul 12, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3800254017	Jul 12, 2019 (153)
24	EVA	ss3826607509	Apr 25, 2020 (154)
25	GNOMAD	ss4010082052	Apr 25, 2021 (155)
26	GNOMAD	ss4010082053	Apr 25, 2021 (155)
27	GNOMAD	ss4010082055	Apr 25, 2021 (155)
28	GNOMAD	ss4010082056	Apr 25, 2021 (155)
29	GNOMAD	ss4010082057	Apr 25, 2021 (155)
30	GNOMAD	ss4010082058	Apr 25, 2021 (155)
31	GNOMAD	ss4010082059	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5148116808	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5148116809	Apr 25, 2021 (155)
34	1000G_HIGH_COVERAGE	ss5245553230	Oct 12, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5245553231	Oct 12, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5245553232	Oct 12, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5245553233	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5446012893	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5446012894	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5675788100	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5675788101	Oct 12, 2022 (156)
42	EVA	ss5833163309	Oct 12, 2022 (156)
43	EVA	ss5833163310	Oct 12, 2022 (156)
44	EVA	ss5833163311	Oct 12, 2022 (156)
45	EVA	ss5911688537	Oct 12, 2022 (156)
46	1000Genomes	NC_000001.10 - 206813893	Oct 11, 2018 (152)
47	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2869648 (NC_000001.10:206813892:TTT: 223/3854) Row 2869650 (NC_000001.10:206813893:T: 1905/3854)	-	Oct 11, 2018 (152)
48	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2869648 (NC_000001.10:206813892:TTT: 223/3854) Row 2869650 (NC_000001.10:206813893:T: 1905/3854)	-	Oct 11, 2018 (152)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 37556715 (NC_000001.11:206640547::T 43/115978) Row 37556716 (NC_000001.11:206640547::TT 2/115988) Row 37556718 (NC_000001.11:206640547:T: 109911/116018)...	-	Apr 25, 2021 (155)
56	Northern Sweden	NC_000001.10 - 206813893	Jul 12, 2019 (153)
57	8.3KJPN Submission ignored due to conflicting rows: Row 6086115 (NC_000001.10:206813892:T: 16106/16630) Row 6086116 (NC_000001.10:206813892:TT: 129/16630)	-	Apr 25, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 6086115 (NC_000001.10:206813892:T: 16106/16630) Row 6086116 (NC_000001.10:206813892:TT: 129/16630)	-	Apr 25, 2021 (155)
59	14KJPN Submission ignored due to conflicting rows: Row 9625204 (NC_000001.11:206640547:T: 27502/28214) Row 9625205 (NC_000001.11:206640547:TT: 177/28214)	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 9625204 (NC_000001.11:206640547:T: 27502/28214) Row 9625205 (NC_000001.11:206640547:TT: 177/28214)	-	Oct 12, 2022 (156)
61	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2869648 (NC_000001.10:206813892:TTT: 176/3708) Row 2869650 (NC_000001.10:206813893:T: 1807/3708)	-	Oct 11, 2018 (152)
62	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2869648 (NC_000001.10:206813892:TTT: 176/3708) Row 2869649 (NC_000001.10:206813894:T: 1725/3708) Row 2869650 (NC_000001.10:206813893:TT: 1807/3708)	-	Apr 25, 2020 (154)
63	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2869648 (NC_000001.10:206813892:TTT: 176/3708) Row 2869650 (NC_000001.10:206813893:T: 1807/3708)	-	Oct 11, 2018 (152)
64	ALFA	NC_000001.11 - 206640548	Apr 25, 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).

Associated ID	History Updated (Build)
rs56662020	May 23, 2008 (130)
rs67016780	May 11, 2012 (137)
rs67016781	Feb 26, 2009 (130)
rs139421368	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4010082059	NC_000001.11:206640547:TTTTT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4010082058	NC_000001.11:206640547:TTTT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1701692027, ss1701692117, ss5833163311	NC_000001.10:206813892:TTT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3688490994, ss4010082057, ss5245553232	NC_000001.11:206640547:TTT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3783669112, ss3826607509, ss5148116809, ss5833163309	NC_000001.10:206813892:TT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1709968535, ss1709968536	NC_000001.10:206813893:TT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3065346818, ss4010082056, ss5245553231, ss5446012893, ss5675788101	NC_000001.11:206640547:TT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3688490995	NC_000001.11:206640548:TT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss81025566	NC_000001.8:203202307:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294622072	NC_000001.9:204880515:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss294622073	NC_000001.9:204880535:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
5211542, 1084749, ss1367975290, ss2988335107, ss3727799884, ss3789284416, ss3794156682, ss5148116808, ss5833163310	NC_000001.10:206813892:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
	NC_000001.10:206813893:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1709968533, ss1709968534	NC_000001.10:206813894:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3646871668, ss3800254017, ss4010082055, ss5245553230, ss5446012894, ss5675788100, ss5911688537	NC_000001.11:206640547:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3688490996	NC_000001.11:206640549:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss95253112	NT_167186.1:331691:T:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4010082052, ss5245553233	NC_000001.11:206640547::T	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4010082053	NC_000001.11:206640547::TT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
11322669095	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3688490997	NC_000001.11:206640550::TTTTTTTT	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3101587994	NC_000001.11:206640547:TTTTTTTT:	NC_000001.11:206640547:TTTTTTTTTTT… NC_000001.11:206640547:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

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

No publications for rs11301093

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11301093