Name: rs58040604
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.

rs58040604

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:21541593-21541611 (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(A)₉ / del(A)₈ / del(A)₆ / del(…
del(A)₉ / del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₂ / ins(A)₂₃ / ins(A)₄₀
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₉=0.2812 (1408/5008, 1000G)
del(A)₉=0.000 (0/154, ALFA)
del(A)₈=0.000 (0/154, ALFA) (+ 7 more)
del(A)₆=0.000 (0/154, ALFA)
del(A)₅=0.000 (0/154, ALFA)
del(A)₄=0.000 (0/154, ALFA)
delAAA=0.000 (0/154, ALFA)
delAA=0.000 (0/154, ALFA)
delA=0.000 (0/154, ALFA)
dupA=0.000 (0/154, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ESCO1 : 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	154	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	38	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	108	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	108	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	6	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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	(A)₁₉=0.2812	delA=0.7188
1000Genomes	African	Sub	1322	(A)₁₉=0.3502	delA=0.6498
1000Genomes	East Asian	Sub	1008	(A)₁₉=0.1984	delA=0.8016
1000Genomes	Europe	Sub	1006	(A)₁₉=0.2575	delA=0.7425
1000Genomes	South Asian	Sub	978	(A)₁₉=0.275	delA=0.725
1000Genomes	American	Sub	694	(A)₁₉=0.313	delA=0.687
Allele Frequency Aggregator	Total	Global	154	(A)₁₉=1.000	del(A)₉=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	African	Sub	108	(A)₁₉=1.000	del(A)₉=0.000, del(A)₈=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	European	Sub	38	(A)₁₉=1.00	del(A)₉=0.00, del(A)₈=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Other	Sub	6	(A)₁₉=1.0	del(A)₉=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₁₉=1.0	del(A)₉=0.0, del(A)₈=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₉=0	del(A)₉=0, del(A)₈=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₉=0	del(A)₉=0, del(A)₈=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₉=0	del(A)₉=0, del(A)₈=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0

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 18	NC_000018.10:g.21541603_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541604_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541606_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541607_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541608_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541609_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541610_21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541611del
GRCh38.p14 chr 18	NC_000018.10:g.21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541610_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541609_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541608_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541605_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541604_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541603_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541600_21541611dup
GRCh38.p14 chr 18	NC_000018.10:g.21541611_21541612insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.21541611_21541612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.19121564_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121565_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121567_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121568_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121569_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121570_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121571_19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121572del
GRCh37.p13 chr 18	NC_000018.9:g.19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121571_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121570_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121569_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121566_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121565_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121564_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121561_19121572dup
GRCh37.p13 chr 18	NC_000018.9:g.19121572_19121573insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.19121572_19121573insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: ESCO1, establishment of sister chromatid cohesion N-acetyltransferase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ESCO1 transcript	NM_052911.3:c.1954-1592_1… NM_052911.3:c.1954-1592_1954-1584del	N/A	Intron Variant
ESCO1 transcript variant X1	XM_011525798.2:c.1954-159… XM_011525798.2:c.1954-1592_1954-1584del	N/A	Intron Variant
ESCO1 transcript variant X2	XM_011525799.4:c.1954-541… XM_011525799.4:c.1954-5416_1954-5408del	N/A	Intron Variant
ESCO1 transcript variant X3	XM_047437285.1:c.1954-541… XM_047437285.1:c.1954-5416_1954-5408del	N/A	Intron Variant
ESCO1 transcript variant X4	XM_047437286.1:c.1954-901… XM_047437286.1:c.1954-901_1954-893del	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	(A)₁₉=	del(A)₉	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₂	ins(A)₂₃	ins(A)₄₀
GRCh38.p14 chr 18	NC_000018.10:g.21541593_21541611=	NC_000018.10:g.21541603_21541611del	NC_000018.10:g.21541604_21541611del	NC_000018.10:g.21541606_21541611del	NC_000018.10:g.21541607_21541611del	NC_000018.10:g.21541608_21541611del	NC_000018.10:g.21541609_21541611del	NC_000018.10:g.21541610_21541611del	NC_000018.10:g.21541611del	NC_000018.10:g.21541611dup	NC_000018.10:g.21541610_21541611dup	NC_000018.10:g.21541609_21541611dup	NC_000018.10:g.21541608_21541611dup	NC_000018.10:g.21541605_21541611dup	NC_000018.10:g.21541604_21541611dup	NC_000018.10:g.21541603_21541611dup	NC_000018.10:g.21541600_21541611dup	NC_000018.10:g.21541611_21541612insAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.21541611_21541612insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.19121554_19121572=	NC_000018.9:g.19121564_19121572del	NC_000018.9:g.19121565_19121572del	NC_000018.9:g.19121567_19121572del	NC_000018.9:g.19121568_19121572del	NC_000018.9:g.19121569_19121572del	NC_000018.9:g.19121570_19121572del	NC_000018.9:g.19121571_19121572del	NC_000018.9:g.19121572del	NC_000018.9:g.19121572dup	NC_000018.9:g.19121571_19121572dup	NC_000018.9:g.19121570_19121572dup	NC_000018.9:g.19121569_19121572dup	NC_000018.9:g.19121566_19121572dup	NC_000018.9:g.19121565_19121572dup	NC_000018.9:g.19121564_19121572dup	NC_000018.9:g.19121561_19121572dup	NC_000018.9:g.19121572_19121573insAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.19121572_19121573insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ESCO1 transcript	NM_052911.2:c.1954-1584=	NM_052911.2:c.1954-1592_1954-1584del	NM_052911.2:c.1954-1591_1954-1584del	NM_052911.2:c.1954-1589_1954-1584del	NM_052911.2:c.1954-1588_1954-1584del	NM_052911.2:c.1954-1587_1954-1584del	NM_052911.2:c.1954-1586_1954-1584del	NM_052911.2:c.1954-1585_1954-1584del	NM_052911.2:c.1954-1584del	NM_052911.2:c.1954-1584dup	NM_052911.2:c.1954-1585_1954-1584dup	NM_052911.2:c.1954-1586_1954-1584dup	NM_052911.2:c.1954-1587_1954-1584dup	NM_052911.2:c.1954-1590_1954-1584dup	NM_052911.2:c.1954-1591_1954-1584dup	NM_052911.2:c.1954-1592_1954-1584dup	NM_052911.2:c.1954-1595_1954-1584dup	NM_052911.2:c.1954-1584_1954-1583insTTTTTTTTTTTTTTTTTTTTTTT	NM_052911.2:c.1954-1584_1954-1583insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ESCO1 transcript	NM_052911.3:c.1954-1584=	NM_052911.3:c.1954-1592_1954-1584del	NM_052911.3:c.1954-1591_1954-1584del	NM_052911.3:c.1954-1589_1954-1584del	NM_052911.3:c.1954-1588_1954-1584del	NM_052911.3:c.1954-1587_1954-1584del	NM_052911.3:c.1954-1586_1954-1584del	NM_052911.3:c.1954-1585_1954-1584del	NM_052911.3:c.1954-1584del	NM_052911.3:c.1954-1584dup	NM_052911.3:c.1954-1585_1954-1584dup	NM_052911.3:c.1954-1586_1954-1584dup	NM_052911.3:c.1954-1587_1954-1584dup	NM_052911.3:c.1954-1590_1954-1584dup	NM_052911.3:c.1954-1591_1954-1584dup	NM_052911.3:c.1954-1592_1954-1584dup	NM_052911.3:c.1954-1595_1954-1584dup	NM_052911.3:c.1954-1584_1954-1583insTTTTTTTTTTTTTTTTTTTTTTT	NM_052911.3:c.1954-1584_1954-1583insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ESCO1 transcript variant X1	XM_011525798.2:c.1954-1584=	XM_011525798.2:c.1954-1592_1954-1584del	XM_011525798.2:c.1954-1591_1954-1584del	XM_011525798.2:c.1954-1589_1954-1584del	XM_011525798.2:c.1954-1588_1954-1584del	XM_011525798.2:c.1954-1587_1954-1584del	XM_011525798.2:c.1954-1586_1954-1584del	XM_011525798.2:c.1954-1585_1954-1584del	XM_011525798.2:c.1954-1584del	XM_011525798.2:c.1954-1584dup	XM_011525798.2:c.1954-1585_1954-1584dup	XM_011525798.2:c.1954-1586_1954-1584dup	XM_011525798.2:c.1954-1587_1954-1584dup	XM_011525798.2:c.1954-1590_1954-1584dup	XM_011525798.2:c.1954-1591_1954-1584dup	XM_011525798.2:c.1954-1592_1954-1584dup	XM_011525798.2:c.1954-1595_1954-1584dup	XM_011525798.2:c.1954-1584_1954-1583insTTTTTTTTTTTTTTTTTTTTTTT	XM_011525798.2:c.1954-1584_1954-1583insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ESCO1 transcript variant X2	XM_011525799.4:c.1954-5408=	XM_011525799.4:c.1954-5416_1954-5408del	XM_011525799.4:c.1954-5415_1954-5408del	XM_011525799.4:c.1954-5413_1954-5408del	XM_011525799.4:c.1954-5412_1954-5408del	XM_011525799.4:c.1954-5411_1954-5408del	XM_011525799.4:c.1954-5410_1954-5408del	XM_011525799.4:c.1954-5409_1954-5408del	XM_011525799.4:c.1954-5408del	XM_011525799.4:c.1954-5408dup	XM_011525799.4:c.1954-5409_1954-5408dup	XM_011525799.4:c.1954-5410_1954-5408dup	XM_011525799.4:c.1954-5411_1954-5408dup	XM_011525799.4:c.1954-5414_1954-5408dup	XM_011525799.4:c.1954-5415_1954-5408dup	XM_011525799.4:c.1954-5416_1954-5408dup	XM_011525799.4:c.1954-5419_1954-5408dup	XM_011525799.4:c.1954-5408_1954-5407insTTTTTTTTTTTTTTTTTTTTTTT	XM_011525799.4:c.1954-5408_1954-5407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ESCO1 transcript variant X3	XM_047437285.1:c.1954-5408=	XM_047437285.1:c.1954-5416_1954-5408del	XM_047437285.1:c.1954-5415_1954-5408del	XM_047437285.1:c.1954-5413_1954-5408del	XM_047437285.1:c.1954-5412_1954-5408del	XM_047437285.1:c.1954-5411_1954-5408del	XM_047437285.1:c.1954-5410_1954-5408del	XM_047437285.1:c.1954-5409_1954-5408del	XM_047437285.1:c.1954-5408del	XM_047437285.1:c.1954-5408dup	XM_047437285.1:c.1954-5409_1954-5408dup	XM_047437285.1:c.1954-5410_1954-5408dup	XM_047437285.1:c.1954-5411_1954-5408dup	XM_047437285.1:c.1954-5414_1954-5408dup	XM_047437285.1:c.1954-5415_1954-5408dup	XM_047437285.1:c.1954-5416_1954-5408dup	XM_047437285.1:c.1954-5419_1954-5408dup	XM_047437285.1:c.1954-5408_1954-5407insTTTTTTTTTTTTTTTTTTTTTTT	XM_047437285.1:c.1954-5408_1954-5407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ESCO1 transcript variant X4	XM_047437286.1:c.1954-893=	XM_047437286.1:c.1954-901_1954-893del	XM_047437286.1:c.1954-900_1954-893del	XM_047437286.1:c.1954-898_1954-893del	XM_047437286.1:c.1954-897_1954-893del	XM_047437286.1:c.1954-896_1954-893del	XM_047437286.1:c.1954-895_1954-893del	XM_047437286.1:c.1954-894_1954-893del	XM_047437286.1:c.1954-893del	XM_047437286.1:c.1954-893dup	XM_047437286.1:c.1954-894_1954-893dup	XM_047437286.1:c.1954-895_1954-893dup	XM_047437286.1:c.1954-896_1954-893dup	XM_047437286.1:c.1954-899_1954-893dup	XM_047437286.1:c.1954-900_1954-893dup	XM_047437286.1:c.1954-901_1954-893dup	XM_047437286.1:c.1954-904_1954-893dup	XM_047437286.1:c.1954-893_1954-892insTTTTTTTTTTTTTTTTTTTTTTT	XM_047437286.1:c.1954-893_1954-892insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

51 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40867003	Dec 03, 2013 (142)
2	HGSV	ss81959262	Dec 14, 2007 (129)
3	HUMANGENOME_JCVI	ss95706508	Feb 04, 2009 (130)
4	PJP	ss294931827	May 09, 2011 (134)
5	BILGI_BIOE	ss666706046	Apr 25, 2013 (138)
6	1000GENOMES	ss1377238481	Aug 21, 2014 (142)
7	EVA_UK10K_ALSPAC	ss1708920589	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1708920789	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710753149	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710753151	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710753161	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710753163	Apr 01, 2015 (144)
13	SWEGEN	ss3016241066	Nov 08, 2017 (151)
14	EVA_DECODE	ss3701307551	Jul 13, 2019 (153)
15	EVA_DECODE	ss3701307552	Jul 13, 2019 (153)
16	EVA_DECODE	ss3701307553	Jul 13, 2019 (153)
17	EVA_DECODE	ss3701307554	Jul 13, 2019 (153)
18	EVA_DECODE	ss3701307555	Jul 13, 2019 (153)
19	PACBIO	ss3788324834	Jul 13, 2019 (153)
20	PACBIO	ss3793263421	Jul 13, 2019 (153)
21	PACBIO	ss3798149694	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3820436875	Jul 13, 2019 (153)
23	EVA	ss3835080847	Apr 27, 2020 (154)
24	GNOMAD	ss4318825951	Apr 26, 2021 (155)
25	GNOMAD	ss4318825952	Apr 26, 2021 (155)
26	GNOMAD	ss4318825953	Apr 26, 2021 (155)
27	GNOMAD	ss4318825954	Apr 26, 2021 (155)
28	GNOMAD	ss4318825955	Apr 26, 2021 (155)
29	GNOMAD	ss4318825956	Apr 26, 2021 (155)
30	GNOMAD	ss4318825957	Apr 26, 2021 (155)
31	GNOMAD	ss4318825958	Apr 26, 2021 (155)
32	GNOMAD	ss4318825959	Apr 26, 2021 (155)
33	GNOMAD	ss4318825960	Apr 26, 2021 (155)
34	GNOMAD	ss4318825961	Apr 26, 2021 (155)
35	GNOMAD	ss4318825962	Apr 26, 2021 (155)
36	GNOMAD	ss4318825963	Apr 26, 2021 (155)
37	GNOMAD	ss4318825964	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5224363145	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5224363146	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5304663373	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5304663374	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5304663375	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5497492949	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5497492950	Oct 16, 2022 (156)
45	TOMMO_GENOMICS	ss5781920447	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5781920448	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5781920449	Oct 16, 2022 (156)
48	EVA	ss5827299536	Oct 16, 2022 (156)
49	EVA	ss5827299537	Oct 16, 2022 (156)
50	EVA	ss5827299538	Oct 16, 2022 (156)
51	EVA	ss5851979666	Oct 16, 2022 (156)
52	1000Genomes	NC_000018.9 - 19121554	Oct 12, 2018 (152)
53	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40766693 (NC_000018.9:19121554:A: 2089/3854) Row 40766695 (NC_000018.9:19121553:AAA: 322/3854)	-	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 40766693 (NC_000018.9:19121554:A: 2089/3854) Row 40766695 (NC_000018.9:19121553:AAA: 322/3854)	-	Oct 12, 2018 (152)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 519205327 (NC_000018.10:21541592::A 41/79358) Row 519205328 (NC_000018.10:21541592::AA 4/79376) Row 519205329 (NC_000018.10:21541592::AAA 5/79316)...	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 82332452 (NC_000018.9:19121553:A: 13739/16678) Row 82332453 (NC_000018.9:19121553:AA: 32/16678)	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 82332452 (NC_000018.9:19121553:A: 13739/16678) Row 82332453 (NC_000018.9:19121553:AA: 32/16678)	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 115757551 (NC_000018.10:21541592:A: 24843/28200) Row 115757552 (NC_000018.10:21541592:AA: 42/28200) Row 115757553 (NC_000018.10:21541592::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA 1/28200)	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 115757551 (NC_000018.10:21541592:A: 24843/28200) Row 115757552 (NC_000018.10:21541592:AA: 42/28200) Row 115757553 (NC_000018.10:21541592::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA 1/28200)	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 115757551 (NC_000018.10:21541592:A: 24843/28200) Row 115757552 (NC_000018.10:21541592:AA: 42/28200) Row 115757553 (NC_000018.10:21541592::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA 1/28200)	-	Oct 16, 2022 (156)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40766693 (NC_000018.9:19121554:A: 1907/3708) Row 40766695 (NC_000018.9:19121553:AAA: 310/3708)	-	Oct 12, 2018 (152)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40766693 (NC_000018.9:19121554:AA: 1907/3708) Row 40766694 (NC_000018.9:19121555:A: 1484/3708) Row 40766695 (NC_000018.9:19121553:AAA: 310/3708)	-	Apr 27, 2020 (154)
76	UK 10K study - Twins Submission ignored due to conflicting rows: Row 40766693 (NC_000018.9:19121554:A: 1907/3708) Row 40766695 (NC_000018.9:19121553:AAA: 310/3708)	-	Oct 12, 2018 (152)
77	ALFA	NC_000018.10 - 21541593	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).

Associated ID	History Updated (Build)
rs34519919	May 11, 2012 (137)
rs397858127	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4318825964	NC_000018.10:21541592:AAAAAAAAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4318825963	NC_000018.10:21541592:AAAAAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4318825962	NC_000018.10:21541592:AAAAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3701307555, ss4318825961	NC_000018.10:21541592:AAAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1708920589, ss1708920789, ss5827299538	NC_000018.9:19121553:AAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4318825960, ss5304663375	NC_000018.10:21541592:AAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3701307554	NC_000018.10:21541593:AAA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3016241066, ss3788324834, ss3835080847, ss5224363146, ss5827299536	NC_000018.9:19121553:AA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710753149, ss1710753161	NC_000018.9:19121554:AA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5304663373, ss5497492950, ss5781920448, ss5851979666	NC_000018.10:21541592:AA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3701307553	NC_000018.10:21541594:AA:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss81959262, ss294931827	NC_000018.8:17375569:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
73600699, ss666706046, ss1377238481, ss3793263421, ss3798149694, ss5224363145, ss5827299537	NC_000018.9:19121553:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
	NC_000018.9:19121554:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1710753151, ss1710753163	NC_000018.9:19121555:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3820436875, ss5497492949, ss5781920447	NC_000018.10:21541592:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3701307552	NC_000018.10:21541595:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss40867003	NT_010966.14:610655:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95706508	NT_010966.14:610673:A:	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4318825951, ss5304663374	NC_000018.10:21541592::A	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
214402630	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4318825952	NC_000018.10:21541592::AA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825953	NC_000018.10:21541592::AAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701307551	NC_000018.10:21541596::AAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825954	NC_000018.10:21541592::AAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825955	NC_000018.10:21541592::AAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825956	NC_000018.10:21541592::AAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825957	NC_000018.10:21541592::AAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825958	NC_000018.10:21541592::AAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318825959	NC_000018.10:21541592::AAAAAAAAAAA… NC_000018.10:21541592::AAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5781920449	NC_000018.10:21541592::AAAAAAAAAAA… NC_000018.10:21541592::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:21541592:AAAAAAAAAAAA… NC_000018.10:21541592:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs58040604

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

rs58040604