Name: rs35404098
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.

rs35404098

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:6442868-6442888 (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)₁₂ / del(A)₇ / del(A)₆ / del…
del(A)₁₂ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.000004 (1/264690, TOPMED)
del(A)₁₂=0.0000 (0/8402, ALFA)
del(A)₇=0.0000 (0/8402, ALFA) (+ 10 more)
del(A)₆=0.0000 (0/8402, ALFA)
del(A)₅=0.0000 (0/8402, ALFA)
del(A)₄=0.0000 (0/8402, ALFA)
delAAA=0.0000 (0/8402, ALFA)
delAA=0.0000 (0/8402, ALFA)
delA=0.0000 (0/8402, ALFA)
dupA=0.0000 (0/8402, ALFA)
dupAA=0.0000 (0/8402, ALFA)
dupAAA=0.0000 (0/8402, ALFA)
delA=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ESPN : 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	HWEP
Total	Global	8402	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	5778	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1510	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	60	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1450	AAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	98	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	76	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	96	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	502	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	72	AAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	346	AAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	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
TopMed	Global	Study-wide	264690	(A)₂₁=0.999996	del(A)₇=0.000004
Allele Frequency Aggregator	Total	Global	8402	(A)₂₁=1.0000	del(A)₁₂=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	5778	(A)₂₁=1.0000	del(A)₁₂=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	1510	(A)₂₁=1.0000	del(A)₁₂=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	502	(A)₂₁=1.000	del(A)₁₂=0.000, del(A)₇=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, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	346	(A)₂₁=1.000	del(A)₁₂=0.000, del(A)₇=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, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	98	(A)₂₁=1.00	del(A)₁₂=0.00, del(A)₇=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, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	96	(A)₂₁=1.00	del(A)₁₂=0.00, del(A)₇=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, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	72	(A)₂₁=1.00	del(A)₁₂=0.00, del(A)₇=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, dupAA=0.00, dupAAA=0.00
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₁=0.62	delA=0.38

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.6442877_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442882_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442883_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442884_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442885_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442886_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442887_6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442888del
GRCh38.p14 chr 1	NC_000001.11:g.6442888dup
GRCh38.p14 chr 1	NC_000001.11:g.6442887_6442888dup
GRCh38.p14 chr 1	NC_000001.11:g.6442886_6442888dup
GRCh38.p14 chr 1	NC_000001.11:g.6442885_6442888dup
GRCh38.p14 chr 1	NC_000001.11:g.6442883_6442888dup
GRCh37.p13 chr 1	NC_000001.10:g.6502937_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502942_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502943_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502944_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502945_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502946_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502947_6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502948del
GRCh37.p13 chr 1	NC_000001.10:g.6502948dup
GRCh37.p13 chr 1	NC_000001.10:g.6502947_6502948dup
GRCh37.p13 chr 1	NC_000001.10:g.6502946_6502948dup
GRCh37.p13 chr 1	NC_000001.10:g.6502945_6502948dup
GRCh37.p13 chr 1	NC_000001.10:g.6502943_6502948dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23090_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23095_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23096_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23097_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23098_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23099_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23100_23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23101del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23101dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23100_23101dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23099_23101dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23098_23101dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23096_23101dup

Gene: ESPN, espin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ESPN transcript variant 2	NM_001367473.1:c.991-1604… NM_001367473.1:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant 3	NM_001367474.1:c.991-1604… NM_001367474.1:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant 1	NM_031475.3:c.991-1604_99… NM_031475.3:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant X1	XM_011542231.1:c.991-1604… XM_011542231.1:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant X2	XM_011542232.1:c.991-1604… XM_011542232.1:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant X3	XM_011542233.3:c.373-1604… XM_011542233.3:c.373-1604_373-1593del	N/A	Intron Variant
ESPN transcript variant X9	XM_011542237.1:c.991-1604… XM_011542237.1:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant X10	XM_011542238.4:c.991-1604… XM_011542238.4:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant X5	XM_017002433.2:c.991-1604… XM_017002433.2:c.991-1604_991-1593del	N/A	Intron Variant
ESPN transcript variant X8	XM_011542236.3:c.	N/A	Genic Upstream Transcript Variant
ESPN transcript variant X4	XM_047431542.1:c.	N/A	Genic Upstream Transcript Variant
ESPN transcript variant X6	XM_047431549.1:c.	N/A	Genic Upstream Transcript Variant
ESPN transcript variant X7	XM_047431551.1:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₁=	del(A)₁₂	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₆
GRCh38.p14 chr 1	NC_000001.11:g.6442868_6442888=	NC_000001.11:g.6442877_6442888del	NC_000001.11:g.6442882_6442888del	NC_000001.11:g.6442883_6442888del	NC_000001.11:g.6442884_6442888del	NC_000001.11:g.6442885_6442888del	NC_000001.11:g.6442886_6442888del	NC_000001.11:g.6442887_6442888del	NC_000001.11:g.6442888del	NC_000001.11:g.6442888dup	NC_000001.11:g.6442887_6442888dup	NC_000001.11:g.6442886_6442888dup	NC_000001.11:g.6442885_6442888dup	NC_000001.11:g.6442883_6442888dup
GRCh37.p13 chr 1	NC_000001.10:g.6502928_6502948=	NC_000001.10:g.6502937_6502948del	NC_000001.10:g.6502942_6502948del	NC_000001.10:g.6502943_6502948del	NC_000001.10:g.6502944_6502948del	NC_000001.10:g.6502945_6502948del	NC_000001.10:g.6502946_6502948del	NC_000001.10:g.6502947_6502948del	NC_000001.10:g.6502948del	NC_000001.10:g.6502948dup	NC_000001.10:g.6502947_6502948dup	NC_000001.10:g.6502946_6502948dup	NC_000001.10:g.6502945_6502948dup	NC_000001.10:g.6502943_6502948dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.23081_23101=	NG_015866.1:g.23090_23101del	NG_015866.1:g.23095_23101del	NG_015866.1:g.23096_23101del	NG_015866.1:g.23097_23101del	NG_015866.1:g.23098_23101del	NG_015866.1:g.23099_23101del	NG_015866.1:g.23100_23101del	NG_015866.1:g.23101del	NG_015866.1:g.23101dup	NG_015866.1:g.23100_23101dup	NG_015866.1:g.23099_23101dup	NG_015866.1:g.23098_23101dup	NG_015866.1:g.23096_23101dup
ESPN transcript variant 2	NM_001367473.1:c.991-1613=	NM_001367473.1:c.991-1604_991-1593del	NM_001367473.1:c.991-1599_991-1593del	NM_001367473.1:c.991-1598_991-1593del	NM_001367473.1:c.991-1597_991-1593del	NM_001367473.1:c.991-1596_991-1593del	NM_001367473.1:c.991-1595_991-1593del	NM_001367473.1:c.991-1594_991-1593del	NM_001367473.1:c.991-1593del	NM_001367473.1:c.991-1593dup	NM_001367473.1:c.991-1594_991-1593dup	NM_001367473.1:c.991-1595_991-1593dup	NM_001367473.1:c.991-1596_991-1593dup	NM_001367473.1:c.991-1598_991-1593dup
ESPN transcript variant 3	NM_001367474.1:c.991-1613=	NM_001367474.1:c.991-1604_991-1593del	NM_001367474.1:c.991-1599_991-1593del	NM_001367474.1:c.991-1598_991-1593del	NM_001367474.1:c.991-1597_991-1593del	NM_001367474.1:c.991-1596_991-1593del	NM_001367474.1:c.991-1595_991-1593del	NM_001367474.1:c.991-1594_991-1593del	NM_001367474.1:c.991-1593del	NM_001367474.1:c.991-1593dup	NM_001367474.1:c.991-1594_991-1593dup	NM_001367474.1:c.991-1595_991-1593dup	NM_001367474.1:c.991-1596_991-1593dup	NM_001367474.1:c.991-1598_991-1593dup
ESPN transcript	NM_031475.2:c.991-1613=	NM_031475.2:c.991-1604_991-1593del	NM_031475.2:c.991-1599_991-1593del	NM_031475.2:c.991-1598_991-1593del	NM_031475.2:c.991-1597_991-1593del	NM_031475.2:c.991-1596_991-1593del	NM_031475.2:c.991-1595_991-1593del	NM_031475.2:c.991-1594_991-1593del	NM_031475.2:c.991-1593del	NM_031475.2:c.991-1593dup	NM_031475.2:c.991-1594_991-1593dup	NM_031475.2:c.991-1595_991-1593dup	NM_031475.2:c.991-1596_991-1593dup	NM_031475.2:c.991-1598_991-1593dup
ESPN transcript variant 1	NM_031475.3:c.991-1613=	NM_031475.3:c.991-1604_991-1593del	NM_031475.3:c.991-1599_991-1593del	NM_031475.3:c.991-1598_991-1593del	NM_031475.3:c.991-1597_991-1593del	NM_031475.3:c.991-1596_991-1593del	NM_031475.3:c.991-1595_991-1593del	NM_031475.3:c.991-1594_991-1593del	NM_031475.3:c.991-1593del	NM_031475.3:c.991-1593dup	NM_031475.3:c.991-1594_991-1593dup	NM_031475.3:c.991-1595_991-1593dup	NM_031475.3:c.991-1596_991-1593dup	NM_031475.3:c.991-1598_991-1593dup
ESPN transcript variant X1	XM_005263501.1:c.991-1613=	XM_005263501.1:c.991-1604_991-1593del	XM_005263501.1:c.991-1599_991-1593del	XM_005263501.1:c.991-1598_991-1593del	XM_005263501.1:c.991-1597_991-1593del	XM_005263501.1:c.991-1596_991-1593del	XM_005263501.1:c.991-1595_991-1593del	XM_005263501.1:c.991-1594_991-1593del	XM_005263501.1:c.991-1593del	XM_005263501.1:c.991-1593dup	XM_005263501.1:c.991-1594_991-1593dup	XM_005263501.1:c.991-1595_991-1593dup	XM_005263501.1:c.991-1596_991-1593dup	XM_005263501.1:c.991-1598_991-1593dup
ESPN transcript variant X2	XM_005263502.1:c.991-1613=	XM_005263502.1:c.991-1604_991-1593del	XM_005263502.1:c.991-1599_991-1593del	XM_005263502.1:c.991-1598_991-1593del	XM_005263502.1:c.991-1597_991-1593del	XM_005263502.1:c.991-1596_991-1593del	XM_005263502.1:c.991-1595_991-1593del	XM_005263502.1:c.991-1594_991-1593del	XM_005263502.1:c.991-1593del	XM_005263502.1:c.991-1593dup	XM_005263502.1:c.991-1594_991-1593dup	XM_005263502.1:c.991-1595_991-1593dup	XM_005263502.1:c.991-1596_991-1593dup	XM_005263502.1:c.991-1598_991-1593dup
ESPN transcript variant X1	XM_011542231.1:c.991-1613=	XM_011542231.1:c.991-1604_991-1593del	XM_011542231.1:c.991-1599_991-1593del	XM_011542231.1:c.991-1598_991-1593del	XM_011542231.1:c.991-1597_991-1593del	XM_011542231.1:c.991-1596_991-1593del	XM_011542231.1:c.991-1595_991-1593del	XM_011542231.1:c.991-1594_991-1593del	XM_011542231.1:c.991-1593del	XM_011542231.1:c.991-1593dup	XM_011542231.1:c.991-1594_991-1593dup	XM_011542231.1:c.991-1595_991-1593dup	XM_011542231.1:c.991-1596_991-1593dup	XM_011542231.1:c.991-1598_991-1593dup
ESPN transcript variant X2	XM_011542232.1:c.991-1613=	XM_011542232.1:c.991-1604_991-1593del	XM_011542232.1:c.991-1599_991-1593del	XM_011542232.1:c.991-1598_991-1593del	XM_011542232.1:c.991-1597_991-1593del	XM_011542232.1:c.991-1596_991-1593del	XM_011542232.1:c.991-1595_991-1593del	XM_011542232.1:c.991-1594_991-1593del	XM_011542232.1:c.991-1593del	XM_011542232.1:c.991-1593dup	XM_011542232.1:c.991-1594_991-1593dup	XM_011542232.1:c.991-1595_991-1593dup	XM_011542232.1:c.991-1596_991-1593dup	XM_011542232.1:c.991-1598_991-1593dup
ESPN transcript variant X3	XM_011542233.3:c.373-1613=	XM_011542233.3:c.373-1604_373-1593del	XM_011542233.3:c.373-1599_373-1593del	XM_011542233.3:c.373-1598_373-1593del	XM_011542233.3:c.373-1597_373-1593del	XM_011542233.3:c.373-1596_373-1593del	XM_011542233.3:c.373-1595_373-1593del	XM_011542233.3:c.373-1594_373-1593del	XM_011542233.3:c.373-1593del	XM_011542233.3:c.373-1593dup	XM_011542233.3:c.373-1594_373-1593dup	XM_011542233.3:c.373-1595_373-1593dup	XM_011542233.3:c.373-1596_373-1593dup	XM_011542233.3:c.373-1598_373-1593dup
ESPN transcript variant X9	XM_011542237.1:c.991-1613=	XM_011542237.1:c.991-1604_991-1593del	XM_011542237.1:c.991-1599_991-1593del	XM_011542237.1:c.991-1598_991-1593del	XM_011542237.1:c.991-1597_991-1593del	XM_011542237.1:c.991-1596_991-1593del	XM_011542237.1:c.991-1595_991-1593del	XM_011542237.1:c.991-1594_991-1593del	XM_011542237.1:c.991-1593del	XM_011542237.1:c.991-1593dup	XM_011542237.1:c.991-1594_991-1593dup	XM_011542237.1:c.991-1595_991-1593dup	XM_011542237.1:c.991-1596_991-1593dup	XM_011542237.1:c.991-1598_991-1593dup
ESPN transcript variant X10	XM_011542238.4:c.991-1613=	XM_011542238.4:c.991-1604_991-1593del	XM_011542238.4:c.991-1599_991-1593del	XM_011542238.4:c.991-1598_991-1593del	XM_011542238.4:c.991-1597_991-1593del	XM_011542238.4:c.991-1596_991-1593del	XM_011542238.4:c.991-1595_991-1593del	XM_011542238.4:c.991-1594_991-1593del	XM_011542238.4:c.991-1593del	XM_011542238.4:c.991-1593dup	XM_011542238.4:c.991-1594_991-1593dup	XM_011542238.4:c.991-1595_991-1593dup	XM_011542238.4:c.991-1596_991-1593dup	XM_011542238.4:c.991-1598_991-1593dup
ESPN transcript variant X5	XM_017002433.2:c.991-1613=	XM_017002433.2:c.991-1604_991-1593del	XM_017002433.2:c.991-1599_991-1593del	XM_017002433.2:c.991-1598_991-1593del	XM_017002433.2:c.991-1597_991-1593del	XM_017002433.2:c.991-1596_991-1593del	XM_017002433.2:c.991-1595_991-1593del	XM_017002433.2:c.991-1594_991-1593del	XM_017002433.2:c.991-1593del	XM_017002433.2:c.991-1593dup	XM_017002433.2:c.991-1594_991-1593dup	XM_017002433.2:c.991-1595_991-1593dup	XM_017002433.2:c.991-1596_991-1593dup	XM_017002433.2:c.991-1598_991-1593dup

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#.

26 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41065080	Mar 15, 2016 (147)
2	HGSV	ss81767890	Dec 14, 2007 (137)
3	EVA_GENOME_DK	ss1573877857	Apr 01, 2015 (144)
4	GNOMAD	ss3987716509	Apr 25, 2021 (155)
5	GNOMAD	ss3987716510	Apr 25, 2021 (155)
6	GNOMAD	ss3987716511	Apr 25, 2021 (155)
7	GNOMAD	ss3987716512	Apr 25, 2021 (155)
8	GNOMAD	ss3987716513	Apr 25, 2021 (155)
9	GNOMAD	ss3987716514	Apr 25, 2021 (155)
10	GNOMAD	ss3987716515	Apr 25, 2021 (155)
11	GNOMAD	ss3987716516	Apr 25, 2021 (155)
12	GNOMAD	ss3987716517	Apr 25, 2021 (155)
13	GNOMAD	ss3987716518	Apr 25, 2021 (155)
14	TOPMED	ss4438017568	Apr 25, 2021 (155)
15	TOMMO_GENOMICS	ss5142303000	Apr 25, 2021 (155)
16	TOMMO_GENOMICS	ss5142303001	Apr 25, 2021 (155)
17	1000G_HIGH_COVERAGE	ss5241047537	Oct 17, 2022 (156)
18	1000G_HIGH_COVERAGE	ss5241047538	Oct 17, 2022 (156)
19	1000G_HIGH_COVERAGE	ss5241047539	Oct 17, 2022 (156)
20	1000G_HIGH_COVERAGE	ss5241047540	Oct 17, 2022 (156)
21	HUGCELL_USP	ss5442264415	Oct 17, 2022 (156)
22	HUGCELL_USP	ss5442264417	Oct 17, 2022 (156)
23	HUGCELL_USP	ss5442264418	Oct 17, 2022 (156)
24	TOMMO_GENOMICS	ss5666549219	Oct 17, 2022 (156)
25	TOMMO_GENOMICS	ss5666549220	Oct 17, 2022 (156)
26	TOMMO_GENOMICS	ss5666549222	Oct 17, 2022 (156)
27	The Danish reference pan genome	NC_000001.10 - 6502928	Apr 25, 2020 (154)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1464168 (NC_000001.11:6442867::A 1069/46840) Row 1464169 (NC_000001.11:6442867::AA 38/47240) Row 1464170 (NC_000001.11:6442867::AAA 4/47272)...	-	Apr 25, 2021 (155)
38	8.3KJPN Submission ignored due to conflicting rows: Row 272307 (NC_000001.10:6502927:A: 284/16694) Row 272308 (NC_000001.10:6502927::A 15/16694)	-	Apr 25, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 272307 (NC_000001.10:6502927:A: 284/16694) Row 272308 (NC_000001.10:6502927::A 15/16694)	-	Apr 25, 2021 (155)
40	14KJPN Submission ignored due to conflicting rows: Row 386323 (NC_000001.11:6442867:AAAA: 2/27598) Row 386324 (NC_000001.11:6442867:A: 458/27598) Row 386326 (NC_000001.11:6442867::A 22/27598)	-	Oct 17, 2022 (156)
41	14KJPN Submission ignored due to conflicting rows: Row 386323 (NC_000001.11:6442867:AAAA: 2/27598) Row 386324 (NC_000001.11:6442867:A: 458/27598) Row 386326 (NC_000001.11:6442867::A 22/27598)	-	Oct 17, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 386323 (NC_000001.11:6442867:AAAA: 2/27598) Row 386324 (NC_000001.11:6442867:A: 458/27598) Row 386326 (NC_000001.11:6442867::A 22/27598)	-	Oct 17, 2022 (156)
43	TopMed	NC_000001.11 - 6442868	Apr 25, 2021 (155)
44	ALFA	NC_000001.11 - 6442868	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)
rs869211179	Jul 19, 2016 (147)
rs58151839	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
1623903, ss4438017568	NC_000001.11:6442867:AAAAAAA:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3987716518	NC_000001.11:6442867:AAAAAA:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3987716517, ss5666549219	NC_000001.11:6442867:AAAA:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3987716516	NC_000001.11:6442867:AAA:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss81767890	NC_000001.8:6437212:AA:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3987716515, ss5241047539, ss5442264418	NC_000001.11:6442867:AA:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
122120, ss1573877857, ss5142303000	NC_000001.10:6502927:A:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3987716514, ss5241047537, ss5442264415, ss5666549220	NC_000001.11:6442867:A:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss41065080	NT_021937.19:2507659:A:	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5142303001	NC_000001.10:6502927::A	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987716509, ss5241047540, ss5442264417, ss5666549222	NC_000001.11:6442867::A	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987716510, ss5241047538	NC_000001.11:6442867::AA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987716511	NC_000001.11:6442867::AAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
3022275791	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987716512	NC_000001.11:6442867::AAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987716513	NC_000001.11:6442867::AAAAAA	NC_000001.11:6442867:AAAAAAAAAAAAA… NC_000001.11:6442867:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

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

No publications for rs35404098

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35404098