Name: rs760363517
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.

rs760363517

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:6431629-6431653 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₉ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₂₄ / dup(A)₂₅
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.0000 (0/6338, ALFA)
del(A)₁₃=0.0000 (0/6338, ALFA)
del(A)₁₂=0.0000 (0/6338, ALFA) (+ 16 more)
del(A)₁₁=0.0000 (0/6338, ALFA)
del(A)₁₀=0.0000 (0/6338, ALFA)
del(A)₉=0.0000 (0/6338, ALFA)
del(A)₈=0.0000 (0/6338, ALFA)
del(A)₇=0.0000 (0/6338, ALFA)
del(A)₆=0.0000 (0/6338, ALFA)
del(A)₅=0.0000 (0/6338, ALFA)
del(A)₄=0.0000 (0/6338, ALFA)
delAAA=0.0000 (0/6338, ALFA)
delAA=0.0000 (0/6338, ALFA)
delA=0.0000 (0/6338, ALFA)
dupA=0.0000 (0/6338, ALFA)
dupAA=0.0000 (0/6338, ALFA)
dupAAA=0.0000 (0/6338, ALFA)
dup(A)₄=0.0000 (0/6338, ALFA)
dup(A)₅=0.0000 (0/6338, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ESPN : Intron Variant
MIR4252 : 2KB Upstream 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	6338	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	4876	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	634	AAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	22	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	612	AAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	26	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	68	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	434	AAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	62	AAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	238	AAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator	Total	Global	6338	(A)₂₅=1.0000	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=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, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	4876	(A)₂₅=1.0000	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=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, dup(A)₄=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	634	(A)₂₅=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	434	(A)₂₅=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	238	(A)₂₅=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=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, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	68	(A)₂₅=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=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, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	62	(A)₂₅=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=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, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Asian	Sub	26	(A)₂₅=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=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, dup(A)₄=0.00, dup(A)₅=0.00

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.6431640_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431641_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431642_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431643_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431644_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431645_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431646_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431647_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431648_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431649_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431650_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431651_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431652_6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431653del
GRCh38.p14 chr 1	NC_000001.11:g.6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431652_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431651_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431650_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431649_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431648_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431645_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431643_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431642_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431630_6431653dup
GRCh38.p14 chr 1	NC_000001.11:g.6431629_6431653dup
GRCh37.p13 chr 1	NC_000001.10:g.6491700_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491701_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491702_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491703_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491704_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491705_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491706_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491707_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491708_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491709_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491710_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491711_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491712_6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491713del
GRCh37.p13 chr 1	NC_000001.10:g.6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491712_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491711_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491710_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491709_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491708_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491705_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491703_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491702_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491690_6491713dup
GRCh37.p13 chr 1	NC_000001.10:g.6491689_6491713dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11853_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11854_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11855_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11856_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11857_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11858_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11859_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11860_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11861_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11862_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11863_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11864_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11865_11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11866del
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11865_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11864_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11863_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11862_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11861_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11858_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11856_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11855_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11843_11866dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11842_11866dup

Gene: ESPN, espin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ESPN transcript variant 2	NM_001367473.1:c.488+3221… NM_001367473.1:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant 3	NM_001367474.1:c.488+3221… NM_001367474.1:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant 1	NM_031475.3:c.488+3221_48… NM_031475.3:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant X1	XM_011542231.1:c.488+3221… XM_011542231.1:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant X2	XM_011542232.1:c.488+3221… XM_011542232.1:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant X9	XM_011542237.1:c.488+3221… XM_011542237.1:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant X10	XM_011542238.4:c.488+3221… XM_011542238.4:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant X5	XM_017002433.2:c.488+3221… XM_017002433.2:c.488+3221_488+3234del	N/A	Intron Variant
ESPN transcript variant X3	XM_011542233.3:c.	N/A	Genic Upstream Transcript 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

Gene: MIR4252, microRNA 4252 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MIR4252 transcript	NR_036218.1:n.	N/A	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)₂₅=	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₉	dup(A)₁₁	dup(A)₁₂	dup(A)₂₄	dup(A)₂₅
GRCh38.p14 chr 1	NC_000001.11:g.6431629_6431653=	NC_000001.11:g.6431640_6431653del	NC_000001.11:g.6431641_6431653del	NC_000001.11:g.6431642_6431653del	NC_000001.11:g.6431643_6431653del	NC_000001.11:g.6431644_6431653del	NC_000001.11:g.6431645_6431653del	NC_000001.11:g.6431646_6431653del	NC_000001.11:g.6431647_6431653del	NC_000001.11:g.6431648_6431653del	NC_000001.11:g.6431649_6431653del	NC_000001.11:g.6431650_6431653del	NC_000001.11:g.6431651_6431653del	NC_000001.11:g.6431652_6431653del	NC_000001.11:g.6431653del	NC_000001.11:g.6431653dup	NC_000001.11:g.6431652_6431653dup	NC_000001.11:g.6431651_6431653dup	NC_000001.11:g.6431650_6431653dup	NC_000001.11:g.6431649_6431653dup	NC_000001.11:g.6431648_6431653dup	NC_000001.11:g.6431645_6431653dup	NC_000001.11:g.6431643_6431653dup	NC_000001.11:g.6431642_6431653dup	NC_000001.11:g.6431630_6431653dup	NC_000001.11:g.6431629_6431653dup
GRCh37.p13 chr 1	NC_000001.10:g.6491689_6491713=	NC_000001.10:g.6491700_6491713del	NC_000001.10:g.6491701_6491713del	NC_000001.10:g.6491702_6491713del	NC_000001.10:g.6491703_6491713del	NC_000001.10:g.6491704_6491713del	NC_000001.10:g.6491705_6491713del	NC_000001.10:g.6491706_6491713del	NC_000001.10:g.6491707_6491713del	NC_000001.10:g.6491708_6491713del	NC_000001.10:g.6491709_6491713del	NC_000001.10:g.6491710_6491713del	NC_000001.10:g.6491711_6491713del	NC_000001.10:g.6491712_6491713del	NC_000001.10:g.6491713del	NC_000001.10:g.6491713dup	NC_000001.10:g.6491712_6491713dup	NC_000001.10:g.6491711_6491713dup	NC_000001.10:g.6491710_6491713dup	NC_000001.10:g.6491709_6491713dup	NC_000001.10:g.6491708_6491713dup	NC_000001.10:g.6491705_6491713dup	NC_000001.10:g.6491703_6491713dup	NC_000001.10:g.6491702_6491713dup	NC_000001.10:g.6491690_6491713dup	NC_000001.10:g.6491689_6491713dup
ESPN RefSeqGene (LRG_1281)	NG_015866.1:g.11842_11866=	NG_015866.1:g.11853_11866del	NG_015866.1:g.11854_11866del	NG_015866.1:g.11855_11866del	NG_015866.1:g.11856_11866del	NG_015866.1:g.11857_11866del	NG_015866.1:g.11858_11866del	NG_015866.1:g.11859_11866del	NG_015866.1:g.11860_11866del	NG_015866.1:g.11861_11866del	NG_015866.1:g.11862_11866del	NG_015866.1:g.11863_11866del	NG_015866.1:g.11864_11866del	NG_015866.1:g.11865_11866del	NG_015866.1:g.11866del	NG_015866.1:g.11866dup	NG_015866.1:g.11865_11866dup	NG_015866.1:g.11864_11866dup	NG_015866.1:g.11863_11866dup	NG_015866.1:g.11862_11866dup	NG_015866.1:g.11861_11866dup	NG_015866.1:g.11858_11866dup	NG_015866.1:g.11856_11866dup	NG_015866.1:g.11855_11866dup	NG_015866.1:g.11843_11866dup	NG_015866.1:g.11842_11866dup
ESPN transcript variant 2	NM_001367473.1:c.488+3210=	NM_001367473.1:c.488+3221_488+3234del	NM_001367473.1:c.488+3222_488+3234del	NM_001367473.1:c.488+3223_488+3234del	NM_001367473.1:c.488+3224_488+3234del	NM_001367473.1:c.488+3225_488+3234del	NM_001367473.1:c.488+3226_488+3234del	NM_001367473.1:c.488+3227_488+3234del	NM_001367473.1:c.488+3228_488+3234del	NM_001367473.1:c.488+3229_488+3234del	NM_001367473.1:c.488+3230_488+3234del	NM_001367473.1:c.488+3231_488+3234del	NM_001367473.1:c.488+3232_488+3234del	NM_001367473.1:c.488+3233_488+3234del	NM_001367473.1:c.488+3234del	NM_001367473.1:c.488+3234dup	NM_001367473.1:c.488+3233_488+3234dup	NM_001367473.1:c.488+3232_488+3234dup	NM_001367473.1:c.488+3231_488+3234dup	NM_001367473.1:c.488+3230_488+3234dup	NM_001367473.1:c.488+3229_488+3234dup	NM_001367473.1:c.488+3226_488+3234dup	NM_001367473.1:c.488+3224_488+3234dup	NM_001367473.1:c.488+3223_488+3234dup	NM_001367473.1:c.488+3211_488+3234dup	NM_001367473.1:c.488+3210_488+3234dup
ESPN transcript variant 3	NM_001367474.1:c.488+3210=	NM_001367474.1:c.488+3221_488+3234del	NM_001367474.1:c.488+3222_488+3234del	NM_001367474.1:c.488+3223_488+3234del	NM_001367474.1:c.488+3224_488+3234del	NM_001367474.1:c.488+3225_488+3234del	NM_001367474.1:c.488+3226_488+3234del	NM_001367474.1:c.488+3227_488+3234del	NM_001367474.1:c.488+3228_488+3234del	NM_001367474.1:c.488+3229_488+3234del	NM_001367474.1:c.488+3230_488+3234del	NM_001367474.1:c.488+3231_488+3234del	NM_001367474.1:c.488+3232_488+3234del	NM_001367474.1:c.488+3233_488+3234del	NM_001367474.1:c.488+3234del	NM_001367474.1:c.488+3234dup	NM_001367474.1:c.488+3233_488+3234dup	NM_001367474.1:c.488+3232_488+3234dup	NM_001367474.1:c.488+3231_488+3234dup	NM_001367474.1:c.488+3230_488+3234dup	NM_001367474.1:c.488+3229_488+3234dup	NM_001367474.1:c.488+3226_488+3234dup	NM_001367474.1:c.488+3224_488+3234dup	NM_001367474.1:c.488+3223_488+3234dup	NM_001367474.1:c.488+3211_488+3234dup	NM_001367474.1:c.488+3210_488+3234dup
ESPN transcript	NM_031475.2:c.488+3210=	NM_031475.2:c.488+3221_488+3234del	NM_031475.2:c.488+3222_488+3234del	NM_031475.2:c.488+3223_488+3234del	NM_031475.2:c.488+3224_488+3234del	NM_031475.2:c.488+3225_488+3234del	NM_031475.2:c.488+3226_488+3234del	NM_031475.2:c.488+3227_488+3234del	NM_031475.2:c.488+3228_488+3234del	NM_031475.2:c.488+3229_488+3234del	NM_031475.2:c.488+3230_488+3234del	NM_031475.2:c.488+3231_488+3234del	NM_031475.2:c.488+3232_488+3234del	NM_031475.2:c.488+3233_488+3234del	NM_031475.2:c.488+3234del	NM_031475.2:c.488+3234dup	NM_031475.2:c.488+3233_488+3234dup	NM_031475.2:c.488+3232_488+3234dup	NM_031475.2:c.488+3231_488+3234dup	NM_031475.2:c.488+3230_488+3234dup	NM_031475.2:c.488+3229_488+3234dup	NM_031475.2:c.488+3226_488+3234dup	NM_031475.2:c.488+3224_488+3234dup	NM_031475.2:c.488+3223_488+3234dup	NM_031475.2:c.488+3211_488+3234dup	NM_031475.2:c.488+3210_488+3234dup
ESPN transcript variant 1	NM_031475.3:c.488+3210=	NM_031475.3:c.488+3221_488+3234del	NM_031475.3:c.488+3222_488+3234del	NM_031475.3:c.488+3223_488+3234del	NM_031475.3:c.488+3224_488+3234del	NM_031475.3:c.488+3225_488+3234del	NM_031475.3:c.488+3226_488+3234del	NM_031475.3:c.488+3227_488+3234del	NM_031475.3:c.488+3228_488+3234del	NM_031475.3:c.488+3229_488+3234del	NM_031475.3:c.488+3230_488+3234del	NM_031475.3:c.488+3231_488+3234del	NM_031475.3:c.488+3232_488+3234del	NM_031475.3:c.488+3233_488+3234del	NM_031475.3:c.488+3234del	NM_031475.3:c.488+3234dup	NM_031475.3:c.488+3233_488+3234dup	NM_031475.3:c.488+3232_488+3234dup	NM_031475.3:c.488+3231_488+3234dup	NM_031475.3:c.488+3230_488+3234dup	NM_031475.3:c.488+3229_488+3234dup	NM_031475.3:c.488+3226_488+3234dup	NM_031475.3:c.488+3224_488+3234dup	NM_031475.3:c.488+3223_488+3234dup	NM_031475.3:c.488+3211_488+3234dup	NM_031475.3:c.488+3210_488+3234dup
ESPN transcript variant X1	XM_005263501.1:c.488+3210=	XM_005263501.1:c.488+3221_488+3234del	XM_005263501.1:c.488+3222_488+3234del	XM_005263501.1:c.488+3223_488+3234del	XM_005263501.1:c.488+3224_488+3234del	XM_005263501.1:c.488+3225_488+3234del	XM_005263501.1:c.488+3226_488+3234del	XM_005263501.1:c.488+3227_488+3234del	XM_005263501.1:c.488+3228_488+3234del	XM_005263501.1:c.488+3229_488+3234del	XM_005263501.1:c.488+3230_488+3234del	XM_005263501.1:c.488+3231_488+3234del	XM_005263501.1:c.488+3232_488+3234del	XM_005263501.1:c.488+3233_488+3234del	XM_005263501.1:c.488+3234del	XM_005263501.1:c.488+3234dup	XM_005263501.1:c.488+3233_488+3234dup	XM_005263501.1:c.488+3232_488+3234dup	XM_005263501.1:c.488+3231_488+3234dup	XM_005263501.1:c.488+3230_488+3234dup	XM_005263501.1:c.488+3229_488+3234dup	XM_005263501.1:c.488+3226_488+3234dup	XM_005263501.1:c.488+3224_488+3234dup	XM_005263501.1:c.488+3223_488+3234dup	XM_005263501.1:c.488+3211_488+3234dup	XM_005263501.1:c.488+3210_488+3234dup
ESPN transcript variant X2	XM_005263502.1:c.488+3210=	XM_005263502.1:c.488+3221_488+3234del	XM_005263502.1:c.488+3222_488+3234del	XM_005263502.1:c.488+3223_488+3234del	XM_005263502.1:c.488+3224_488+3234del	XM_005263502.1:c.488+3225_488+3234del	XM_005263502.1:c.488+3226_488+3234del	XM_005263502.1:c.488+3227_488+3234del	XM_005263502.1:c.488+3228_488+3234del	XM_005263502.1:c.488+3229_488+3234del	XM_005263502.1:c.488+3230_488+3234del	XM_005263502.1:c.488+3231_488+3234del	XM_005263502.1:c.488+3232_488+3234del	XM_005263502.1:c.488+3233_488+3234del	XM_005263502.1:c.488+3234del	XM_005263502.1:c.488+3234dup	XM_005263502.1:c.488+3233_488+3234dup	XM_005263502.1:c.488+3232_488+3234dup	XM_005263502.1:c.488+3231_488+3234dup	XM_005263502.1:c.488+3230_488+3234dup	XM_005263502.1:c.488+3229_488+3234dup	XM_005263502.1:c.488+3226_488+3234dup	XM_005263502.1:c.488+3224_488+3234dup	XM_005263502.1:c.488+3223_488+3234dup	XM_005263502.1:c.488+3211_488+3234dup	XM_005263502.1:c.488+3210_488+3234dup
ESPN transcript variant X1	XM_011542231.1:c.488+3210=	XM_011542231.1:c.488+3221_488+3234del	XM_011542231.1:c.488+3222_488+3234del	XM_011542231.1:c.488+3223_488+3234del	XM_011542231.1:c.488+3224_488+3234del	XM_011542231.1:c.488+3225_488+3234del	XM_011542231.1:c.488+3226_488+3234del	XM_011542231.1:c.488+3227_488+3234del	XM_011542231.1:c.488+3228_488+3234del	XM_011542231.1:c.488+3229_488+3234del	XM_011542231.1:c.488+3230_488+3234del	XM_011542231.1:c.488+3231_488+3234del	XM_011542231.1:c.488+3232_488+3234del	XM_011542231.1:c.488+3233_488+3234del	XM_011542231.1:c.488+3234del	XM_011542231.1:c.488+3234dup	XM_011542231.1:c.488+3233_488+3234dup	XM_011542231.1:c.488+3232_488+3234dup	XM_011542231.1:c.488+3231_488+3234dup	XM_011542231.1:c.488+3230_488+3234dup	XM_011542231.1:c.488+3229_488+3234dup	XM_011542231.1:c.488+3226_488+3234dup	XM_011542231.1:c.488+3224_488+3234dup	XM_011542231.1:c.488+3223_488+3234dup	XM_011542231.1:c.488+3211_488+3234dup	XM_011542231.1:c.488+3210_488+3234dup
ESPN transcript variant X2	XM_011542232.1:c.488+3210=	XM_011542232.1:c.488+3221_488+3234del	XM_011542232.1:c.488+3222_488+3234del	XM_011542232.1:c.488+3223_488+3234del	XM_011542232.1:c.488+3224_488+3234del	XM_011542232.1:c.488+3225_488+3234del	XM_011542232.1:c.488+3226_488+3234del	XM_011542232.1:c.488+3227_488+3234del	XM_011542232.1:c.488+3228_488+3234del	XM_011542232.1:c.488+3229_488+3234del	XM_011542232.1:c.488+3230_488+3234del	XM_011542232.1:c.488+3231_488+3234del	XM_011542232.1:c.488+3232_488+3234del	XM_011542232.1:c.488+3233_488+3234del	XM_011542232.1:c.488+3234del	XM_011542232.1:c.488+3234dup	XM_011542232.1:c.488+3233_488+3234dup	XM_011542232.1:c.488+3232_488+3234dup	XM_011542232.1:c.488+3231_488+3234dup	XM_011542232.1:c.488+3230_488+3234dup	XM_011542232.1:c.488+3229_488+3234dup	XM_011542232.1:c.488+3226_488+3234dup	XM_011542232.1:c.488+3224_488+3234dup	XM_011542232.1:c.488+3223_488+3234dup	XM_011542232.1:c.488+3211_488+3234dup	XM_011542232.1:c.488+3210_488+3234dup
ESPN transcript variant X9	XM_011542237.1:c.488+3210=	XM_011542237.1:c.488+3221_488+3234del	XM_011542237.1:c.488+3222_488+3234del	XM_011542237.1:c.488+3223_488+3234del	XM_011542237.1:c.488+3224_488+3234del	XM_011542237.1:c.488+3225_488+3234del	XM_011542237.1:c.488+3226_488+3234del	XM_011542237.1:c.488+3227_488+3234del	XM_011542237.1:c.488+3228_488+3234del	XM_011542237.1:c.488+3229_488+3234del	XM_011542237.1:c.488+3230_488+3234del	XM_011542237.1:c.488+3231_488+3234del	XM_011542237.1:c.488+3232_488+3234del	XM_011542237.1:c.488+3233_488+3234del	XM_011542237.1:c.488+3234del	XM_011542237.1:c.488+3234dup	XM_011542237.1:c.488+3233_488+3234dup	XM_011542237.1:c.488+3232_488+3234dup	XM_011542237.1:c.488+3231_488+3234dup	XM_011542237.1:c.488+3230_488+3234dup	XM_011542237.1:c.488+3229_488+3234dup	XM_011542237.1:c.488+3226_488+3234dup	XM_011542237.1:c.488+3224_488+3234dup	XM_011542237.1:c.488+3223_488+3234dup	XM_011542237.1:c.488+3211_488+3234dup	XM_011542237.1:c.488+3210_488+3234dup
ESPN transcript variant X10	XM_011542238.4:c.488+3210=	XM_011542238.4:c.488+3221_488+3234del	XM_011542238.4:c.488+3222_488+3234del	XM_011542238.4:c.488+3223_488+3234del	XM_011542238.4:c.488+3224_488+3234del	XM_011542238.4:c.488+3225_488+3234del	XM_011542238.4:c.488+3226_488+3234del	XM_011542238.4:c.488+3227_488+3234del	XM_011542238.4:c.488+3228_488+3234del	XM_011542238.4:c.488+3229_488+3234del	XM_011542238.4:c.488+3230_488+3234del	XM_011542238.4:c.488+3231_488+3234del	XM_011542238.4:c.488+3232_488+3234del	XM_011542238.4:c.488+3233_488+3234del	XM_011542238.4:c.488+3234del	XM_011542238.4:c.488+3234dup	XM_011542238.4:c.488+3233_488+3234dup	XM_011542238.4:c.488+3232_488+3234dup	XM_011542238.4:c.488+3231_488+3234dup	XM_011542238.4:c.488+3230_488+3234dup	XM_011542238.4:c.488+3229_488+3234dup	XM_011542238.4:c.488+3226_488+3234dup	XM_011542238.4:c.488+3224_488+3234dup	XM_011542238.4:c.488+3223_488+3234dup	XM_011542238.4:c.488+3211_488+3234dup	XM_011542238.4:c.488+3210_488+3234dup
ESPN transcript variant X5	XM_017002433.2:c.488+3210=	XM_017002433.2:c.488+3221_488+3234del	XM_017002433.2:c.488+3222_488+3234del	XM_017002433.2:c.488+3223_488+3234del	XM_017002433.2:c.488+3224_488+3234del	XM_017002433.2:c.488+3225_488+3234del	XM_017002433.2:c.488+3226_488+3234del	XM_017002433.2:c.488+3227_488+3234del	XM_017002433.2:c.488+3228_488+3234del	XM_017002433.2:c.488+3229_488+3234del	XM_017002433.2:c.488+3230_488+3234del	XM_017002433.2:c.488+3231_488+3234del	XM_017002433.2:c.488+3232_488+3234del	XM_017002433.2:c.488+3233_488+3234del	XM_017002433.2:c.488+3234del	XM_017002433.2:c.488+3234dup	XM_017002433.2:c.488+3233_488+3234dup	XM_017002433.2:c.488+3232_488+3234dup	XM_017002433.2:c.488+3231_488+3234dup	XM_017002433.2:c.488+3230_488+3234dup	XM_017002433.2:c.488+3229_488+3234dup	XM_017002433.2:c.488+3226_488+3234dup	XM_017002433.2:c.488+3224_488+3234dup	XM_017002433.2:c.488+3223_488+3234dup	XM_017002433.2:c.488+3211_488+3234dup	XM_017002433.2:c.488+3210_488+3234dup

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#.

63 SubSNP, 42 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82964223	Oct 11, 2018 (152)
2	EVA_UK10K_TWINSUK	ss1700206027	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1700206028	Apr 01, 2015 (144)
4	EVA_UK10K_TWINSUK	ss1709906324	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1709909046	Apr 01, 2015 (144)
6	SWEGEN	ss2986238490	Nov 08, 2017 (151)
7	EVA_DECODE	ss3686092216	Jul 12, 2019 (153)
8	EVA_DECODE	ss3686092217	Jul 12, 2019 (153)
9	EVA_DECODE	ss3686092218	Jul 12, 2019 (153)
10	EVA_DECODE	ss3686092219	Jul 12, 2019 (153)
11	EVA_DECODE	ss3686092220	Jul 12, 2019 (153)
12	EVA_DECODE	ss3686092221	Jul 12, 2019 (153)
13	PACBIO	ss3788991212	Jul 12, 2019 (153)
14	PACBIO	ss3793863927	Jul 12, 2019 (153)
15	EVA	ss3826006558	Apr 25, 2020 (154)
16	GNOMAD	ss3987715048	Apr 25, 2021 (155)
17	GNOMAD	ss3987715049	Apr 25, 2021 (155)
18	GNOMAD	ss3987715050	Apr 25, 2021 (155)
19	GNOMAD	ss3987715051	Apr 25, 2021 (155)
20	GNOMAD	ss3987715052	Apr 25, 2021 (155)
21	GNOMAD	ss3987715053	Apr 25, 2021 (155)
22	GNOMAD	ss3987715054	Apr 25, 2021 (155)
23	GNOMAD	ss3987715055	Apr 25, 2021 (155)
24	GNOMAD	ss3987715056	Apr 25, 2021 (155)
25	GNOMAD	ss3987715057	Apr 25, 2021 (155)
26	GNOMAD	ss3987715058	Apr 25, 2021 (155)
27	GNOMAD	ss3987715060	Apr 25, 2021 (155)
28	GNOMAD	ss3987715061	Apr 25, 2021 (155)
29	GNOMAD	ss3987715062	Apr 25, 2021 (155)
30	GNOMAD	ss3987715063	Apr 25, 2021 (155)
31	GNOMAD	ss3987715064	Apr 25, 2021 (155)
32	GNOMAD	ss3987715065	Apr 25, 2021 (155)
33	GNOMAD	ss3987715066	Apr 25, 2021 (155)
34	GNOMAD	ss3987715067	Apr 25, 2021 (155)
35	GNOMAD	ss3987715068	Apr 25, 2021 (155)
36	GNOMAD	ss3987715069	Apr 25, 2021 (155)
37	GNOMAD	ss3987715070	Apr 25, 2021 (155)
38	GNOMAD	ss3987715071	Apr 25, 2021 (155)
39	GNOMAD	ss3987715072	Apr 25, 2021 (155)
40	GNOMAD	ss3987715073	Apr 25, 2021 (155)
41	TOMMO_GENOMICS	ss5142302576	Apr 25, 2021 (155)
42	TOMMO_GENOMICS	ss5142302577	Apr 25, 2021 (155)
43	TOMMO_GENOMICS	ss5142302578	Apr 25, 2021 (155)
44	TOMMO_GENOMICS	ss5142302579	Apr 25, 2021 (155)
45	TOMMO_GENOMICS	ss5142302580	Apr 25, 2021 (155)
46	TOMMO_GENOMICS	ss5142302581	Apr 25, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5241047221	Oct 17, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5241047222	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5241047223	Oct 17, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5241047224	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5442264160	Oct 17, 2022 (156)
52	HUGCELL_USP	ss5442264161	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5442264162	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5442264163	Oct 17, 2022 (156)
55	HUGCELL_USP	ss5442264164	Oct 17, 2022 (156)
56	HUGCELL_USP	ss5442264165	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5666548632	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5666548633	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5666548634	Oct 17, 2022 (156)
60	TOMMO_GENOMICS	ss5666548635	Oct 17, 2022 (156)
61	TOMMO_GENOMICS	ss5666548636	Oct 17, 2022 (156)
62	TOMMO_GENOMICS	ss5666548637	Oct 17, 2022 (156)
63	EVA	ss5848769375	Oct 17, 2022 (156)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 105858 (NC_000001.10:6491688:AAAAAAAAA: 1713/3854) Row 105859 (NC_000001.10:6491689:AAAAAAA: 520/3854)	-	Oct 11, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 105858 (NC_000001.10:6491688:AAAAAAAAA: 1713/3854) Row 105859 (NC_000001.10:6491689:AAAAAAA: 520/3854)	-	Oct 11, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 1461622 (NC_000001.11:6431628::A 6247/55444) Row 1461623 (NC_000001.11:6431628::AA 1663/56808) Row 1461624 (NC_000001.11:6431628::AAA 69/57002)...	-	Apr 25, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 271883 (NC_000001.10:6491688:AAAAAAAA: 1753/15398) Row 271884 (NC_000001.10:6491688::AA 539/15398) Row 271885 (NC_000001.10:6491688:AAAAAAAAA: 275/15398)...	-	Apr 25, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 271883 (NC_000001.10:6491688:AAAAAAAA: 1753/15398) Row 271884 (NC_000001.10:6491688::AA 539/15398) Row 271885 (NC_000001.10:6491688:AAAAAAAAA: 275/15398)...	-	Apr 25, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 271883 (NC_000001.10:6491688:AAAAAAAA: 1753/15398) Row 271884 (NC_000001.10:6491688::AA 539/15398) Row 271885 (NC_000001.10:6491688:AAAAAAAAA: 275/15398)...	-	Apr 25, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 271883 (NC_000001.10:6491688:AAAAAAAA: 1753/15398) Row 271884 (NC_000001.10:6491688::AA 539/15398) Row 271885 (NC_000001.10:6491688:AAAAAAAAA: 275/15398)...	-	Apr 25, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 271883 (NC_000001.10:6491688:AAAAAAAA: 1753/15398) Row 271884 (NC_000001.10:6491688::AA 539/15398) Row 271885 (NC_000001.10:6491688:AAAAAAAAA: 275/15398)...	-	Apr 25, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 271883 (NC_000001.10:6491688:AAAAAAAA: 1753/15398) Row 271884 (NC_000001.10:6491688::AA 539/15398) Row 271885 (NC_000001.10:6491688:AAAAAAAAA: 275/15398)...	-	Apr 25, 2021 (155)
97	14KJPN Submission ignored due to conflicting rows: Row 385736 (NC_000001.11:6431628:AAAAAAAA: 3080/23340) Row 385737 (NC_000001.11:6431628::AA 809/23340) Row 385738 (NC_000001.11:6431628:AAAAAAAAA: 486/23340)...	-	Oct 17, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 385736 (NC_000001.11:6431628:AAAAAAAA: 3080/23340) Row 385737 (NC_000001.11:6431628::AA 809/23340) Row 385738 (NC_000001.11:6431628:AAAAAAAAA: 486/23340)...	-	Oct 17, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 385736 (NC_000001.11:6431628:AAAAAAAA: 3080/23340) Row 385737 (NC_000001.11:6431628::AA 809/23340) Row 385738 (NC_000001.11:6431628:AAAAAAAAA: 486/23340)...	-	Oct 17, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 385736 (NC_000001.11:6431628:AAAAAAAA: 3080/23340) Row 385737 (NC_000001.11:6431628::AA 809/23340) Row 385738 (NC_000001.11:6431628:AAAAAAAAA: 486/23340)...	-	Oct 17, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 385736 (NC_000001.11:6431628:AAAAAAAA: 3080/23340) Row 385737 (NC_000001.11:6431628::AA 809/23340) Row 385738 (NC_000001.11:6431628:AAAAAAAAA: 486/23340)...	-	Oct 17, 2022 (156)
102	14KJPN Submission ignored due to conflicting rows: Row 385736 (NC_000001.11:6431628:AAAAAAAA: 3080/23340) Row 385737 (NC_000001.11:6431628::AA 809/23340) Row 385738 (NC_000001.11:6431628:AAAAAAAAA: 486/23340)...	-	Oct 17, 2022 (156)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 105858 (NC_000001.10:6491688:AAAAAAAAA: 1673/3708) Row 105859 (NC_000001.10:6491689:AAAAAAA: 470/3708)	-	Oct 11, 2018 (152)
104	UK 10K study - Twins Submission ignored due to conflicting rows: Row 105858 (NC_000001.10:6491688:AAAAAAAAA: 1673/3708) Row 105859 (NC_000001.10:6491689:AAAAAAA: 470/3708)	-	Oct 11, 2018 (152)
105	ALFA	NC_000001.11 - 6431629	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3987715073	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3987715072	NC_000001.11:6431628:AAAAAAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3987715071	NC_000001.11:6431628:AAAAAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3987715070	NC_000001.11:6431628:AAAAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3686092221, ss3987715069	NC_000001.11:6431628:AAAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1700206027, ss1700206028, ss2986238490, ss5142302578	NC_000001.10:6491688:AAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3987715068, ss5241047224, ss5442264160, ss5666548634	NC_000001.11:6431628:AAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3686092220	NC_000001.11:6431629:AAAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3826006558, ss5142302576	NC_000001.10:6491688:AAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1709906324, ss1709909046	NC_000001.10:6491689:AAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3987715067, ss5241047222, ss5442264165, ss5666548632, ss5848769375	NC_000001.11:6431628:AAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3686092219	NC_000001.11:6431630:AAAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000001.10:6491689:AAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3987715066, ss5442264164	NC_000001.11:6431628:AAAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3987715065	NC_000001.11:6431628:AAAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3987715064	NC_000001.11:6431628:AAAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3987715063	NC_000001.11:6431628:AAAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715062	NC_000001.11:6431628:AAA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715061	NC_000001.11:6431628:AA:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5142302581	NC_000001.10:6491688:A:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715060, ss5241047223, ss5442264161, ss5666548637	NC_000001.11:6431628:A:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686092218	NC_000001.11:6431637:A:	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3788991212, ss3793863927, ss5142302579	NC_000001.10:6491688::A	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715048, ss5241047221, ss5442264162, ss5666548635	NC_000001.11:6431628::A	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686092217	NC_000001.11:6431638::A	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss82964223	NT_021937.19:2496445::A	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5142302577	NC_000001.10:6491688::AA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715049, ss5442264163, ss5666548633	NC_000001.11:6431628::AA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3686092216	NC_000001.11:6431638::AA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5142302580	NC_000001.10:6491688::AAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715050, ss5666548636	NC_000001.11:6431628::AAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715051	NC_000001.11:6431628::AAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715052	NC_000001.11:6431628::AAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
8376653634	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715053	NC_000001.11:6431628::AAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715054	NC_000001.11:6431628::AAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715055	NC_000001.11:6431628::AAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715056	NC_000001.11:6431628::AAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715057	NC_000001.11:6431628::AAAAAAAAAAAA… NC_000001.11:6431628::AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3987715058	NC_000001.11:6431628::AAAAAAAAAAAA… NC_000001.11:6431628::AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:6431628:AAAAAAAAAAAAA… NC_000001.11:6431628:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs760363517

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

rs760363517