Name: rs200591357
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.

rs200591357

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:55832182-55832199 (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)₆ / del(A)₄ / delAAA / delAA…
del(A)₆ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.1572 (1517/9648, ALFA)
delAA=0.4627 (2317/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: NEDD4 : 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	9648	AAAAAAAAAAAAAAAAAA=0.7810	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0048, AAAAAAAAAAAAAAAA=0.1572, AAAAAAAAAAAAAAAAA=0.0567, AAAAAAAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.739283	0.06067	0.200047	32
European	Sub	8578	AAAAAAAAAAAAAAAAAA=0.7567	AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0054, AAAAAAAAAAAAAAAA=0.1766, AAAAAAAAAAAAAAAAA=0.0610, AAAAAAAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAAAAAAAAAAA=0.0000	0.704285	0.068938	0.226777	32
African	Sub	656	AAAAAAAAAAAAAAAAAA=0.977	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.023, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	28	AAAAAAAAAAAAAAAAAA=0.96	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.04, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	628	AAAAAAAAAAAAAAAAAA=0.978	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.022, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	64	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	16	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	128	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	18	AAAAAAAAAAAAAAAAAA=0.94	AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.06, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	148	AAAAAAAAAAAAAAAAAA=0.932	AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.014, AAAAAAAAAAAAAAAAA=0.054, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000	0.970149	0.0	0.029851	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	9648	(A)₁₈=0.7810	del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0048, delAA=0.1572, delA=0.0567, dupA=0.0003, dup(A)₄=0.0000
Allele Frequency Aggregator	European	Sub	8578	(A)₁₈=0.7567	del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0054, delAA=0.1766, delA=0.0610, dupA=0.0003, dup(A)₄=0.0000
Allele Frequency Aggregator	African	Sub	656	(A)₁₈=0.977	del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.023, dupA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Other	Sub	148	(A)₁₈=0.932	del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.014, delA=0.054, dupA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	128	(A)₁₈=1.000	del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dup(A)₄=0.000
Allele Frequency Aggregator	Asian	Sub	64	(A)₁₈=1.00	del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Latin American 1	Sub	56	(A)₁₈=1.00	del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	18	(A)₁₈=0.94	del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.06, dupA=0.00, dup(A)₄=0.00
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.5373	delAA=0.4627
1000Genomes	African	Sub	1322	(A)₁₈=0.5159	delAA=0.4841
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.6448	delAA=0.3552
1000Genomes	Europe	Sub	1006	(A)₁₈=0.5964	delAA=0.4036
1000Genomes	South Asian	Sub	978	(A)₁₈=0.433	delAA=0.567
1000Genomes	American	Sub	694	(A)₁₈=0.484	delAA=0.516

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 15	NC_000015.10:g.55832194_55832199del
GRCh38.p14 chr 15	NC_000015.10:g.55832196_55832199del
GRCh38.p14 chr 15	NC_000015.10:g.55832197_55832199del
GRCh38.p14 chr 15	NC_000015.10:g.55832198_55832199del
GRCh38.p14 chr 15	NC_000015.10:g.55832199del
GRCh38.p14 chr 15	NC_000015.10:g.55832199dup
GRCh38.p14 chr 15	NC_000015.10:g.55832198_55832199dup
GRCh38.p14 chr 15	NC_000015.10:g.55832197_55832199dup
GRCh38.p14 chr 15	NC_000015.10:g.55832196_55832199dup
GRCh37.p13 chr 15	NC_000015.9:g.56124392_56124397del
GRCh37.p13 chr 15	NC_000015.9:g.56124394_56124397del
GRCh37.p13 chr 15	NC_000015.9:g.56124395_56124397del
GRCh37.p13 chr 15	NC_000015.9:g.56124396_56124397del
GRCh37.p13 chr 15	NC_000015.9:g.56124397del
GRCh37.p13 chr 15	NC_000015.9:g.56124397dup
GRCh37.p13 chr 15	NC_000015.9:g.56124396_56124397dup
GRCh37.p13 chr 15	NC_000015.9:g.56124395_56124397dup
GRCh37.p13 chr 15	NC_000015.9:g.56124394_56124397dup
NEDD4 RefSeqGene	NG_051072.1:g.166560_166565del
NEDD4 RefSeqGene	NG_051072.1:g.166562_166565del
NEDD4 RefSeqGene	NG_051072.1:g.166563_166565del
NEDD4 RefSeqGene	NG_051072.1:g.166564_166565del
NEDD4 RefSeqGene	NG_051072.1:g.166565del
NEDD4 RefSeqGene	NG_051072.1:g.166565dup
NEDD4 RefSeqGene	NG_051072.1:g.166564_166565dup
NEDD4 RefSeqGene	NG_051072.1:g.166563_166565dup
NEDD4 RefSeqGene	NG_051072.1:g.166562_166565dup

Gene: NEDD4, NEDD4 E3 ubiquitin protein ligase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NEDD4 transcript variant 3	NM_001284338.2:c.3784+821… NM_001284338.2:c.3784+821_3784+826del	N/A	Intron Variant
NEDD4 transcript variant 4	NM_001284339.1:c.3736+821… NM_001284339.1:c.3736+821_3736+826del	N/A	Intron Variant
NEDD4 transcript variant 5	NM_001284340.1:c.3733+821… NM_001284340.1:c.3733+821_3733+826del	N/A	Intron Variant
NEDD4 transcript variant 7	NM_001329212.2:c.2086+821… NM_001329212.2:c.2086+821_2086+826del	N/A	Intron Variant
NEDD4 transcript variant 1	NM_006154.4:c.2527+821_25… NM_006154.4:c.2527+821_2527+826del	N/A	Intron Variant
NEDD4 transcript variant 2	NM_198400.3:c.3568+821_35… NM_198400.3:c.3568+821_3568+826del	N/A	Intron Variant
NEDD4 transcript variant 6	NR_104302.2:n.	N/A	Intron Variant
NEDD4 transcript variant X1	XM_011521624.4:c.2452+821… XM_011521624.4:c.2452+821_2452+826del	N/A	Intron Variant
NEDD4 transcript variant X2	XM_011521625.4:c.2374+821… XM_011521625.4:c.2374+821_2374+826del	N/A	Intron Variant
NEDD4 transcript variant X3	XM_011521626.2:c.2374+821… XM_011521626.2:c.2374+821_2374+826del	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)₁₈=	del(A)₆	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 15	NC_000015.10:g.55832182_55832199=	NC_000015.10:g.55832194_55832199del	NC_000015.10:g.55832196_55832199del	NC_000015.10:g.55832197_55832199del	NC_000015.10:g.55832198_55832199del	NC_000015.10:g.55832199del	NC_000015.10:g.55832199dup	NC_000015.10:g.55832198_55832199dup	NC_000015.10:g.55832197_55832199dup	NC_000015.10:g.55832196_55832199dup
GRCh37.p13 chr 15	NC_000015.9:g.56124380_56124397=	NC_000015.9:g.56124392_56124397del	NC_000015.9:g.56124394_56124397del	NC_000015.9:g.56124395_56124397del	NC_000015.9:g.56124396_56124397del	NC_000015.9:g.56124397del	NC_000015.9:g.56124397dup	NC_000015.9:g.56124396_56124397dup	NC_000015.9:g.56124395_56124397dup	NC_000015.9:g.56124394_56124397dup
NEDD4 RefSeqGene	NG_051072.1:g.166548_166565=	NG_051072.1:g.166560_166565del	NG_051072.1:g.166562_166565del	NG_051072.1:g.166563_166565del	NG_051072.1:g.166564_166565del	NG_051072.1:g.166565del	NG_051072.1:g.166565dup	NG_051072.1:g.166564_166565dup	NG_051072.1:g.166563_166565dup	NG_051072.1:g.166562_166565dup
NEDD4 transcript variant 3	NM_001284338.2:c.3784+826=	NM_001284338.2:c.3784+821_3784+826del	NM_001284338.2:c.3784+823_3784+826del	NM_001284338.2:c.3784+824_3784+826del	NM_001284338.2:c.3784+825_3784+826del	NM_001284338.2:c.3784+826del	NM_001284338.2:c.3784+826dup	NM_001284338.2:c.3784+825_3784+826dup	NM_001284338.2:c.3784+824_3784+826dup	NM_001284338.2:c.3784+823_3784+826dup
NEDD4 transcript variant 4	NM_001284339.1:c.3736+826=	NM_001284339.1:c.3736+821_3736+826del	NM_001284339.1:c.3736+823_3736+826del	NM_001284339.1:c.3736+824_3736+826del	NM_001284339.1:c.3736+825_3736+826del	NM_001284339.1:c.3736+826del	NM_001284339.1:c.3736+826dup	NM_001284339.1:c.3736+825_3736+826dup	NM_001284339.1:c.3736+824_3736+826dup	NM_001284339.1:c.3736+823_3736+826dup
NEDD4 transcript variant 5	NM_001284340.1:c.3733+826=	NM_001284340.1:c.3733+821_3733+826del	NM_001284340.1:c.3733+823_3733+826del	NM_001284340.1:c.3733+824_3733+826del	NM_001284340.1:c.3733+825_3733+826del	NM_001284340.1:c.3733+826del	NM_001284340.1:c.3733+826dup	NM_001284340.1:c.3733+825_3733+826dup	NM_001284340.1:c.3733+824_3733+826dup	NM_001284340.1:c.3733+823_3733+826dup
NEDD4 transcript variant 7	NM_001329212.2:c.2086+826=	NM_001329212.2:c.2086+821_2086+826del	NM_001329212.2:c.2086+823_2086+826del	NM_001329212.2:c.2086+824_2086+826del	NM_001329212.2:c.2086+825_2086+826del	NM_001329212.2:c.2086+826del	NM_001329212.2:c.2086+826dup	NM_001329212.2:c.2086+825_2086+826dup	NM_001329212.2:c.2086+824_2086+826dup	NM_001329212.2:c.2086+823_2086+826dup
NEDD4 transcript variant 1	NM_006154.2:c.2527+826=	NM_006154.2:c.2527+821_2527+826del	NM_006154.2:c.2527+823_2527+826del	NM_006154.2:c.2527+824_2527+826del	NM_006154.2:c.2527+825_2527+826del	NM_006154.2:c.2527+826del	NM_006154.2:c.2527+826dup	NM_006154.2:c.2527+825_2527+826dup	NM_006154.2:c.2527+824_2527+826dup	NM_006154.2:c.2527+823_2527+826dup
NEDD4 transcript variant 1	NM_006154.4:c.2527+826=	NM_006154.4:c.2527+821_2527+826del	NM_006154.4:c.2527+823_2527+826del	NM_006154.4:c.2527+824_2527+826del	NM_006154.4:c.2527+825_2527+826del	NM_006154.4:c.2527+826del	NM_006154.4:c.2527+826dup	NM_006154.4:c.2527+825_2527+826dup	NM_006154.4:c.2527+824_2527+826dup	NM_006154.4:c.2527+823_2527+826dup
NEDD4 transcript variant 2	NM_198400.2:c.3568+826=	NM_198400.2:c.3568+821_3568+826del	NM_198400.2:c.3568+823_3568+826del	NM_198400.2:c.3568+824_3568+826del	NM_198400.2:c.3568+825_3568+826del	NM_198400.2:c.3568+826del	NM_198400.2:c.3568+826dup	NM_198400.2:c.3568+825_3568+826dup	NM_198400.2:c.3568+824_3568+826dup	NM_198400.2:c.3568+823_3568+826dup
NEDD4 transcript variant 2	NM_198400.3:c.3568+826=	NM_198400.3:c.3568+821_3568+826del	NM_198400.3:c.3568+823_3568+826del	NM_198400.3:c.3568+824_3568+826del	NM_198400.3:c.3568+825_3568+826del	NM_198400.3:c.3568+826del	NM_198400.3:c.3568+826dup	NM_198400.3:c.3568+825_3568+826dup	NM_198400.3:c.3568+824_3568+826dup	NM_198400.3:c.3568+823_3568+826dup
NEDD4 transcript variant X1	XM_005254406.1:c.3784+826=	XM_005254406.1:c.3784+821_3784+826del	XM_005254406.1:c.3784+823_3784+826del	XM_005254406.1:c.3784+824_3784+826del	XM_005254406.1:c.3784+825_3784+826del	XM_005254406.1:c.3784+826del	XM_005254406.1:c.3784+826dup	XM_005254406.1:c.3784+825_3784+826dup	XM_005254406.1:c.3784+824_3784+826dup	XM_005254406.1:c.3784+823_3784+826dup
NEDD4 transcript variant X2	XM_005254407.1:c.3736+826=	XM_005254407.1:c.3736+821_3736+826del	XM_005254407.1:c.3736+823_3736+826del	XM_005254407.1:c.3736+824_3736+826del	XM_005254407.1:c.3736+825_3736+826del	XM_005254407.1:c.3736+826del	XM_005254407.1:c.3736+826dup	XM_005254407.1:c.3736+825_3736+826dup	XM_005254407.1:c.3736+824_3736+826dup	XM_005254407.1:c.3736+823_3736+826dup
NEDD4 transcript variant X1	XM_011521624.4:c.2452+826=	XM_011521624.4:c.2452+821_2452+826del	XM_011521624.4:c.2452+823_2452+826del	XM_011521624.4:c.2452+824_2452+826del	XM_011521624.4:c.2452+825_2452+826del	XM_011521624.4:c.2452+826del	XM_011521624.4:c.2452+826dup	XM_011521624.4:c.2452+825_2452+826dup	XM_011521624.4:c.2452+824_2452+826dup	XM_011521624.4:c.2452+823_2452+826dup
NEDD4 transcript variant X2	XM_011521625.4:c.2374+826=	XM_011521625.4:c.2374+821_2374+826del	XM_011521625.4:c.2374+823_2374+826del	XM_011521625.4:c.2374+824_2374+826del	XM_011521625.4:c.2374+825_2374+826del	XM_011521625.4:c.2374+826del	XM_011521625.4:c.2374+826dup	XM_011521625.4:c.2374+825_2374+826dup	XM_011521625.4:c.2374+824_2374+826dup	XM_011521625.4:c.2374+823_2374+826dup
NEDD4 transcript variant X3	XM_011521626.2:c.2374+826=	XM_011521626.2:c.2374+821_2374+826del	XM_011521626.2:c.2374+823_2374+826del	XM_011521626.2:c.2374+824_2374+826del	XM_011521626.2:c.2374+825_2374+826del	XM_011521626.2:c.2374+826del	XM_011521626.2:c.2374+826dup	XM_011521626.2:c.2374+825_2374+826dup	XM_011521626.2:c.2374+824_2374+826dup	XM_011521626.2:c.2374+823_2374+826dup

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#.

61 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40564101	Mar 15, 2016 (147)
2	HGSV	ss79976695	Aug 21, 2014 (142)
3	HUMANGENOME_JCVI	ss95659221	Mar 15, 2016 (147)
4	GMI	ss289259262	May 04, 2012 (137)
5	PJP	ss294861052	Aug 21, 2014 (142)
6	SSMP	ss664277001	Apr 01, 2015 (144)
7	BILGI_BIOE	ss666649653	Apr 25, 2013 (138)
8	SSIP	ss947343252	Aug 21, 2014 (142)
9	1000GENOMES	ss1374943628	Aug 21, 2014 (142)
10	DDI	ss1536807444	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1708304352	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1708304441	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710667978	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710667980	Apr 01, 2015 (144)
15	SYSTEMSBIOZJU	ss2628689923	Nov 08, 2017 (151)
16	SWEGEN	ss3013331706	Nov 08, 2017 (151)
17	MCHAISSO	ss3064657207	Nov 08, 2017 (151)
18	URBANLAB	ss3650360531	Oct 12, 2018 (152)
19	EVA_DECODE	ss3697949598	Jul 13, 2019 (153)
20	EVA_DECODE	ss3697949599	Jul 13, 2019 (153)
21	EVA_DECODE	ss3697949600	Jul 13, 2019 (153)
22	EVA_DECODE	ss3697949601	Jul 13, 2019 (153)
23	ACPOP	ss3740950479	Jul 13, 2019 (153)
24	ACPOP	ss3740950480	Jul 13, 2019 (153)
25	ACPOP	ss3740950481	Jul 13, 2019 (153)
26	PACBIO	ss3787854906	Jul 13, 2019 (153)
27	KHV_HUMAN_GENOMES	ss3818440244	Jul 13, 2019 (153)
28	EVA	ss3834249984	Apr 27, 2020 (154)
29	EVA	ss3840723528	Apr 27, 2020 (154)
30	EVA	ss3846212315	Apr 27, 2020 (154)
31	KOGIC	ss3976200864	Apr 27, 2020 (154)
32	KOGIC	ss3976200865	Apr 27, 2020 (154)
33	KOGIC	ss3976200866	Apr 27, 2020 (154)
34	KOGIC	ss3976200867	Apr 27, 2020 (154)
35	GNOMAD	ss4289286271	Apr 26, 2021 (155)
36	GNOMAD	ss4289286272	Apr 26, 2021 (155)
37	GNOMAD	ss4289286273	Apr 26, 2021 (155)
38	GNOMAD	ss4289286274	Apr 26, 2021 (155)
39	GNOMAD	ss4289286276	Apr 26, 2021 (155)
40	GNOMAD	ss4289286277	Apr 26, 2021 (155)
41	GNOMAD	ss4289286278	Apr 26, 2021 (155)
42	GNOMAD	ss4289286279	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5216330841	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5216330842	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5216330843	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5216330844	Apr 26, 2021 (155)
47	1000G_HIGH_COVERAGE	ss5298545466	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5298545467	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5298545468	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5298545469	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5492261420	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5492261421	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5492261422	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5492261423	Oct 16, 2022 (156)
55	EVA	ss5511443135	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5770175265	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5770175266	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5770175267	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5770175268	Oct 16, 2022 (156)
60	EVA	ss5828241609	Oct 16, 2022 (156)
61	EVA	ss5828241610	Oct 16, 2022 (156)
62	1000Genomes	NC_000015.9 - 56124380	Oct 12, 2018 (152)
63	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37003405 (NC_000015.9:56124380:A: 2595/3854) Row 37003406 (NC_000015.9:56124379:AAA: 388/3854)	-	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37003405 (NC_000015.9:56124380:A: 2595/3854) Row 37003406 (NC_000015.9:56124379:AAA: 388/3854)	-	Oct 12, 2018 (152)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 469919632 (NC_000015.10:55832181::A 186/114900) Row 469919633 (NC_000015.10:55832181::AA 2/114922) Row 469919634 (NC_000015.10:55832181::AAA 1/114914)...	-	Apr 26, 2021 (155)
73	Korean Genome Project Submission ignored due to conflicting rows: Row 32578865 (NC_000015.10:55832183:A: 310/1830) Row 32578866 (NC_000015.10:55832182:AA: 516/1830) Row 32578867 (NC_000015.10:55832184::A 63/1830)...	-	Apr 27, 2020 (154)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 32578865 (NC_000015.10:55832183:A: 310/1830) Row 32578866 (NC_000015.10:55832182:AA: 516/1830) Row 32578867 (NC_000015.10:55832184::A 63/1830)...	-	Apr 27, 2020 (154)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 32578865 (NC_000015.10:55832183:A: 310/1830) Row 32578866 (NC_000015.10:55832182:AA: 516/1830) Row 32578867 (NC_000015.10:55832184::A 63/1830)...	-	Apr 27, 2020 (154)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 32578865 (NC_000015.10:55832183:A: 310/1830) Row 32578866 (NC_000015.10:55832182:AA: 516/1830) Row 32578867 (NC_000015.10:55832184::A 63/1830)...	-	Apr 27, 2020 (154)
77	Northern Sweden Submission ignored due to conflicting rows: Row 14235344 (NC_000015.9:56124379:AA: 165/544) Row 14235345 (NC_000015.9:56124379:A: 27/544) Row 14235346 (NC_000015.9:56124379:AAA: 11/544)	-	Jul 13, 2019 (153)
78	Northern Sweden Submission ignored due to conflicting rows: Row 14235344 (NC_000015.9:56124379:AA: 165/544) Row 14235345 (NC_000015.9:56124379:A: 27/544) Row 14235346 (NC_000015.9:56124379:AAA: 11/544)	-	Jul 13, 2019 (153)
79	Northern Sweden Submission ignored due to conflicting rows: Row 14235344 (NC_000015.9:56124379:AA: 165/544) Row 14235345 (NC_000015.9:56124379:A: 27/544) Row 14235346 (NC_000015.9:56124379:AAA: 11/544)	-	Jul 13, 2019 (153)
80	8.3KJPN Submission ignored due to conflicting rows: Row 74300148 (NC_000015.9:56124379:AA: 6133/16758) Row 74300149 (NC_000015.9:56124379:A: 1149/16758) Row 74300150 (NC_000015.9:56124379::A 101/16758)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 74300148 (NC_000015.9:56124379:AA: 6133/16758) Row 74300149 (NC_000015.9:56124379:A: 1149/16758) Row 74300150 (NC_000015.9:56124379::A 101/16758)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 74300148 (NC_000015.9:56124379:AA: 6133/16758) Row 74300149 (NC_000015.9:56124379:A: 1149/16758) Row 74300150 (NC_000015.9:56124379::A 101/16758)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 74300148 (NC_000015.9:56124379:AA: 6133/16758) Row 74300149 (NC_000015.9:56124379:A: 1149/16758) Row 74300150 (NC_000015.9:56124379::A 101/16758)...	-	Apr 26, 2021 (155)
84	14KJPN Submission ignored due to conflicting rows: Row 104012369 (NC_000015.10:55832181:AA: 10442/28258) Row 104012370 (NC_000015.10:55832181:A: 1959/28258) Row 104012371 (NC_000015.10:55832181::A 147/28258)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 104012369 (NC_000015.10:55832181:AA: 10442/28258) Row 104012370 (NC_000015.10:55832181:A: 1959/28258) Row 104012371 (NC_000015.10:55832181::A 147/28258)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 104012369 (NC_000015.10:55832181:AA: 10442/28258) Row 104012370 (NC_000015.10:55832181:A: 1959/28258) Row 104012371 (NC_000015.10:55832181::A 147/28258)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 104012369 (NC_000015.10:55832181:AA: 10442/28258) Row 104012370 (NC_000015.10:55832181:A: 1959/28258) Row 104012371 (NC_000015.10:55832181::A 147/28258)...	-	Oct 16, 2022 (156)
88	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37003405 (NC_000015.9:56124380:A: 2462/3708) Row 37003406 (NC_000015.9:56124379:AAA: 380/3708)	-	Oct 12, 2018 (152)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37003405 (NC_000015.9:56124380:A: 2462/3708) Row 37003406 (NC_000015.9:56124379:AAA: 380/3708)	-	Oct 12, 2018 (152)
90	ALFA	NC_000015.10 - 55832182	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)
rs58373683	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3064657207, ss4289286279	NC_000015.10:55832181:AAAA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1708304352, ss1708304441, ss3013331706, ss3740950481, ss5216330844, ss5828241610	NC_000015.9:56124379:AAA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3697949601, ss3976200867, ss4289286278, ss5298545469, ss5492261423, ss5770175268	NC_000015.10:55832181:AAA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss289259262, ss294861052	NC_000015.8:53911671:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss79976695	NC_000015.8:53911687:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
66657699, ss664277001, ss666649653, ss1374943628, ss1536807444, ss2628689923, ss3740950479, ss3834249984, ss3840723528, ss5216330841, ss5828241609	NC_000015.9:56124379:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss947343252, ss1710667978, ss1710667980	NC_000015.9:56124380:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3650360531, ss3818440244, ss3846212315, ss4289286277, ss5298545466, ss5492261421, ss5770175265	NC_000015.10:55832181:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3697949600, ss3976200865	NC_000015.10:55832182:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss40564101	NT_010194.17:26914936:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss95659221	NT_010194.17:26914952:AA:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3740950480, ss3787854906, ss5216330842	NC_000015.9:56124379:A:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000015.9:56124380:A:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4289286276, ss5298545467, ss5492261420, ss5770175266	NC_000015.10:55832181:A:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3697949599, ss3976200864	NC_000015.10:55832183:A:	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5216330843	NC_000015.9:56124379::A	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4289286271, ss5298545468, ss5492261422, ss5770175267	NC_000015.10:55832181::A	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3697949598, ss3976200866	NC_000015.10:55832184::A	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5511443135	NC_000015.9:56124379::AA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
ss4289286272	NC_000015.10:55832181::AA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4289286273	NC_000015.10:55832181::AAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4289286274	NC_000015.10:55832181::AAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
5488735568	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:55832181:AAAAAAAAAAAA… NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(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 rs200591357

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

rs200591357