Name: rs59213524
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.

rs59213524

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:200663768-200663783 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₇ / dup(A)₁₄
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.01653 (228/13790, ALFA)
delAA=0.0540 (208/3854, ALSPAC)
delAA=0.0599 (222/3708, TWINSUK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DDX59 : 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	13790	AAAAAAAAAAAAAAAA=0.98274	AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.01653, AAAAAAAAAAAAAAA=0.00036, AAAAAAAAAAAAAAAAA=0.00036	0.968335	0.001605	0.03006	24
European	Sub	11038	AAAAAAAAAAAAAAAA=0.97871	AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.02038, AAAAAAAAAAAAAAA=0.00045, AAAAAAAAAAAAAAAAA=0.00045	0.960745	0.001826	0.037429	15
African	Sub	1860	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	78	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1782	AAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	24	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	100	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	350	AAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	70	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	348	AAAAAAAAAAAAAAAA=0.991	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.009, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	0.988506	0.005747	0.005747	32

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	13790	(A)₁₆=0.98274	delAAA=0.00000, delAA=0.01653, delA=0.00036, dupA=0.00036
Allele Frequency Aggregator	European	Sub	11038	(A)₁₆=0.97871	delAAA=0.00000, delAA=0.02038, delA=0.00045, dupA=0.00045
Allele Frequency Aggregator	African	Sub	1860	(A)₁₆=1.0000	delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	350	(A)₁₆=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	348	(A)₁₆=0.991	delAAA=0.000, delAA=0.009, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	100	(A)₁₆=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	70	(A)₁₆=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	24	(A)₁₆=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₆=0.9460	delAA=0.0540
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₆=0.9401	delAA=0.0599

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.200663781_200663783del
GRCh38.p14 chr 1	NC_000001.11:g.200663782_200663783del
GRCh38.p14 chr 1	NC_000001.11:g.200663783del
GRCh38.p14 chr 1	NC_000001.11:g.200663783dup
GRCh38.p14 chr 1	NC_000001.11:g.200663782_200663783dup
GRCh38.p14 chr 1	NC_000001.11:g.200663781_200663783dup
GRCh38.p14 chr 1	NC_000001.11:g.200663777_200663783dup
GRCh38.p14 chr 1	NC_000001.11:g.200663770_200663783dup
GRCh37.p13 chr 1	NC_000001.10:g.200632909_200632911del
GRCh37.p13 chr 1	NC_000001.10:g.200632910_200632911del
GRCh37.p13 chr 1	NC_000001.10:g.200632911del
GRCh37.p13 chr 1	NC_000001.10:g.200632911dup
GRCh37.p13 chr 1	NC_000001.10:g.200632910_200632911dup
GRCh37.p13 chr 1	NC_000001.10:g.200632909_200632911dup
GRCh37.p13 chr 1	NC_000001.10:g.200632905_200632911dup
GRCh37.p13 chr 1	NC_000001.10:g.200632898_200632911dup
DDX59 RefSeqGene	NG_053192.1:g.11229_11231del
DDX59 RefSeqGene	NG_053192.1:g.11230_11231del
DDX59 RefSeqGene	NG_053192.1:g.11231del
DDX59 RefSeqGene	NG_053192.1:g.11231dup
DDX59 RefSeqGene	NG_053192.1:g.11230_11231dup
DDX59 RefSeqGene	NG_053192.1:g.11229_11231dup
DDX59 RefSeqGene	NG_053192.1:g.11225_11231dup
DDX59 RefSeqGene	NG_053192.1:g.11218_11231dup

Gene: DDX59, DEAD-box helicase 59 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DDX59 transcript variant 1	NM_001031725.6:c.972+149_… NM_001031725.6:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 2	NM_001320181.2:c.972+149_… NM_001320181.2:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 3	NM_001320182.1:c.972+149_… NM_001320182.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 4	NM_001349799.3:c.972+149_… NM_001349799.3:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 5	NM_001349800.3:c.972+149_… NM_001349800.3:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 6	NM_001349801.3:c.972+149_… NM_001349801.3:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 7	NM_001349802.3:c.972+149_… NM_001349802.3:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 8	NM_001349803.3:c.972+149_… NM_001349803.3:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant 9	NM_001349804.2:c.972+149_… NM_001349804.2:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X1	XM_017002432.3:c.972+149_… XM_017002432.3:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X2	XM_047431458.1:c.972+149_… XM_047431458.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X3	XM_047431459.1:c.972+149_… XM_047431459.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X4	XM_047431461.1:c.972+149_… XM_047431461.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X5	XM_047431466.1:c.972+149_… XM_047431466.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X6	XM_047431468.1:c.972+149_… XM_047431468.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X7	XM_047431471.1:c.972+149_… XM_047431471.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X8	XM_047431472.1:c.972+149_… XM_047431472.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X9	XM_047431475.1:c.972+149_… XM_047431475.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X10	XM_047431477.1:c.972+149_… XM_047431477.1:c.972+149_972+151del	N/A	Intron Variant
DDX59 transcript variant X11	XM_047431480.1:c.972+149_… XM_047431480.1:c.972+149_972+151del	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.

Allele: delAA (allele ID: 1211510 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001595675.3	not provided	Benign

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)₁₆=	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇	dup(A)₁₄
GRCh38.p14 chr 1	NC_000001.11:g.200663768_200663783=	NC_000001.11:g.200663781_200663783del	NC_000001.11:g.200663782_200663783del	NC_000001.11:g.200663783del	NC_000001.11:g.200663783dup	NC_000001.11:g.200663782_200663783dup	NC_000001.11:g.200663781_200663783dup	NC_000001.11:g.200663777_200663783dup	NC_000001.11:g.200663770_200663783dup
GRCh37.p13 chr 1	NC_000001.10:g.200632896_200632911=	NC_000001.10:g.200632909_200632911del	NC_000001.10:g.200632910_200632911del	NC_000001.10:g.200632911del	NC_000001.10:g.200632911dup	NC_000001.10:g.200632910_200632911dup	NC_000001.10:g.200632909_200632911dup	NC_000001.10:g.200632905_200632911dup	NC_000001.10:g.200632898_200632911dup
DDX59 RefSeqGene	NG_053192.1:g.11216_11231=	NG_053192.1:g.11229_11231del	NG_053192.1:g.11230_11231del	NG_053192.1:g.11231del	NG_053192.1:g.11231dup	NG_053192.1:g.11230_11231dup	NG_053192.1:g.11229_11231dup	NG_053192.1:g.11225_11231dup	NG_053192.1:g.11218_11231dup
DDX59 transcript	NM_001031725.4:c.972+151=	NM_001031725.4:c.972+149_972+151del	NM_001031725.4:c.972+150_972+151del	NM_001031725.4:c.972+151del	NM_001031725.4:c.972+151dup	NM_001031725.4:c.972+150_972+151dup	NM_001031725.4:c.972+149_972+151dup	NM_001031725.4:c.972+145_972+151dup	NM_001031725.4:c.972+138_972+151dup
DDX59 transcript variant 1	NM_001031725.6:c.972+151=	NM_001031725.6:c.972+149_972+151del	NM_001031725.6:c.972+150_972+151del	NM_001031725.6:c.972+151del	NM_001031725.6:c.972+151dup	NM_001031725.6:c.972+150_972+151dup	NM_001031725.6:c.972+149_972+151dup	NM_001031725.6:c.972+145_972+151dup	NM_001031725.6:c.972+138_972+151dup
DDX59 transcript variant 2	NM_001320181.2:c.972+151=	NM_001320181.2:c.972+149_972+151del	NM_001320181.2:c.972+150_972+151del	NM_001320181.2:c.972+151del	NM_001320181.2:c.972+151dup	NM_001320181.2:c.972+150_972+151dup	NM_001320181.2:c.972+149_972+151dup	NM_001320181.2:c.972+145_972+151dup	NM_001320181.2:c.972+138_972+151dup
DDX59 transcript variant 3	NM_001320182.1:c.972+151=	NM_001320182.1:c.972+149_972+151del	NM_001320182.1:c.972+150_972+151del	NM_001320182.1:c.972+151del	NM_001320182.1:c.972+151dup	NM_001320182.1:c.972+150_972+151dup	NM_001320182.1:c.972+149_972+151dup	NM_001320182.1:c.972+145_972+151dup	NM_001320182.1:c.972+138_972+151dup
DDX59 transcript variant 4	NM_001349799.3:c.972+151=	NM_001349799.3:c.972+149_972+151del	NM_001349799.3:c.972+150_972+151del	NM_001349799.3:c.972+151del	NM_001349799.3:c.972+151dup	NM_001349799.3:c.972+150_972+151dup	NM_001349799.3:c.972+149_972+151dup	NM_001349799.3:c.972+145_972+151dup	NM_001349799.3:c.972+138_972+151dup
DDX59 transcript variant 5	NM_001349800.3:c.972+151=	NM_001349800.3:c.972+149_972+151del	NM_001349800.3:c.972+150_972+151del	NM_001349800.3:c.972+151del	NM_001349800.3:c.972+151dup	NM_001349800.3:c.972+150_972+151dup	NM_001349800.3:c.972+149_972+151dup	NM_001349800.3:c.972+145_972+151dup	NM_001349800.3:c.972+138_972+151dup
DDX59 transcript variant 6	NM_001349801.3:c.972+151=	NM_001349801.3:c.972+149_972+151del	NM_001349801.3:c.972+150_972+151del	NM_001349801.3:c.972+151del	NM_001349801.3:c.972+151dup	NM_001349801.3:c.972+150_972+151dup	NM_001349801.3:c.972+149_972+151dup	NM_001349801.3:c.972+145_972+151dup	NM_001349801.3:c.972+138_972+151dup
DDX59 transcript variant 7	NM_001349802.3:c.972+151=	NM_001349802.3:c.972+149_972+151del	NM_001349802.3:c.972+150_972+151del	NM_001349802.3:c.972+151del	NM_001349802.3:c.972+151dup	NM_001349802.3:c.972+150_972+151dup	NM_001349802.3:c.972+149_972+151dup	NM_001349802.3:c.972+145_972+151dup	NM_001349802.3:c.972+138_972+151dup
DDX59 transcript variant 8	NM_001349803.3:c.972+151=	NM_001349803.3:c.972+149_972+151del	NM_001349803.3:c.972+150_972+151del	NM_001349803.3:c.972+151del	NM_001349803.3:c.972+151dup	NM_001349803.3:c.972+150_972+151dup	NM_001349803.3:c.972+149_972+151dup	NM_001349803.3:c.972+145_972+151dup	NM_001349803.3:c.972+138_972+151dup
DDX59 transcript variant 9	NM_001349804.2:c.972+151=	NM_001349804.2:c.972+149_972+151del	NM_001349804.2:c.972+150_972+151del	NM_001349804.2:c.972+151del	NM_001349804.2:c.972+151dup	NM_001349804.2:c.972+150_972+151dup	NM_001349804.2:c.972+149_972+151dup	NM_001349804.2:c.972+145_972+151dup	NM_001349804.2:c.972+138_972+151dup
DDX59 transcript variant X4	XM_005245519.1:c.972+151=	XM_005245519.1:c.972+149_972+151del	XM_005245519.1:c.972+150_972+151del	XM_005245519.1:c.972+151del	XM_005245519.1:c.972+151dup	XM_005245519.1:c.972+150_972+151dup	XM_005245519.1:c.972+149_972+151dup	XM_005245519.1:c.972+145_972+151dup	XM_005245519.1:c.972+138_972+151dup
DDX59 transcript variant X3	XM_005245520.1:c.972+151=	XM_005245520.1:c.972+149_972+151del	XM_005245520.1:c.972+150_972+151del	XM_005245520.1:c.972+151del	XM_005245520.1:c.972+151dup	XM_005245520.1:c.972+150_972+151dup	XM_005245520.1:c.972+149_972+151dup	XM_005245520.1:c.972+145_972+151dup	XM_005245520.1:c.972+138_972+151dup
DDX59 transcript variant X5	XM_005245521.1:c.972+151=	XM_005245521.1:c.972+149_972+151del	XM_005245521.1:c.972+150_972+151del	XM_005245521.1:c.972+151del	XM_005245521.1:c.972+151dup	XM_005245521.1:c.972+150_972+151dup	XM_005245521.1:c.972+149_972+151dup	XM_005245521.1:c.972+145_972+151dup	XM_005245521.1:c.972+138_972+151dup
DDX59 transcript variant X1	XM_017002432.3:c.972+151=	XM_017002432.3:c.972+149_972+151del	XM_017002432.3:c.972+150_972+151del	XM_017002432.3:c.972+151del	XM_017002432.3:c.972+151dup	XM_017002432.3:c.972+150_972+151dup	XM_017002432.3:c.972+149_972+151dup	XM_017002432.3:c.972+145_972+151dup	XM_017002432.3:c.972+138_972+151dup
DDX59 transcript variant X2	XM_047431458.1:c.972+151=	XM_047431458.1:c.972+149_972+151del	XM_047431458.1:c.972+150_972+151del	XM_047431458.1:c.972+151del	XM_047431458.1:c.972+151dup	XM_047431458.1:c.972+150_972+151dup	XM_047431458.1:c.972+149_972+151dup	XM_047431458.1:c.972+145_972+151dup	XM_047431458.1:c.972+138_972+151dup
DDX59 transcript variant X3	XM_047431459.1:c.972+151=	XM_047431459.1:c.972+149_972+151del	XM_047431459.1:c.972+150_972+151del	XM_047431459.1:c.972+151del	XM_047431459.1:c.972+151dup	XM_047431459.1:c.972+150_972+151dup	XM_047431459.1:c.972+149_972+151dup	XM_047431459.1:c.972+145_972+151dup	XM_047431459.1:c.972+138_972+151dup
DDX59 transcript variant X4	XM_047431461.1:c.972+151=	XM_047431461.1:c.972+149_972+151del	XM_047431461.1:c.972+150_972+151del	XM_047431461.1:c.972+151del	XM_047431461.1:c.972+151dup	XM_047431461.1:c.972+150_972+151dup	XM_047431461.1:c.972+149_972+151dup	XM_047431461.1:c.972+145_972+151dup	XM_047431461.1:c.972+138_972+151dup
DDX59 transcript variant X5	XM_047431466.1:c.972+151=	XM_047431466.1:c.972+149_972+151del	XM_047431466.1:c.972+150_972+151del	XM_047431466.1:c.972+151del	XM_047431466.1:c.972+151dup	XM_047431466.1:c.972+150_972+151dup	XM_047431466.1:c.972+149_972+151dup	XM_047431466.1:c.972+145_972+151dup	XM_047431466.1:c.972+138_972+151dup
DDX59 transcript variant X6	XM_047431468.1:c.972+151=	XM_047431468.1:c.972+149_972+151del	XM_047431468.1:c.972+150_972+151del	XM_047431468.1:c.972+151del	XM_047431468.1:c.972+151dup	XM_047431468.1:c.972+150_972+151dup	XM_047431468.1:c.972+149_972+151dup	XM_047431468.1:c.972+145_972+151dup	XM_047431468.1:c.972+138_972+151dup
DDX59 transcript variant X7	XM_047431471.1:c.972+151=	XM_047431471.1:c.972+149_972+151del	XM_047431471.1:c.972+150_972+151del	XM_047431471.1:c.972+151del	XM_047431471.1:c.972+151dup	XM_047431471.1:c.972+150_972+151dup	XM_047431471.1:c.972+149_972+151dup	XM_047431471.1:c.972+145_972+151dup	XM_047431471.1:c.972+138_972+151dup
DDX59 transcript variant X8	XM_047431472.1:c.972+151=	XM_047431472.1:c.972+149_972+151del	XM_047431472.1:c.972+150_972+151del	XM_047431472.1:c.972+151del	XM_047431472.1:c.972+151dup	XM_047431472.1:c.972+150_972+151dup	XM_047431472.1:c.972+149_972+151dup	XM_047431472.1:c.972+145_972+151dup	XM_047431472.1:c.972+138_972+151dup
DDX59 transcript variant X9	XM_047431475.1:c.972+151=	XM_047431475.1:c.972+149_972+151del	XM_047431475.1:c.972+150_972+151del	XM_047431475.1:c.972+151del	XM_047431475.1:c.972+151dup	XM_047431475.1:c.972+150_972+151dup	XM_047431475.1:c.972+149_972+151dup	XM_047431475.1:c.972+145_972+151dup	XM_047431475.1:c.972+138_972+151dup
DDX59 transcript variant X10	XM_047431477.1:c.972+151=	XM_047431477.1:c.972+149_972+151del	XM_047431477.1:c.972+150_972+151del	XM_047431477.1:c.972+151del	XM_047431477.1:c.972+151dup	XM_047431477.1:c.972+150_972+151dup	XM_047431477.1:c.972+149_972+151dup	XM_047431477.1:c.972+145_972+151dup	XM_047431477.1:c.972+138_972+151dup
DDX59 transcript variant X11	XM_047431480.1:c.972+151=	XM_047431480.1:c.972+149_972+151del	XM_047431480.1:c.972+150_972+151del	XM_047431480.1:c.972+151del	XM_047431480.1:c.972+151dup	XM_047431480.1:c.972+150_972+151dup	XM_047431480.1:c.972+149_972+151dup	XM_047431480.1:c.972+145_972+151dup	XM_047431480.1:c.972+138_972+151dup

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#.

40 SubSNP, 19 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83711288	Sep 08, 2015 (146)
2	GMI	ss288078842	May 04, 2012 (137)
3	SSMP	ss663148242	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1701640883	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1701641113	Apr 01, 2015 (144)
6	HAMMER_LAB	ss1795565557	Sep 08, 2015 (146)
7	SWEGEN	ss2988265476	Nov 08, 2017 (151)
8	MCHAISSO	ss3063621506	Nov 08, 2017 (151)
9	MCHAISSO	ss3065344836	Nov 08, 2017 (151)
10	EVA_DECODE	ss3688407030	Jul 12, 2019 (153)
11	EVA_DECODE	ss3688407031	Jul 12, 2019 (153)
12	EVA_DECODE	ss3688407032	Jul 12, 2019 (153)
13	EVA_DECODE	ss3688407033	Jul 12, 2019 (153)
14	PACBIO	ss3783657158	Jul 12, 2019 (153)
15	EVA	ss3826586865	Apr 25, 2020 (154)
16	GNOMAD	ss4009324414	Apr 25, 2021 (155)
17	GNOMAD	ss4009324415	Apr 25, 2021 (155)
18	GNOMAD	ss4009324416	Apr 25, 2021 (155)
19	GNOMAD	ss4009324417	Apr 25, 2021 (155)
20	GNOMAD	ss4009324418	Apr 25, 2021 (155)
21	GNOMAD	ss4009324420	Apr 25, 2021 (155)
22	GNOMAD	ss4009324421	Apr 25, 2021 (155)
23	GNOMAD	ss4009324422	Apr 25, 2021 (155)
24	TOMMO_GENOMICS	ss5147924410	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5147924411	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5147924412	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5147924413	Apr 25, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5245405879	Oct 12, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5245405880	Oct 12, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5245405881	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5445882746	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5445882747	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5445882748	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5675534686	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5675534687	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5675534688	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5675534689	Oct 12, 2022 (156)
38	EVA	ss5833105396	Oct 12, 2022 (156)
39	EVA	ss5849236721	Oct 12, 2022 (156)
40	EVA	ss5939055456	Oct 12, 2022 (156)
41	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 200632896	Oct 11, 2018 (152)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36367626 (NC_000001.11:200663767::A 471/97244) Row 36367627 (NC_000001.11:200663767::AA 6/97380) Row 36367628 (NC_000001.11:200663767::AAA 2/97418)...	-	Apr 25, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 5893717 (NC_000001.10:200632895:AA: 6504/16760) Row 5893718 (NC_000001.10:200632895:AAA: 9/16760) Row 5893719 (NC_000001.10:200632895:A: 476/16760)...	-	Apr 25, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 5893717 (NC_000001.10:200632895:AA: 6504/16760) Row 5893718 (NC_000001.10:200632895:AAA: 9/16760) Row 5893719 (NC_000001.10:200632895:A: 476/16760)...	-	Apr 25, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 5893717 (NC_000001.10:200632895:AA: 6504/16760) Row 5893718 (NC_000001.10:200632895:AAA: 9/16760) Row 5893719 (NC_000001.10:200632895:A: 476/16760)...	-	Apr 25, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 5893717 (NC_000001.10:200632895:AA: 6504/16760) Row 5893718 (NC_000001.10:200632895:AAA: 9/16760) Row 5893719 (NC_000001.10:200632895:A: 476/16760)...	-	Apr 25, 2021 (155)
54	14KJPN Submission ignored due to conflicting rows: Row 9371790 (NC_000001.11:200663767:AA: 10968/28256) Row 9371791 (NC_000001.11:200663767:AAA: 13/28256) Row 9371792 (NC_000001.11:200663767:A: 783/28256)...	-	Oct 12, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 9371790 (NC_000001.11:200663767:AA: 10968/28256) Row 9371791 (NC_000001.11:200663767:AAA: 13/28256) Row 9371792 (NC_000001.11:200663767:A: 783/28256)...	-	Oct 12, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 9371790 (NC_000001.11:200663767:AA: 10968/28256) Row 9371791 (NC_000001.11:200663767:AAA: 13/28256) Row 9371792 (NC_000001.11:200663767:A: 783/28256)...	-	Oct 12, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 9371790 (NC_000001.11:200663767:AA: 10968/28256) Row 9371791 (NC_000001.11:200663767:AAA: 13/28256) Row 9371792 (NC_000001.11:200663767:A: 783/28256)...	-	Oct 12, 2022 (156)
58	UK 10K study - Twins	NC_000001.10 - 200632896	Oct 11, 2018 (152)
59	ALFA	NC_000001.11 - 200663768	Apr 25, 2021 (155)
60	ClinVar	RCV001595675.3	Oct 12, 2022 (156)

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)
rs201177757	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5147924411	NC_000001.10:200632895:AAA:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4009324422, ss5675534687	NC_000001.11:200663767:AAA:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
13565743162	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss83711288	NC_000001.8:197364566:AA:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss288078842	NC_000001.9:198899518:AA:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
2773475, 2773475, ss663148242, ss1701640883, ss1701641113, ss1795565557, ss2988265476, ss3826586865, ss5147924410, ss5833105396, ss5939055456	NC_000001.10:200632895:AA:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3063621506, ss3065344836, ss3688407033, ss4009324421, ss5245405879, ss5445882746, ss5675534686, ss5849236721	NC_000001.11:200663767:AA:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
RCV001595675.3, 13565743162	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3783657158, ss5147924412	NC_000001.10:200632895:A:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4009324420, ss5245405880, ss5445882748, ss5675534688	NC_000001.11:200663767:A:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
13565743162	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3688407032	NC_000001.11:200663768:A:	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5147924413	NC_000001.10:200632895::A	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4009324414, ss5245405881, ss5445882747, ss5675534689	NC_000001.11:200663767::A	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
13565743162	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3688407031	NC_000001.11:200663769::A	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4009324415	NC_000001.11:200663767::AA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3688407030	NC_000001.11:200663769::AA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4009324416	NC_000001.11:200663767::AAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4009324417	NC_000001.11:200663767::AAAAAAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009324418	NC_000001.11:200663767::AAAAAAAAAA… NC_000001.11:200663767::AAAAAAAAAAAAAA	NC_000001.11:200663767:AAAAAAAAAAA… NC_000001.11:200663767:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs59213524

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs59213524