Name: rs60657099
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.

rs60657099

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:200649629-200649643 (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: delAA / delA / dupA / dupAA / dupA…
delAA / delA / dupA / dupAA / dupAAA / dup(A)₇ / dup(A)₈
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.00 (0/74, ALFA)
delA=0.00 (0/74, ALFA)
dupA=0.00 (0/74, ALFA) (+ 2 more)
dupAA=0.00 (0/74, ALFA)
dupAAA=0.00 (0/74, ALFA)

Clinical Significance: Not 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	74	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	42	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	30	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	30	AAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	2	AAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	74	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	European	Sub	42	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	African	Sub	30	(A)₁₅=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	2	(A)₁₅=1.0	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₅=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₅=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₅=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₅=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.200649642_200649643del
GRCh38.p14 chr 1	NC_000001.11:g.200649643del
GRCh38.p14 chr 1	NC_000001.11:g.200649643dup
GRCh38.p14 chr 1	NC_000001.11:g.200649642_200649643dup
GRCh38.p14 chr 1	NC_000001.11:g.200649641_200649643dup
GRCh38.p14 chr 1	NC_000001.11:g.200649637_200649643dup
GRCh38.p14 chr 1	NC_000001.11:g.200649636_200649643dup
GRCh37.p13 chr 1	NC_000001.10:g.200618770_200618771del
GRCh37.p13 chr 1	NC_000001.10:g.200618771del
GRCh37.p13 chr 1	NC_000001.10:g.200618771dup
GRCh37.p13 chr 1	NC_000001.10:g.200618770_200618771dup
GRCh37.p13 chr 1	NC_000001.10:g.200618769_200618771dup
GRCh37.p13 chr 1	NC_000001.10:g.200618765_200618771dup
GRCh37.p13 chr 1	NC_000001.10:g.200618764_200618771dup
DDX59 RefSeqGene	NG_053192.1:g.25369_25370del
DDX59 RefSeqGene	NG_053192.1:g.25370del
DDX59 RefSeqGene	NG_053192.1:g.25370dup
DDX59 RefSeqGene	NG_053192.1:g.25369_25370dup
DDX59 RefSeqGene	NG_053192.1:g.25368_25370dup
DDX59 RefSeqGene	NG_053192.1:g.25364_25370dup
DDX59 RefSeqGene	NG_053192.1:g.25363_25370dup

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

Molecule type	Change	Amino acid[Codon]	SO Term
DDX59 transcript variant 1	NM_001031725.6:c.1315-404… NM_001031725.6:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant 2	NM_001320181.2:c.1315-404… NM_001320181.2:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant 3	NM_001320182.1:c.973-404_… NM_001320182.1:c.973-404_973-403del	N/A	Intron Variant
DDX59 transcript variant 4	NM_001349799.3:c.1315-404… NM_001349799.3:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant 5	NM_001349800.3:c.1315-404… NM_001349800.3:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant 6	NM_001349801.3:c.1315-404… NM_001349801.3:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant 7	NM_001349802.3:c.1315-404… NM_001349802.3:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant 8	NM_001349803.3:c.1063-404… NM_001349803.3:c.1063-404_1063-403del	N/A	Intron Variant
DDX59 transcript variant 9	NM_001349804.2:c.1063-511… NM_001349804.2:c.1063-5113_1063-5112del	N/A	Intron Variant
DDX59 transcript variant X1	XM_017002432.3:c.1315-404… XM_017002432.3:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant X2	XM_047431458.1:c.1315-404… XM_047431458.1:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant X3	XM_047431459.1:c.1315-404… XM_047431459.1:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant X4	XM_047431461.1:c.1315-404… XM_047431461.1:c.1315-404_1315-403del	N/A	Intron Variant
DDX59 transcript variant X5	XM_047431466.1:c.1063-404… XM_047431466.1:c.1063-404_1063-403del	N/A	Intron Variant
DDX59 transcript variant X6	XM_047431468.1:c.1063-404… XM_047431468.1:c.1063-404_1063-403del	N/A	Intron Variant
DDX59 transcript variant X7	XM_047431471.1:c.1063-404… XM_047431471.1:c.1063-404_1063-403del	N/A	Intron Variant
DDX59 transcript variant X8	XM_047431472.1:c.1063-404… XM_047431472.1:c.1063-404_1063-403del	N/A	Intron Variant
DDX59 transcript variant X9	XM_047431475.1:c.1063-404… XM_047431475.1:c.1063-404_1063-403del	N/A	Intron Variant
DDX59 transcript variant X10	XM_047431477.1:c.1173-404… XM_047431477.1:c.1173-404_1173-403del	N/A	Intron Variant
DDX59 transcript variant X11	XM_047431480.1:c.	N/A	Genic Downstream 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)₁₅=	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇	dup(A)₈
GRCh38.p14 chr 1	NC_000001.11:g.200649629_200649643=	NC_000001.11:g.200649642_200649643del	NC_000001.11:g.200649643del	NC_000001.11:g.200649643dup	NC_000001.11:g.200649642_200649643dup	NC_000001.11:g.200649641_200649643dup	NC_000001.11:g.200649637_200649643dup	NC_000001.11:g.200649636_200649643dup
GRCh37.p13 chr 1	NC_000001.10:g.200618757_200618771=	NC_000001.10:g.200618770_200618771del	NC_000001.10:g.200618771del	NC_000001.10:g.200618771dup	NC_000001.10:g.200618770_200618771dup	NC_000001.10:g.200618769_200618771dup	NC_000001.10:g.200618765_200618771dup	NC_000001.10:g.200618764_200618771dup
DDX59 RefSeqGene	NG_053192.1:g.25356_25370=	NG_053192.1:g.25369_25370del	NG_053192.1:g.25370del	NG_053192.1:g.25370dup	NG_053192.1:g.25369_25370dup	NG_053192.1:g.25368_25370dup	NG_053192.1:g.25364_25370dup	NG_053192.1:g.25363_25370dup
DDX59 transcript	NM_001031725.4:c.1315-403=	NM_001031725.4:c.1315-404_1315-403del	NM_001031725.4:c.1315-403del	NM_001031725.4:c.1315-403dup	NM_001031725.4:c.1315-404_1315-403dup	NM_001031725.4:c.1315-405_1315-403dup	NM_001031725.4:c.1315-409_1315-403dup	NM_001031725.4:c.1315-410_1315-403dup
DDX59 transcript variant 1	NM_001031725.6:c.1315-403=	NM_001031725.6:c.1315-404_1315-403del	NM_001031725.6:c.1315-403del	NM_001031725.6:c.1315-403dup	NM_001031725.6:c.1315-404_1315-403dup	NM_001031725.6:c.1315-405_1315-403dup	NM_001031725.6:c.1315-409_1315-403dup	NM_001031725.6:c.1315-410_1315-403dup
DDX59 transcript variant 2	NM_001320181.2:c.1315-403=	NM_001320181.2:c.1315-404_1315-403del	NM_001320181.2:c.1315-403del	NM_001320181.2:c.1315-403dup	NM_001320181.2:c.1315-404_1315-403dup	NM_001320181.2:c.1315-405_1315-403dup	NM_001320181.2:c.1315-409_1315-403dup	NM_001320181.2:c.1315-410_1315-403dup
DDX59 transcript variant 3	NM_001320182.1:c.973-403=	NM_001320182.1:c.973-404_973-403del	NM_001320182.1:c.973-403del	NM_001320182.1:c.973-403dup	NM_001320182.1:c.973-404_973-403dup	NM_001320182.1:c.973-405_973-403dup	NM_001320182.1:c.973-409_973-403dup	NM_001320182.1:c.973-410_973-403dup
DDX59 transcript variant 4	NM_001349799.3:c.1315-403=	NM_001349799.3:c.1315-404_1315-403del	NM_001349799.3:c.1315-403del	NM_001349799.3:c.1315-403dup	NM_001349799.3:c.1315-404_1315-403dup	NM_001349799.3:c.1315-405_1315-403dup	NM_001349799.3:c.1315-409_1315-403dup	NM_001349799.3:c.1315-410_1315-403dup
DDX59 transcript variant 5	NM_001349800.3:c.1315-403=	NM_001349800.3:c.1315-404_1315-403del	NM_001349800.3:c.1315-403del	NM_001349800.3:c.1315-403dup	NM_001349800.3:c.1315-404_1315-403dup	NM_001349800.3:c.1315-405_1315-403dup	NM_001349800.3:c.1315-409_1315-403dup	NM_001349800.3:c.1315-410_1315-403dup
DDX59 transcript variant 6	NM_001349801.3:c.1315-403=	NM_001349801.3:c.1315-404_1315-403del	NM_001349801.3:c.1315-403del	NM_001349801.3:c.1315-403dup	NM_001349801.3:c.1315-404_1315-403dup	NM_001349801.3:c.1315-405_1315-403dup	NM_001349801.3:c.1315-409_1315-403dup	NM_001349801.3:c.1315-410_1315-403dup
DDX59 transcript variant 7	NM_001349802.3:c.1315-403=	NM_001349802.3:c.1315-404_1315-403del	NM_001349802.3:c.1315-403del	NM_001349802.3:c.1315-403dup	NM_001349802.3:c.1315-404_1315-403dup	NM_001349802.3:c.1315-405_1315-403dup	NM_001349802.3:c.1315-409_1315-403dup	NM_001349802.3:c.1315-410_1315-403dup
DDX59 transcript variant 8	NM_001349803.3:c.1063-403=	NM_001349803.3:c.1063-404_1063-403del	NM_001349803.3:c.1063-403del	NM_001349803.3:c.1063-403dup	NM_001349803.3:c.1063-404_1063-403dup	NM_001349803.3:c.1063-405_1063-403dup	NM_001349803.3:c.1063-409_1063-403dup	NM_001349803.3:c.1063-410_1063-403dup
DDX59 transcript variant 9	NM_001349804.2:c.1063-5112=	NM_001349804.2:c.1063-5113_1063-5112del	NM_001349804.2:c.1063-5112del	NM_001349804.2:c.1063-5112dup	NM_001349804.2:c.1063-5113_1063-5112dup	NM_001349804.2:c.1063-5114_1063-5112dup	NM_001349804.2:c.1063-5118_1063-5112dup	NM_001349804.2:c.1063-5119_1063-5112dup
DDX59 transcript variant X4	XM_005245519.1:c.1315-403=	XM_005245519.1:c.1315-404_1315-403del	XM_005245519.1:c.1315-403del	XM_005245519.1:c.1315-403dup	XM_005245519.1:c.1315-404_1315-403dup	XM_005245519.1:c.1315-405_1315-403dup	XM_005245519.1:c.1315-409_1315-403dup	XM_005245519.1:c.1315-410_1315-403dup
DDX59 transcript variant X3	XM_005245520.1:c.1315-403=	XM_005245520.1:c.1315-404_1315-403del	XM_005245520.1:c.1315-403del	XM_005245520.1:c.1315-403dup	XM_005245520.1:c.1315-404_1315-403dup	XM_005245520.1:c.1315-405_1315-403dup	XM_005245520.1:c.1315-409_1315-403dup	XM_005245520.1:c.1315-410_1315-403dup
DDX59 transcript variant X5	XM_005245521.1:c.1063-403=	XM_005245521.1:c.1063-404_1063-403del	XM_005245521.1:c.1063-403del	XM_005245521.1:c.1063-403dup	XM_005245521.1:c.1063-404_1063-403dup	XM_005245521.1:c.1063-405_1063-403dup	XM_005245521.1:c.1063-409_1063-403dup	XM_005245521.1:c.1063-410_1063-403dup
DDX59 transcript variant X1	XM_017002432.3:c.1315-403=	XM_017002432.3:c.1315-404_1315-403del	XM_017002432.3:c.1315-403del	XM_017002432.3:c.1315-403dup	XM_017002432.3:c.1315-404_1315-403dup	XM_017002432.3:c.1315-405_1315-403dup	XM_017002432.3:c.1315-409_1315-403dup	XM_017002432.3:c.1315-410_1315-403dup
DDX59 transcript variant X2	XM_047431458.1:c.1315-403=	XM_047431458.1:c.1315-404_1315-403del	XM_047431458.1:c.1315-403del	XM_047431458.1:c.1315-403dup	XM_047431458.1:c.1315-404_1315-403dup	XM_047431458.1:c.1315-405_1315-403dup	XM_047431458.1:c.1315-409_1315-403dup	XM_047431458.1:c.1315-410_1315-403dup
DDX59 transcript variant X3	XM_047431459.1:c.1315-403=	XM_047431459.1:c.1315-404_1315-403del	XM_047431459.1:c.1315-403del	XM_047431459.1:c.1315-403dup	XM_047431459.1:c.1315-404_1315-403dup	XM_047431459.1:c.1315-405_1315-403dup	XM_047431459.1:c.1315-409_1315-403dup	XM_047431459.1:c.1315-410_1315-403dup
DDX59 transcript variant X4	XM_047431461.1:c.1315-403=	XM_047431461.1:c.1315-404_1315-403del	XM_047431461.1:c.1315-403del	XM_047431461.1:c.1315-403dup	XM_047431461.1:c.1315-404_1315-403dup	XM_047431461.1:c.1315-405_1315-403dup	XM_047431461.1:c.1315-409_1315-403dup	XM_047431461.1:c.1315-410_1315-403dup
DDX59 transcript variant X5	XM_047431466.1:c.1063-403=	XM_047431466.1:c.1063-404_1063-403del	XM_047431466.1:c.1063-403del	XM_047431466.1:c.1063-403dup	XM_047431466.1:c.1063-404_1063-403dup	XM_047431466.1:c.1063-405_1063-403dup	XM_047431466.1:c.1063-409_1063-403dup	XM_047431466.1:c.1063-410_1063-403dup
DDX59 transcript variant X6	XM_047431468.1:c.1063-403=	XM_047431468.1:c.1063-404_1063-403del	XM_047431468.1:c.1063-403del	XM_047431468.1:c.1063-403dup	XM_047431468.1:c.1063-404_1063-403dup	XM_047431468.1:c.1063-405_1063-403dup	XM_047431468.1:c.1063-409_1063-403dup	XM_047431468.1:c.1063-410_1063-403dup
DDX59 transcript variant X7	XM_047431471.1:c.1063-403=	XM_047431471.1:c.1063-404_1063-403del	XM_047431471.1:c.1063-403del	XM_047431471.1:c.1063-403dup	XM_047431471.1:c.1063-404_1063-403dup	XM_047431471.1:c.1063-405_1063-403dup	XM_047431471.1:c.1063-409_1063-403dup	XM_047431471.1:c.1063-410_1063-403dup
DDX59 transcript variant X8	XM_047431472.1:c.1063-403=	XM_047431472.1:c.1063-404_1063-403del	XM_047431472.1:c.1063-403del	XM_047431472.1:c.1063-403dup	XM_047431472.1:c.1063-404_1063-403dup	XM_047431472.1:c.1063-405_1063-403dup	XM_047431472.1:c.1063-409_1063-403dup	XM_047431472.1:c.1063-410_1063-403dup
DDX59 transcript variant X9	XM_047431475.1:c.1063-403=	XM_047431475.1:c.1063-404_1063-403del	XM_047431475.1:c.1063-403del	XM_047431475.1:c.1063-403dup	XM_047431475.1:c.1063-404_1063-403dup	XM_047431475.1:c.1063-405_1063-403dup	XM_047431475.1:c.1063-409_1063-403dup	XM_047431475.1:c.1063-410_1063-403dup
DDX59 transcript variant X10	XM_047431477.1:c.1173-403=	XM_047431477.1:c.1173-404_1173-403del	XM_047431477.1:c.1173-403del	XM_047431477.1:c.1173-403dup	XM_047431477.1:c.1173-404_1173-403dup	XM_047431477.1:c.1173-405_1173-403dup	XM_047431477.1:c.1173-409_1173-403dup	XM_047431477.1:c.1173-410_1173-403dup

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#.

39 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83101060	Dec 03, 2013 (142)
2	HUMANGENOME_JCVI	ss95251857	Dec 05, 2013 (142)
3	GMI	ss288078836	May 04, 2012 (137)
4	PJP	ss294619924	May 09, 2011 (135)
5	SYSTEMSBIOZJU	ss2624580524	Nov 08, 2017 (151)
6	SWEGEN	ss2988265301	Nov 08, 2017 (151)
7	SWEGEN	ss2988265302	Nov 08, 2017 (151)
8	URBANLAB	ss3646862226	Oct 11, 2018 (152)
9	EVA_DECODE	ss3688406822	Jul 12, 2019 (153)
10	EVA_DECODE	ss3688406823	Jul 12, 2019 (153)
11	EVA_DECODE	ss3688406824	Jul 12, 2019 (153)
12	EVA_DECODE	ss3688406825	Jul 12, 2019 (153)
13	EVA_DECODE	ss3688406826	Jul 12, 2019 (153)
14	PACBIO	ss3783657134	Jul 12, 2019 (153)
15	PACBIO	ss3789274250	Jul 12, 2019 (153)
16	PACBIO	ss3789274251	Jul 12, 2019 (153)
17	PACBIO	ss3794146447	Jul 12, 2019 (153)
18	EVA	ss3826586808	Apr 25, 2020 (154)
19	GNOMAD	ss4009322748	Apr 25, 2021 (155)
20	GNOMAD	ss4009322749	Apr 25, 2021 (155)
21	GNOMAD	ss4009322750	Apr 25, 2021 (155)
22	GNOMAD	ss4009322751	Apr 25, 2021 (155)
23	GNOMAD	ss4009322752	Apr 25, 2021 (155)
24	GNOMAD	ss4009322753	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5147924006	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5147924007	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5147924008	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5147924009	Apr 25, 2021 (155)
29	1000G_HIGH_COVERAGE	ss5245405557	Oct 12, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5245405558	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5445882426	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5445882427	Oct 12, 2022 (156)
33	TOMMO_GENOMICS	ss5675534150	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5675534152	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5675534153	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5675534154	Oct 12, 2022 (156)
37	EVA	ss5833105241	Oct 12, 2022 (156)
38	EVA	ss5833105242	Oct 12, 2022 (156)
39	EVA	ss5833105243	Oct 12, 2022 (156)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36364880 (NC_000001.11:200649628::A 101255/110880) Row 36364881 (NC_000001.11:200649628::AA 1793/110774) Row 36364882 (NC_000001.11:200649628::AAA 17/110772)...	-	Apr 25, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36364880 (NC_000001.11:200649628::A 101255/110880) Row 36364881 (NC_000001.11:200649628::AA 1793/110774) Row 36364882 (NC_000001.11:200649628::AAA 17/110772)...	-	Apr 25, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36364880 (NC_000001.11:200649628::A 101255/110880) Row 36364881 (NC_000001.11:200649628::AA 1793/110774) Row 36364882 (NC_000001.11:200649628::AAA 17/110772)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36364880 (NC_000001.11:200649628::A 101255/110880) Row 36364881 (NC_000001.11:200649628::AA 1793/110774) Row 36364882 (NC_000001.11:200649628::AAA 17/110772)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36364880 (NC_000001.11:200649628::A 101255/110880) Row 36364881 (NC_000001.11:200649628::AA 1793/110774) Row 36364882 (NC_000001.11:200649628::AAA 17/110772)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36364880 (NC_000001.11:200649628::A 101255/110880) Row 36364881 (NC_000001.11:200649628::AA 1793/110774) Row 36364882 (NC_000001.11:200649628::AAA 17/110772)...	-	Apr 25, 2021 (155)
46	8.3KJPN Submission ignored due to conflicting rows: Row 5893313 (NC_000001.10:200618756::A 13568/15728) Row 5893314 (NC_000001.10:200618756::AA 1925/15728) Row 5893315 (NC_000001.10:200618756::AAA 5/15728)...	-	Apr 25, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 5893313 (NC_000001.10:200618756::A 13568/15728) Row 5893314 (NC_000001.10:200618756::AA 1925/15728) Row 5893315 (NC_000001.10:200618756::AAA 5/15728)...	-	Apr 25, 2021 (155)
48	8.3KJPN Submission ignored due to conflicting rows: Row 5893313 (NC_000001.10:200618756::A 13568/15728) Row 5893314 (NC_000001.10:200618756::AA 1925/15728) Row 5893315 (NC_000001.10:200618756::AAA 5/15728)...	-	Apr 25, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 5893313 (NC_000001.10:200618756::A 13568/15728) Row 5893314 (NC_000001.10:200618756::AA 1925/15728) Row 5893315 (NC_000001.10:200618756::AAA 5/15728)...	-	Apr 25, 2021 (155)
50	14KJPN Submission ignored due to conflicting rows: Row 9371254 (NC_000001.11:200649628::A 23595/28026) Row 9371256 (NC_000001.11:200649628::AA 3514/28026) Row 9371257 (NC_000001.11:200649628::AAA 6/28026)...	-	Oct 12, 2022 (156)
51	14KJPN Submission ignored due to conflicting rows: Row 9371254 (NC_000001.11:200649628::A 23595/28026) Row 9371256 (NC_000001.11:200649628::AA 3514/28026) Row 9371257 (NC_000001.11:200649628::AAA 6/28026)...	-	Oct 12, 2022 (156)
52	14KJPN Submission ignored due to conflicting rows: Row 9371254 (NC_000001.11:200649628::A 23595/28026) Row 9371256 (NC_000001.11:200649628::AA 3514/28026) Row 9371257 (NC_000001.11:200649628::AAA 6/28026)...	-	Oct 12, 2022 (156)
53	14KJPN Submission ignored due to conflicting rows: Row 9371254 (NC_000001.11:200649628::A 23595/28026) Row 9371256 (NC_000001.11:200649628::AA 3514/28026) Row 9371257 (NC_000001.11:200649628::AAA 6/28026)...	-	Oct 12, 2022 (156)
54	ALFA	NC_000001.11 - 200649629	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs146091841	Sep 17, 2011 (135)
rs397782608	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4009322753	NC_000001.11:200649628:AA:	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8836426688	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3688406825, ss4009322752	NC_000001.11:200649628:A:	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
8836426688	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss288078836, ss294619924	NC_000001.9:198885394::A	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2624580524, ss2988265301, ss3783657134, ss3789274250, ss3794146447, ss5147924006, ss5833105241	NC_000001.10:200618756::A	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3646862226, ss4009322748, ss5445882426, ss5675534150	NC_000001.11:200649628::A	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
8836426688	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3688406824	NC_000001.11:200649629::A	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3688406826	NC_000001.11:200649634::A	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss83101060, ss95251857	NT_004487.19:52107413::A	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss2988265302, ss3789274251, ss3826586808, ss5147924007, ss5833105242	NC_000001.10:200618756::AA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4009322749, ss5245405557, ss5445882427, ss5675534152	NC_000001.11:200649628::AA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
8836426688	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3688406823	NC_000001.11:200649629::AA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5147924008, ss5833105243	NC_000001.10:200618756::AAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4009322750, ss5245405558, ss5675534153	NC_000001.11:200649628::AAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
8836426688	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3688406822	NC_000001.11:200649629::AAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5147924009	NC_000001.10:200618756::AAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009322751, ss5675534154	NC_000001.11:200649628::AAAAAAAA	NC_000001.11:200649628:AAAAAAAAAAA… NC_000001.11:200649628:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(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 rs60657099

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60657099