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dbSNP Short Genetic Variations

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.

rs10590500

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:200652668-200652687 (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(T)7 / del(T)6 / del(T)5 / del(…

del(T)7 / del(T)6 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4

Variation Type
Indel Insertion and Deletion
Frequency
(T)20=0.2039 (1021/5008, 1000G)
(T)20=0.4276 (2009/4698, 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 4698 TTTTTTTTTTTTTTTTTTTT=0.4276 TTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTT=0.0268, TTTTTTTTTTTTTTTTTT=0.4606, TTTTTTTTTTTTTTTTTTT=0.0530, TTTTTTTTTTTTTTTTTTTTT=0.0315, TTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.319274 0.303791 0.376935 32
European Sub 4520 TTTTTTTTTTTTTTTTTTTT=0.4062 TTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTT=0.0279, TTTTTTTTTTTTTTTTTT=0.4779, TTTTTTTTTTTTTTTTTTT=0.0549, TTTTTTTTTTTTTTTTTTTTT=0.0327, TTTTTTTTTTTTTTTTTTTTTTTT=0.0002, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000 0.286835 0.318207 0.394958 32
African Sub 134 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 2 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
African American Sub 132 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 2 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 4 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 20 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 4 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Sub 14 TTTTTTTTTTTTTTTTTTTT=0.64 TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.29, TTTTTTTTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 0.666667 0.166667 0.166667 1


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
1000Genomes Global Study-wide 5008 (T)20=0.2039 delTT=0.7961
1000Genomes African Sub 1322 (T)20=0.2874 delTT=0.7126
1000Genomes East Asian Sub 1008 (T)20=0.1280 delTT=0.8720
1000Genomes Europe Sub 1006 (T)20=0.1491 delTT=0.8509
1000Genomes South Asian Sub 978 (T)20=0.225 delTT=0.775
1000Genomes American Sub 694 (T)20=0.205 delTT=0.795
Allele Frequency Aggregator Total Global 4698 (T)20=0.4276 del(T)4=0.0002, delTTT=0.0268, delTT=0.4606, delT=0.0530, dupT=0.0315, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0002
Allele Frequency Aggregator European Sub 4520 (T)20=0.4062 del(T)4=0.0002, delTTT=0.0279, delTT=0.4779, delT=0.0549, dupT=0.0327, dupTT=0.0000, dupTTT=0.0000, dup(T)4=0.0002
Allele Frequency Aggregator African Sub 134 (T)20=1.000 del(T)4=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)4=0.000
Allele Frequency Aggregator Latin American 2 Sub 20 (T)20=1.00 del(T)4=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator Other Sub 14 (T)20=0.64 del(T)4=0.00, delTTT=0.00, delTT=0.29, delT=0.07, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)4=0.00
Allele Frequency Aggregator Latin American 1 Sub 4 (T)20=1.0 del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
Allele Frequency Aggregator South Asian Sub 4 (T)20=1.0 del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
Allele Frequency Aggregator Asian Sub 2 (T)20=1.0 del(T)4=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)4=0.0
Help

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.200652681_200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652682_200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652683_200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652684_200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652685_200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652686_200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652687del
GRCh38.p14 chr 1 NC_000001.11:g.200652687dup
GRCh38.p14 chr 1 NC_000001.11:g.200652686_200652687dup
GRCh38.p14 chr 1 NC_000001.11:g.200652685_200652687dup
GRCh38.p14 chr 1 NC_000001.11:g.200652684_200652687dup
GRCh37.p13 chr 1 NC_000001.10:g.200621809_200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621810_200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621811_200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621812_200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621813_200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621814_200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621815del
GRCh37.p13 chr 1 NC_000001.10:g.200621815dup
GRCh37.p13 chr 1 NC_000001.10:g.200621814_200621815dup
GRCh37.p13 chr 1 NC_000001.10:g.200621813_200621815dup
GRCh37.p13 chr 1 NC_000001.10:g.200621812_200621815dup
DDX59 RefSeqGene NG_053192.1:g.22325_22331del
DDX59 RefSeqGene NG_053192.1:g.22326_22331del
DDX59 RefSeqGene NG_053192.1:g.22327_22331del
DDX59 RefSeqGene NG_053192.1:g.22328_22331del
DDX59 RefSeqGene NG_053192.1:g.22329_22331del
DDX59 RefSeqGene NG_053192.1:g.22330_22331del
DDX59 RefSeqGene NG_053192.1:g.22331del
DDX59 RefSeqGene NG_053192.1:g.22331dup
DDX59 RefSeqGene NG_053192.1:g.22330_22331dup
DDX59 RefSeqGene NG_053192.1:g.22329_22331dup
DDX59 RefSeqGene NG_053192.1:g.22328_22331dup
Gene: DDX59, DEAD-box helicase 59 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
DDX59 transcript variant 1 NM_001031725.6:c.1063-199…

NM_001031725.6:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant 2 NM_001320181.2:c.1063-199…

NM_001320181.2:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant 3 NM_001320182.1:c.973-3448…

NM_001320182.1:c.973-3448_973-3442del

N/A Intron Variant
DDX59 transcript variant 4 NM_001349799.3:c.1063-199…

NM_001349799.3:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant 5 NM_001349800.3:c.1063-199…

NM_001349800.3:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant 6 NM_001349801.3:c.1063-199…

NM_001349801.3:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant 7 NM_001349802.3:c.1063-199…

NM_001349802.3:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant 8 NM_001349803.3:c.1063-344…

NM_001349803.3:c.1063-3448_1063-3442del

N/A Intron Variant
DDX59 transcript variant 9 NM_001349804.2:c.1062+635…

NM_001349804.2:c.1062+6353_1062+6359del

N/A Intron Variant
DDX59 transcript variant X1 XM_017002432.3:c.1063-199…

XM_017002432.3:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant X2 XM_047431458.1:c.1063-199…

XM_047431458.1:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant X3 XM_047431459.1:c.1063-199…

XM_047431459.1:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant X4 XM_047431461.1:c.1063-199…

XM_047431461.1:c.1063-1998_1063-1992del

N/A Intron Variant
DDX59 transcript variant X5 XM_047431466.1:c.1063-344…

XM_047431466.1:c.1063-3448_1063-3442del

N/A Intron Variant
DDX59 transcript variant X6 XM_047431468.1:c.1063-344…

XM_047431468.1:c.1063-3448_1063-3442del

N/A Intron Variant
DDX59 transcript variant X7 XM_047431471.1:c.1063-344…

XM_047431471.1:c.1063-3448_1063-3442del

N/A Intron Variant
DDX59 transcript variant X8 XM_047431472.1:c.1063-344…

XM_047431472.1:c.1063-3448_1063-3442del

N/A Intron Variant
DDX59 transcript variant X9 XM_047431475.1:c.1063-344…

XM_047431475.1:c.1063-3448_1063-3442del

N/A Intron Variant
DDX59 transcript variant X10 XM_047431477.1:c.1172+176…

XM_047431477.1:c.1172+1767_1172+1773del

N/A Intron Variant
DDX59 transcript variant X11 XM_047431480.1:c.1172+176…

XM_047431480.1:c.1172+1767_1172+1773del

N/A Intron Variant
Help

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
Help

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 (T)20= del(T)7 del(T)6 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4
GRCh38.p14 chr 1 NC_000001.11:g.200652668_200652687= NC_000001.11:g.200652681_200652687del NC_000001.11:g.200652682_200652687del NC_000001.11:g.200652683_200652687del NC_000001.11:g.200652684_200652687del NC_000001.11:g.200652685_200652687del NC_000001.11:g.200652686_200652687del NC_000001.11:g.200652687del NC_000001.11:g.200652687dup NC_000001.11:g.200652686_200652687dup NC_000001.11:g.200652685_200652687dup NC_000001.11:g.200652684_200652687dup
GRCh37.p13 chr 1 NC_000001.10:g.200621796_200621815= NC_000001.10:g.200621809_200621815del NC_000001.10:g.200621810_200621815del NC_000001.10:g.200621811_200621815del NC_000001.10:g.200621812_200621815del NC_000001.10:g.200621813_200621815del NC_000001.10:g.200621814_200621815del NC_000001.10:g.200621815del NC_000001.10:g.200621815dup NC_000001.10:g.200621814_200621815dup NC_000001.10:g.200621813_200621815dup NC_000001.10:g.200621812_200621815dup
DDX59 RefSeqGene NG_053192.1:g.22312_22331= NG_053192.1:g.22325_22331del NG_053192.1:g.22326_22331del NG_053192.1:g.22327_22331del NG_053192.1:g.22328_22331del NG_053192.1:g.22329_22331del NG_053192.1:g.22330_22331del NG_053192.1:g.22331del NG_053192.1:g.22331dup NG_053192.1:g.22330_22331dup NG_053192.1:g.22329_22331dup NG_053192.1:g.22328_22331dup
DDX59 transcript NM_001031725.4:c.1063-1992= NM_001031725.4:c.1063-1998_1063-1992del NM_001031725.4:c.1063-1997_1063-1992del NM_001031725.4:c.1063-1996_1063-1992del NM_001031725.4:c.1063-1995_1063-1992del NM_001031725.4:c.1063-1994_1063-1992del NM_001031725.4:c.1063-1993_1063-1992del NM_001031725.4:c.1063-1992del NM_001031725.4:c.1063-1992dup NM_001031725.4:c.1063-1993_1063-1992dup NM_001031725.4:c.1063-1994_1063-1992dup NM_001031725.4:c.1063-1995_1063-1992dup
DDX59 transcript variant 1 NM_001031725.6:c.1063-1992= NM_001031725.6:c.1063-1998_1063-1992del NM_001031725.6:c.1063-1997_1063-1992del NM_001031725.6:c.1063-1996_1063-1992del NM_001031725.6:c.1063-1995_1063-1992del NM_001031725.6:c.1063-1994_1063-1992del NM_001031725.6:c.1063-1993_1063-1992del NM_001031725.6:c.1063-1992del NM_001031725.6:c.1063-1992dup NM_001031725.6:c.1063-1993_1063-1992dup NM_001031725.6:c.1063-1994_1063-1992dup NM_001031725.6:c.1063-1995_1063-1992dup
DDX59 transcript variant 2 NM_001320181.2:c.1063-1992= NM_001320181.2:c.1063-1998_1063-1992del NM_001320181.2:c.1063-1997_1063-1992del NM_001320181.2:c.1063-1996_1063-1992del NM_001320181.2:c.1063-1995_1063-1992del NM_001320181.2:c.1063-1994_1063-1992del NM_001320181.2:c.1063-1993_1063-1992del NM_001320181.2:c.1063-1992del NM_001320181.2:c.1063-1992dup NM_001320181.2:c.1063-1993_1063-1992dup NM_001320181.2:c.1063-1994_1063-1992dup NM_001320181.2:c.1063-1995_1063-1992dup
DDX59 transcript variant 3 NM_001320182.1:c.973-3442= NM_001320182.1:c.973-3448_973-3442del NM_001320182.1:c.973-3447_973-3442del NM_001320182.1:c.973-3446_973-3442del NM_001320182.1:c.973-3445_973-3442del NM_001320182.1:c.973-3444_973-3442del NM_001320182.1:c.973-3443_973-3442del NM_001320182.1:c.973-3442del NM_001320182.1:c.973-3442dup NM_001320182.1:c.973-3443_973-3442dup NM_001320182.1:c.973-3444_973-3442dup NM_001320182.1:c.973-3445_973-3442dup
DDX59 transcript variant 4 NM_001349799.3:c.1063-1992= NM_001349799.3:c.1063-1998_1063-1992del NM_001349799.3:c.1063-1997_1063-1992del NM_001349799.3:c.1063-1996_1063-1992del NM_001349799.3:c.1063-1995_1063-1992del NM_001349799.3:c.1063-1994_1063-1992del NM_001349799.3:c.1063-1993_1063-1992del NM_001349799.3:c.1063-1992del NM_001349799.3:c.1063-1992dup NM_001349799.3:c.1063-1993_1063-1992dup NM_001349799.3:c.1063-1994_1063-1992dup NM_001349799.3:c.1063-1995_1063-1992dup
DDX59 transcript variant 5 NM_001349800.3:c.1063-1992= NM_001349800.3:c.1063-1998_1063-1992del NM_001349800.3:c.1063-1997_1063-1992del NM_001349800.3:c.1063-1996_1063-1992del NM_001349800.3:c.1063-1995_1063-1992del NM_001349800.3:c.1063-1994_1063-1992del NM_001349800.3:c.1063-1993_1063-1992del NM_001349800.3:c.1063-1992del NM_001349800.3:c.1063-1992dup NM_001349800.3:c.1063-1993_1063-1992dup NM_001349800.3:c.1063-1994_1063-1992dup NM_001349800.3:c.1063-1995_1063-1992dup
DDX59 transcript variant 6 NM_001349801.3:c.1063-1992= NM_001349801.3:c.1063-1998_1063-1992del NM_001349801.3:c.1063-1997_1063-1992del NM_001349801.3:c.1063-1996_1063-1992del NM_001349801.3:c.1063-1995_1063-1992del NM_001349801.3:c.1063-1994_1063-1992del NM_001349801.3:c.1063-1993_1063-1992del NM_001349801.3:c.1063-1992del NM_001349801.3:c.1063-1992dup NM_001349801.3:c.1063-1993_1063-1992dup NM_001349801.3:c.1063-1994_1063-1992dup NM_001349801.3:c.1063-1995_1063-1992dup
DDX59 transcript variant 7 NM_001349802.3:c.1063-1992= NM_001349802.3:c.1063-1998_1063-1992del NM_001349802.3:c.1063-1997_1063-1992del NM_001349802.3:c.1063-1996_1063-1992del NM_001349802.3:c.1063-1995_1063-1992del NM_001349802.3:c.1063-1994_1063-1992del NM_001349802.3:c.1063-1993_1063-1992del NM_001349802.3:c.1063-1992del NM_001349802.3:c.1063-1992dup NM_001349802.3:c.1063-1993_1063-1992dup NM_001349802.3:c.1063-1994_1063-1992dup NM_001349802.3:c.1063-1995_1063-1992dup
DDX59 transcript variant 8 NM_001349803.3:c.1063-3442= NM_001349803.3:c.1063-3448_1063-3442del NM_001349803.3:c.1063-3447_1063-3442del NM_001349803.3:c.1063-3446_1063-3442del NM_001349803.3:c.1063-3445_1063-3442del NM_001349803.3:c.1063-3444_1063-3442del NM_001349803.3:c.1063-3443_1063-3442del NM_001349803.3:c.1063-3442del NM_001349803.3:c.1063-3442dup NM_001349803.3:c.1063-3443_1063-3442dup NM_001349803.3:c.1063-3444_1063-3442dup NM_001349803.3:c.1063-3445_1063-3442dup
DDX59 transcript variant 9 NM_001349804.2:c.1062+6359= NM_001349804.2:c.1062+6353_1062+6359del NM_001349804.2:c.1062+6354_1062+6359del NM_001349804.2:c.1062+6355_1062+6359del NM_001349804.2:c.1062+6356_1062+6359del NM_001349804.2:c.1062+6357_1062+6359del NM_001349804.2:c.1062+6358_1062+6359del NM_001349804.2:c.1062+6359del NM_001349804.2:c.1062+6359dup NM_001349804.2:c.1062+6358_1062+6359dup NM_001349804.2:c.1062+6357_1062+6359dup NM_001349804.2:c.1062+6356_1062+6359dup
DDX59 transcript variant X4 XM_005245519.1:c.1063-1992= XM_005245519.1:c.1063-1998_1063-1992del XM_005245519.1:c.1063-1997_1063-1992del XM_005245519.1:c.1063-1996_1063-1992del XM_005245519.1:c.1063-1995_1063-1992del XM_005245519.1:c.1063-1994_1063-1992del XM_005245519.1:c.1063-1993_1063-1992del XM_005245519.1:c.1063-1992del XM_005245519.1:c.1063-1992dup XM_005245519.1:c.1063-1993_1063-1992dup XM_005245519.1:c.1063-1994_1063-1992dup XM_005245519.1:c.1063-1995_1063-1992dup
DDX59 transcript variant X3 XM_005245520.1:c.1063-1992= XM_005245520.1:c.1063-1998_1063-1992del XM_005245520.1:c.1063-1997_1063-1992del XM_005245520.1:c.1063-1996_1063-1992del XM_005245520.1:c.1063-1995_1063-1992del XM_005245520.1:c.1063-1994_1063-1992del XM_005245520.1:c.1063-1993_1063-1992del XM_005245520.1:c.1063-1992del XM_005245520.1:c.1063-1992dup XM_005245520.1:c.1063-1993_1063-1992dup XM_005245520.1:c.1063-1994_1063-1992dup XM_005245520.1:c.1063-1995_1063-1992dup
DDX59 transcript variant X5 XM_005245521.1:c.1063-3442= XM_005245521.1:c.1063-3448_1063-3442del XM_005245521.1:c.1063-3447_1063-3442del XM_005245521.1:c.1063-3446_1063-3442del XM_005245521.1:c.1063-3445_1063-3442del XM_005245521.1:c.1063-3444_1063-3442del XM_005245521.1:c.1063-3443_1063-3442del XM_005245521.1:c.1063-3442del XM_005245521.1:c.1063-3442dup XM_005245521.1:c.1063-3443_1063-3442dup XM_005245521.1:c.1063-3444_1063-3442dup XM_005245521.1:c.1063-3445_1063-3442dup
DDX59 transcript variant X1 XM_017002432.3:c.1063-1992= XM_017002432.3:c.1063-1998_1063-1992del XM_017002432.3:c.1063-1997_1063-1992del XM_017002432.3:c.1063-1996_1063-1992del XM_017002432.3:c.1063-1995_1063-1992del XM_017002432.3:c.1063-1994_1063-1992del XM_017002432.3:c.1063-1993_1063-1992del XM_017002432.3:c.1063-1992del XM_017002432.3:c.1063-1992dup XM_017002432.3:c.1063-1993_1063-1992dup XM_017002432.3:c.1063-1994_1063-1992dup XM_017002432.3:c.1063-1995_1063-1992dup
DDX59 transcript variant X2 XM_047431458.1:c.1063-1992= XM_047431458.1:c.1063-1998_1063-1992del XM_047431458.1:c.1063-1997_1063-1992del XM_047431458.1:c.1063-1996_1063-1992del XM_047431458.1:c.1063-1995_1063-1992del XM_047431458.1:c.1063-1994_1063-1992del XM_047431458.1:c.1063-1993_1063-1992del XM_047431458.1:c.1063-1992del XM_047431458.1:c.1063-1992dup XM_047431458.1:c.1063-1993_1063-1992dup XM_047431458.1:c.1063-1994_1063-1992dup XM_047431458.1:c.1063-1995_1063-1992dup
DDX59 transcript variant X3 XM_047431459.1:c.1063-1992= XM_047431459.1:c.1063-1998_1063-1992del XM_047431459.1:c.1063-1997_1063-1992del XM_047431459.1:c.1063-1996_1063-1992del XM_047431459.1:c.1063-1995_1063-1992del XM_047431459.1:c.1063-1994_1063-1992del XM_047431459.1:c.1063-1993_1063-1992del XM_047431459.1:c.1063-1992del XM_047431459.1:c.1063-1992dup XM_047431459.1:c.1063-1993_1063-1992dup XM_047431459.1:c.1063-1994_1063-1992dup XM_047431459.1:c.1063-1995_1063-1992dup
DDX59 transcript variant X4 XM_047431461.1:c.1063-1992= XM_047431461.1:c.1063-1998_1063-1992del XM_047431461.1:c.1063-1997_1063-1992del XM_047431461.1:c.1063-1996_1063-1992del XM_047431461.1:c.1063-1995_1063-1992del XM_047431461.1:c.1063-1994_1063-1992del XM_047431461.1:c.1063-1993_1063-1992del XM_047431461.1:c.1063-1992del XM_047431461.1:c.1063-1992dup XM_047431461.1:c.1063-1993_1063-1992dup XM_047431461.1:c.1063-1994_1063-1992dup XM_047431461.1:c.1063-1995_1063-1992dup
DDX59 transcript variant X5 XM_047431466.1:c.1063-3442= XM_047431466.1:c.1063-3448_1063-3442del XM_047431466.1:c.1063-3447_1063-3442del XM_047431466.1:c.1063-3446_1063-3442del XM_047431466.1:c.1063-3445_1063-3442del XM_047431466.1:c.1063-3444_1063-3442del XM_047431466.1:c.1063-3443_1063-3442del XM_047431466.1:c.1063-3442del XM_047431466.1:c.1063-3442dup XM_047431466.1:c.1063-3443_1063-3442dup XM_047431466.1:c.1063-3444_1063-3442dup XM_047431466.1:c.1063-3445_1063-3442dup
DDX59 transcript variant X6 XM_047431468.1:c.1063-3442= XM_047431468.1:c.1063-3448_1063-3442del XM_047431468.1:c.1063-3447_1063-3442del XM_047431468.1:c.1063-3446_1063-3442del XM_047431468.1:c.1063-3445_1063-3442del XM_047431468.1:c.1063-3444_1063-3442del XM_047431468.1:c.1063-3443_1063-3442del XM_047431468.1:c.1063-3442del XM_047431468.1:c.1063-3442dup XM_047431468.1:c.1063-3443_1063-3442dup XM_047431468.1:c.1063-3444_1063-3442dup XM_047431468.1:c.1063-3445_1063-3442dup
DDX59 transcript variant X7 XM_047431471.1:c.1063-3442= XM_047431471.1:c.1063-3448_1063-3442del XM_047431471.1:c.1063-3447_1063-3442del XM_047431471.1:c.1063-3446_1063-3442del XM_047431471.1:c.1063-3445_1063-3442del XM_047431471.1:c.1063-3444_1063-3442del XM_047431471.1:c.1063-3443_1063-3442del XM_047431471.1:c.1063-3442del XM_047431471.1:c.1063-3442dup XM_047431471.1:c.1063-3443_1063-3442dup XM_047431471.1:c.1063-3444_1063-3442dup XM_047431471.1:c.1063-3445_1063-3442dup
DDX59 transcript variant X8 XM_047431472.1:c.1063-3442= XM_047431472.1:c.1063-3448_1063-3442del XM_047431472.1:c.1063-3447_1063-3442del XM_047431472.1:c.1063-3446_1063-3442del XM_047431472.1:c.1063-3445_1063-3442del XM_047431472.1:c.1063-3444_1063-3442del XM_047431472.1:c.1063-3443_1063-3442del XM_047431472.1:c.1063-3442del XM_047431472.1:c.1063-3442dup XM_047431472.1:c.1063-3443_1063-3442dup XM_047431472.1:c.1063-3444_1063-3442dup XM_047431472.1:c.1063-3445_1063-3442dup
DDX59 transcript variant X9 XM_047431475.1:c.1063-3442= XM_047431475.1:c.1063-3448_1063-3442del XM_047431475.1:c.1063-3447_1063-3442del XM_047431475.1:c.1063-3446_1063-3442del XM_047431475.1:c.1063-3445_1063-3442del XM_047431475.1:c.1063-3444_1063-3442del XM_047431475.1:c.1063-3443_1063-3442del XM_047431475.1:c.1063-3442del XM_047431475.1:c.1063-3442dup XM_047431475.1:c.1063-3443_1063-3442dup XM_047431475.1:c.1063-3444_1063-3442dup XM_047431475.1:c.1063-3445_1063-3442dup
DDX59 transcript variant X10 XM_047431477.1:c.1172+1773= XM_047431477.1:c.1172+1767_1172+1773del XM_047431477.1:c.1172+1768_1172+1773del XM_047431477.1:c.1172+1769_1172+1773del XM_047431477.1:c.1172+1770_1172+1773del XM_047431477.1:c.1172+1771_1172+1773del XM_047431477.1:c.1172+1772_1172+1773del XM_047431477.1:c.1172+1773del XM_047431477.1:c.1172+1773dup XM_047431477.1:c.1172+1772_1172+1773dup XM_047431477.1:c.1172+1771_1172+1773dup XM_047431477.1:c.1172+1770_1172+1773dup
DDX59 transcript variant X11 XM_047431480.1:c.1172+1773= XM_047431480.1:c.1172+1767_1172+1773del XM_047431480.1:c.1172+1768_1172+1773del XM_047431480.1:c.1172+1769_1172+1773del XM_047431480.1:c.1172+1770_1172+1773del XM_047431480.1:c.1172+1771_1172+1773del XM_047431480.1:c.1172+1772_1172+1773del XM_047431480.1:c.1172+1773del XM_047431480.1:c.1172+1773dup XM_047431480.1:c.1172+1772_1172+1773dup XM_047431480.1:c.1172+1771_1172+1773dup XM_047431480.1:c.1172+1770_1172+1773dup
Help

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#.

66 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41191515 Mar 15, 2016 (147)
2 ABI ss41236612 Mar 15, 2016 (147)
3 HGSV ss80858937 Dec 15, 2007 (137)
4 HUMANGENOME_JCVI ss95251859 Dec 05, 2013 (138)
5 BCMHGSC_JDW ss103496347 Mar 15, 2016 (147)
6 GMI ss288078838 May 04, 2012 (137)
7 PJP ss294619926 May 09, 2011 (134)
8 PJP ss294619927 May 09, 2011 (137)
9 BILGI_BIOE ss666123049 Apr 25, 2013 (138)
10 1000GENOMES ss1367959316 Aug 21, 2014 (142)
11 EVA_UK10K_ALSPAC ss1701640819 Apr 01, 2015 (144)
12 EVA_UK10K_TWINSUK ss1701641035 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1709965993 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1709965994 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1709965995 Apr 01, 2015 (144)
16 EVA_UK10K_ALSPAC ss1709965996 Apr 01, 2015 (144)
17 SYSTEMSBIOZJU ss2624580531 Nov 08, 2017 (151)
18 SWEGEN ss2988265339 Nov 08, 2017 (151)
19 MCHAISSO ss3064438716 Nov 08, 2017 (151)
20 URBANLAB ss3646862233 Oct 11, 2018 (152)
21 EVA_DECODE ss3688406870 Jul 12, 2019 (153)
22 EVA_DECODE ss3688406871 Jul 12, 2019 (153)
23 EVA_DECODE ss3688406872 Jul 12, 2019 (153)
24 EVA_DECODE ss3688406873 Jul 12, 2019 (153)
25 EVA_DECODE ss3688406874 Jul 12, 2019 (153)
26 EVA_DECODE ss3688406875 Jul 12, 2019 (153)
27 PACBIO ss3783657141 Jul 12, 2019 (153)
28 PACBIO ss3789274258 Jul 12, 2019 (153)
29 PACBIO ss3794146454 Jul 12, 2019 (153)
30 KHV_HUMAN_GENOMES ss3800203929 Jul 12, 2019 (153)
31 EVA ss3826586818 Apr 25, 2020 (154)
32 GNOMAD ss4009323140 Apr 25, 2021 (155)
33 GNOMAD ss4009323141 Apr 25, 2021 (155)
34 GNOMAD ss4009323142 Apr 25, 2021 (155)
35 GNOMAD ss4009323144 Apr 25, 2021 (155)
36 GNOMAD ss4009323145 Apr 25, 2021 (155)
37 GNOMAD ss4009323146 Apr 25, 2021 (155)
38 GNOMAD ss4009323147 Apr 25, 2021 (155)
39 GNOMAD ss4009323148 Apr 25, 2021 (155)
40 GNOMAD ss4009323149 Apr 25, 2021 (155)
41 GNOMAD ss4009323150 Apr 25, 2021 (155)
42 TOMMO_GENOMICS ss5147924108 Apr 25, 2021 (155)
43 TOMMO_GENOMICS ss5147924109 Apr 25, 2021 (155)
44 TOMMO_GENOMICS ss5147924110 Apr 25, 2021 (155)
45 TOMMO_GENOMICS ss5147924111 Apr 25, 2021 (155)
46 TOMMO_GENOMICS ss5147924112 Apr 25, 2021 (155)
47 TOMMO_GENOMICS ss5147924113 Apr 25, 2021 (155)
48 1000G_HIGH_COVERAGE ss5245405627 Oct 12, 2022 (156)
49 1000G_HIGH_COVERAGE ss5245405628 Oct 12, 2022 (156)
50 1000G_HIGH_COVERAGE ss5245405629 Oct 12, 2022 (156)
51 1000G_HIGH_COVERAGE ss5245405630 Oct 12, 2022 (156)
52 HUGCELL_USP ss5445882495 Oct 12, 2022 (156)
53 HUGCELL_USP ss5445882496 Oct 12, 2022 (156)
54 HUGCELL_USP ss5445882497 Oct 12, 2022 (156)
55 HUGCELL_USP ss5445882498 Oct 12, 2022 (156)
56 TOMMO_GENOMICS ss5675534284 Oct 12, 2022 (156)
57 TOMMO_GENOMICS ss5675534285 Oct 12, 2022 (156)
58 TOMMO_GENOMICS ss5675534286 Oct 12, 2022 (156)
59 TOMMO_GENOMICS ss5675534287 Oct 12, 2022 (156)
60 TOMMO_GENOMICS ss5675534288 Oct 12, 2022 (156)
61 TOMMO_GENOMICS ss5675534289 Oct 12, 2022 (156)
62 EVA ss5833105266 Oct 12, 2022 (156)
63 EVA ss5833105267 Oct 12, 2022 (156)
64 EVA ss5833105268 Oct 12, 2022 (156)
65 EVA ss5849236692 Oct 12, 2022 (156)
66 EVA ss5911523377 Oct 12, 2022 (156)
67 1000Genomes NC_000001.10 - 200621796 Oct 11, 2018 (152)
68 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2773260 (NC_000001.10:200621796:TT: 1311/3854)
Row 2773261 (NC_000001.10:200621795:TTTT: 222/3854)

- Oct 11, 2018 (152)
69 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 2773260 (NC_000001.10:200621796:TT: 1311/3854)
Row 2773261 (NC_000001.10:200621795:TTTT: 222/3854)

- Oct 11, 2018 (152)
70 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
71 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
72 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
73 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
74 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
75 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
76 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
77 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
78 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
79 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 36365493 (NC_000001.11:200652667::T 7916/107614)
Row 36365494 (NC_000001.11:200652667::TT 46/107672)
Row 36365495 (NC_000001.11:200652667::TTT 3/107674)...

- Apr 25, 2021 (155)
80 8.3KJPN

Submission ignored due to conflicting rows:
Row 5893415 (NC_000001.10:200621795:TT: 7745/16670)
Row 5893416 (NC_000001.10:200621795:T: 5168/16670)
Row 5893417 (NC_000001.10:200621795:TTT: 26/16670)...

- Apr 25, 2021 (155)
81 8.3KJPN

Submission ignored due to conflicting rows:
Row 5893415 (NC_000001.10:200621795:TT: 7745/16670)
Row 5893416 (NC_000001.10:200621795:T: 5168/16670)
Row 5893417 (NC_000001.10:200621795:TTT: 26/16670)...

- Apr 25, 2021 (155)
82 8.3KJPN

Submission ignored due to conflicting rows:
Row 5893415 (NC_000001.10:200621795:TT: 7745/16670)
Row 5893416 (NC_000001.10:200621795:T: 5168/16670)
Row 5893417 (NC_000001.10:200621795:TTT: 26/16670)...

- Apr 25, 2021 (155)
83 8.3KJPN

Submission ignored due to conflicting rows:
Row 5893415 (NC_000001.10:200621795:TT: 7745/16670)
Row 5893416 (NC_000001.10:200621795:T: 5168/16670)
Row 5893417 (NC_000001.10:200621795:TTT: 26/16670)...

- Apr 25, 2021 (155)
84 8.3KJPN

Submission ignored due to conflicting rows:
Row 5893415 (NC_000001.10:200621795:TT: 7745/16670)
Row 5893416 (NC_000001.10:200621795:T: 5168/16670)
Row 5893417 (NC_000001.10:200621795:TTT: 26/16670)...

- Apr 25, 2021 (155)
85 8.3KJPN

Submission ignored due to conflicting rows:
Row 5893415 (NC_000001.10:200621795:TT: 7745/16670)
Row 5893416 (NC_000001.10:200621795:T: 5168/16670)
Row 5893417 (NC_000001.10:200621795:TTT: 26/16670)...

- Apr 25, 2021 (155)
86 14KJPN

Submission ignored due to conflicting rows:
Row 9371388 (NC_000001.11:200652667:TT: 13212/28242)
Row 9371389 (NC_000001.11:200652667:T: 8855/28242)
Row 9371390 (NC_000001.11:200652667:TTT: 28/28242)...

- Oct 12, 2022 (156)
87 14KJPN

Submission ignored due to conflicting rows:
Row 9371388 (NC_000001.11:200652667:TT: 13212/28242)
Row 9371389 (NC_000001.11:200652667:T: 8855/28242)
Row 9371390 (NC_000001.11:200652667:TTT: 28/28242)...

- Oct 12, 2022 (156)
88 14KJPN

Submission ignored due to conflicting rows:
Row 9371388 (NC_000001.11:200652667:TT: 13212/28242)
Row 9371389 (NC_000001.11:200652667:T: 8855/28242)
Row 9371390 (NC_000001.11:200652667:TTT: 28/28242)...

- Oct 12, 2022 (156)
89 14KJPN

Submission ignored due to conflicting rows:
Row 9371388 (NC_000001.11:200652667:TT: 13212/28242)
Row 9371389 (NC_000001.11:200652667:T: 8855/28242)
Row 9371390 (NC_000001.11:200652667:TTT: 28/28242)...

- Oct 12, 2022 (156)
90 14KJPN

Submission ignored due to conflicting rows:
Row 9371388 (NC_000001.11:200652667:TT: 13212/28242)
Row 9371389 (NC_000001.11:200652667:T: 8855/28242)
Row 9371390 (NC_000001.11:200652667:TTT: 28/28242)...

- Oct 12, 2022 (156)
91 14KJPN

Submission ignored due to conflicting rows:
Row 9371388 (NC_000001.11:200652667:TT: 13212/28242)
Row 9371389 (NC_000001.11:200652667:T: 8855/28242)
Row 9371390 (NC_000001.11:200652667:TTT: 28/28242)...

- Oct 12, 2022 (156)
92 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2773259 (NC_000001.10:200621797:TT: 2291/3708)
Row 2773260 (NC_000001.10:200621796:TTT: 1221/3708)
Row 2773261 (NC_000001.10:200621795:TTTT: 196/3708)

- Apr 25, 2020 (154)
93 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2773260 (NC_000001.10:200621796:TT: 1221/3708)
Row 2773261 (NC_000001.10:200621795:TTTT: 196/3708)

- Oct 11, 2018 (152)
94 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 2773260 (NC_000001.10:200621796:TT: 1221/3708)
Row 2773261 (NC_000001.10:200621795:TTTT: 196/3708)

- Oct 11, 2018 (152)
95 ALFA NC_000001.11 - 200652668 Apr 25, 2021 (155)
Help

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)
rs34098716 May 11, 2012 (137)
rs35439599 May 11, 2012 (137)
rs35740491 May 11, 2012 (137)
rs59726552 May 11, 2012 (137)
rs151301503 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4009323150 NC_000001.11:200652667:TTTTTTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT

(self)
ss4009323149 NC_000001.11:200652667:TTTTTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss3688406870, ss4009323148 NC_000001.11:200652667:TTTTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss1701640819, ss1701641035, ss5147924112, ss5833105268 NC_000001.10:200621795:TTTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4009323147, ss5675534287 NC_000001.11:200652667:TTTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3688406871 NC_000001.11:200652668:TTTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss2988265339, ss5147924110, ss5833105267 NC_000001.10:200621795:TTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss1709965995, ss1709965996 NC_000001.10:200621796:TTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss4009323146, ss5245405629, ss5445882496, ss5675534286 NC_000001.11:200652667:TTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3688406872 NC_000001.11:200652669:TTT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss80858937 NC_000001.8:197353470:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss288078838, ss294619926 NC_000001.9:198888418:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss294619927 NC_000001.9:198888436:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
5041971, ss666123049, ss1367959316, ss3783657141, ss3789274258, ss3794146454, ss3826586818, ss5147924108, ss5833105266 NC_000001.10:200621795:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
NC_000001.10:200621796:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss1709965993, ss1709965994 NC_000001.10:200621797:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3064438716, ss3646862233, ss3800203929, ss4009323145, ss5245405627, ss5445882495, ss5675534284, ss5849236692 NC_000001.11:200652667:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3688406873 NC_000001.11:200652670:TT: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss2624580531, ss5147924109 NC_000001.10:200621795:T: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4009323144, ss5245405628, ss5445882497, ss5675534285, ss5911523377 NC_000001.11:200652667:T: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3688406874 NC_000001.11:200652671:T: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss41191515 NT_004487.19:52110437:T: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss41236612 NT_004487.19:52110438:T: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss95251859, ss103496347 NT_004487.19:52110456:T: NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss5147924111 NC_000001.10:200621795::T NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4009323140, ss5245405630, ss5445882498, ss5675534288 NC_000001.11:200652667::T NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3688406875 NC_000001.11:200652672::T NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss95251859 NT_004487.19:52110456:T:TT NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5147924113 NC_000001.10:200621795::TT NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4009323141, ss5675534289 NC_000001.11:200652667::TT NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss103496347 NT_004487.19:52110456:T:TTT NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4009323142 NC_000001.11:200652667::TTT NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
2176518809 NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

NC_000001.11:200652667:TTTTTTTTTTT…

NC_000001.11:200652667:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
Help

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

No publications for rs10590500

Help

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.

Software version is: 2.0.1.post820+afb47a3d