Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs1491375882

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:64239135 (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
dupG / ins(GAA)5(GAGGAA)3GAGG / in…

dupG / ins(GAA)5(GAGGAA)3GAGG / ins(GAA)5(GAGGAA)4GAGG / ins(GAA)3(GAGGAA)4GAGG / ins(GAA)3(GAGGAA)5GAGG / ins(GAAGAG)5G

Variation Type
Indel Insertion and Deletion
Frequency
ins(GAA)5(GAGGAA)4GAGG=0.00059 (14/23596, 14KJPN)
ins(GAA)5(GAGGAA)4GAGG=0.00092 (12/13026, 8.3KJPN)
dupG=0.00000 (0/11272, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UBE2U : 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 11272 G=1.00000 GG=0.00000 1.0 0.0 0.0 N/A
European Sub 7266 G=1.0000 GG=0.0000 1.0 0.0 0.0 N/A
African Sub 2682 G=1.0000 GG=0.0000 1.0 0.0 0.0 N/A
African Others Sub 94 G=1.00 GG=0.00 1.0 0.0 0.0 N/A
African American Sub 2588 G=1.0000 GG=0.0000 1.0 0.0 0.0 N/A
Asian Sub 100 G=1.00 GG=0.00 1.0 0.0 0.0 N/A
East Asian Sub 80 G=1.00 GG=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 20 G=1.00 GG=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 138 G=1.000 GG=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 576 G=1.000 GG=0.000 1.0 0.0 0.0 N/A
South Asian Sub 84 G=1.00 GG=0.00 1.0 0.0 0.0 N/A
Other Sub 426 G=1.000 GG=0.000 1.0 0.0 0.0 N/A


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
14KJPN JAPANESE Study-wide 23596 -

No frequency provided

ins(GAA)5(GAGGAA)4GAGG=0.00059
8.3KJPN JAPANESE Study-wide 13026 -

No frequency provided

ins(GAA)5(GAGGAA)4GAGG=0.00092
Allele Frequency Aggregator Total Global 11272 G=1.00000 dupG=0.00000
Allele Frequency Aggregator European Sub 7266 G=1.0000 dupG=0.0000
Allele Frequency Aggregator African Sub 2682 G=1.0000 dupG=0.0000
Allele Frequency Aggregator Latin American 2 Sub 576 G=1.000 dupG=0.000
Allele Frequency Aggregator Other Sub 426 G=1.000 dupG=0.000
Allele Frequency Aggregator Latin American 1 Sub 138 G=1.000 dupG=0.000
Allele Frequency Aggregator Asian Sub 100 G=1.00 dupG=0.00
Allele Frequency Aggregator South Asian Sub 84 G=1.00 dupG=0.00
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.64239135dup
GRCh38.p14 chr 1 NC_000001.11:g.64239135_64239136insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh38.p14 chr 1 NC_000001.11:g.64239135_64239136insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh38.p14 chr 1 NC_000001.11:g.64239135_64239136insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh38.p14 chr 1 NC_000001.11:g.64239135_64239136insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh38.p14 chr 1 NC_000001.11:g.64239135GGAAGA[5]GG[1]
GRCh37.p13 chr 1 NC_000001.10:g.64704818dup
GRCh37.p13 chr 1 NC_000001.10:g.64704818_64704819insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh37.p13 chr 1 NC_000001.10:g.64704818_64704819insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh37.p13 chr 1 NC_000001.10:g.64704818_64704819insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh37.p13 chr 1 NC_000001.10:g.64704818_64704819insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
GRCh37.p13 chr 1 NC_000001.10:g.64704818GGAAGA[5]GG[1]
Gene: UBE2U, ubiquitin conjugating enzyme E2 U (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UBE2U transcript variant 1 NM_001366232.2:c.596-2517…

NM_001366232.2:c.596-2517dup

N/A Intron Variant
UBE2U transcript variant 2 NM_001366233.2:c.593-2517…

NM_001366233.2:c.593-2517dup

N/A Intron Variant
UBE2U transcript variant 3 NM_001366234.2:c.458-2517…

NM_001366234.2:c.458-2517dup

N/A Intron Variant
UBE2U transcript variant 5 NM_001366235.1:c.507-2517…

NM_001366235.1:c.507-2517dup

N/A Intron Variant
UBE2U transcript variant 4 NM_152489.3:c.596-2517dup N/A Intron Variant
UBE2U transcript variant 6 NR_158768.1:n. N/A Intron Variant
UBE2U transcript variant 7 NR_158769.2:n. N/A Intron Variant
UBE2U transcript variant X1 XM_006710379.4:c.500-2517…

XM_006710379.4:c.500-2517dup

N/A Intron Variant
UBE2U transcript variant X2 XM_017000379.2:c.218-2517…

XM_017000379.2:c.218-2517dup

N/A Intron Variant
UBE2U transcript variant X3 XM_017000380.2:c.218-2517…

XM_017000380.2:c.218-2517dup

N/A Intron Variant
UBE2U transcript variant X4 XM_017000381.2:c.218-2517…

XM_017000381.2:c.218-2517dup

N/A Intron Variant
UBE2U transcript variant X5 XM_017000382.2:c.218-2517…

XM_017000382.2:c.218-2517dup

N/A Intron Variant
UBE2U transcript variant X6 XM_017000383.2:c.140-2517…

XM_017000383.2:c.140-2517dup

N/A Intron Variant
UBE2U transcript variant X7 XM_017000384.2:c.140-2517…

XM_017000384.2:c.140-2517dup

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 G= dupG ins(GAA)5(GAGGAA)3GAGG ins(GAA)5(GAGGAA)4GAGG ins(GAA)3(GAGGAA)4GAGG ins(GAA)3(GAGGAA)5GAGG ins(GAAGAG)5G
GRCh38.p14 chr 1 NC_000001.11:g.64239135= NC_000001.11:g.64239135dup NC_000001.11:g.64239135_64239136insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.11:g.64239135_64239136insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.11:g.64239135_64239136insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.11:g.64239135_64239136insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.11:g.64239135GGAAGA[5]GG[1]
GRCh37.p13 chr 1 NC_000001.10:g.64704818= NC_000001.10:g.64704818dup NC_000001.10:g.64704818_64704819insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.10:g.64704818_64704819insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.10:g.64704818_64704819insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.10:g.64704818_64704819insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NC_000001.10:g.64704818GGAAGA[5]GG[1]
UBE2U transcript variant 1 NM_001366232.2:c.596-2517= NM_001366232.2:c.596-2517dup NM_001366232.2:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366232.2:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366232.2:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366232.2:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366232.2:c.596-2517_596-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant 2 NM_001366233.2:c.593-2517= NM_001366233.2:c.593-2517dup NM_001366233.2:c.593-2517_593-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366233.2:c.593-2517_593-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366233.2:c.593-2517_593-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366233.2:c.593-2517_593-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366233.2:c.593-2517_593-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant 3 NM_001366234.2:c.458-2517= NM_001366234.2:c.458-2517dup NM_001366234.2:c.458-2517_458-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366234.2:c.458-2517_458-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366234.2:c.458-2517_458-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366234.2:c.458-2517_458-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366234.2:c.458-2517_458-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant 5 NM_001366235.1:c.507-2517= NM_001366235.1:c.507-2517dup NM_001366235.1:c.507-2517_507-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366235.1:c.507-2517_507-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366235.1:c.507-2517_507-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366235.1:c.507-2517_507-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_001366235.1:c.507-2517_507-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript NM_152489.1:c.596-2517= NM_152489.1:c.596-2517dup NM_152489.1:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.1:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.1:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.1:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.1:c.596-2517_596-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant 4 NM_152489.3:c.596-2517= NM_152489.3:c.596-2517dup NM_152489.3:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.3:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.3:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.3:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG NM_152489.3:c.596-2517_596-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X1 XM_005270498.1:c.596-2517= XM_005270498.1:c.596-2517dup XM_005270498.1:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270498.1:c.596-2517_596-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270498.1:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270498.1:c.596-2517_596-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270498.1:c.596-2517_596-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X2 XM_005270499.1:c.507-2517= XM_005270499.1:c.507-2517dup XM_005270499.1:c.507-2517_507-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270499.1:c.507-2517_507-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270499.1:c.507-2517_507-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270499.1:c.507-2517_507-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_005270499.1:c.507-2517_507-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X1 XM_006710379.4:c.500-2517= XM_006710379.4:c.500-2517dup XM_006710379.4:c.500-2517_500-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_006710379.4:c.500-2517_500-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_006710379.4:c.500-2517_500-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_006710379.4:c.500-2517_500-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_006710379.4:c.500-2517_500-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X2 XM_017000379.2:c.218-2517= XM_017000379.2:c.218-2517dup XM_017000379.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000379.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000379.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000379.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000379.2:c.218-2517_218-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X3 XM_017000380.2:c.218-2517= XM_017000380.2:c.218-2517dup XM_017000380.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000380.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000380.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000380.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000380.2:c.218-2517_218-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X4 XM_017000381.2:c.218-2517= XM_017000381.2:c.218-2517dup XM_017000381.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000381.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000381.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000381.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000381.2:c.218-2517_218-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X5 XM_017000382.2:c.218-2517= XM_017000382.2:c.218-2517dup XM_017000382.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000382.2:c.218-2517_218-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000382.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000382.2:c.218-2517_218-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000382.2:c.218-2517_218-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X6 XM_017000383.2:c.140-2517= XM_017000383.2:c.140-2517dup XM_017000383.2:c.140-2517_140-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000383.2:c.140-2517_140-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000383.2:c.140-2517_140-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000383.2:c.140-2517_140-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000383.2:c.140-2517_140-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
UBE2U transcript variant X7 XM_017000384.2:c.140-2517= XM_017000384.2:c.140-2517dup XM_017000384.2:c.140-2517_140-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000384.2:c.140-2517_140-2516insGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000384.2:c.140-2517_140-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000384.2:c.140-2517_140-2516insGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG XM_017000384.2:c.140-2517_140-2516insGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG
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#.

8 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 EVA_DECODE ss3686899235 Jul 12, 2019 (153)
2 GNOMAD ss3994770919 Apr 25, 2021 (155)
3 GNOMAD ss3994770923 Apr 25, 2021 (155)
4 GNOMAD ss3994770924 Apr 25, 2021 (155)
5 GNOMAD ss3994770925 Apr 25, 2021 (155)
6 GNOMAD ss3994770926 Apr 25, 2021 (155)
7 TOMMO_GENOMICS ss5144238828 Apr 25, 2021 (155)
8 TOMMO_GENOMICS ss5669093588 Oct 12, 2022 (156)
9 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 13249820 (NC_000001.11:64239134::G 38/26618)
Row 13249824 (NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG 3/26642)
Row 13249825 (NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG 4/26644)...

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

Submission ignored due to conflicting rows:
Row 13249820 (NC_000001.11:64239134::G 38/26618)
Row 13249824 (NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG 3/26642)
Row 13249825 (NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG 4/26644)...

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

Submission ignored due to conflicting rows:
Row 13249820 (NC_000001.11:64239134::G 38/26618)
Row 13249824 (NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG 3/26642)
Row 13249825 (NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG 4/26644)...

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

Submission ignored due to conflicting rows:
Row 13249820 (NC_000001.11:64239134::G 38/26618)
Row 13249824 (NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG 3/26642)
Row 13249825 (NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG 4/26644)...

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

Submission ignored due to conflicting rows:
Row 13249820 (NC_000001.11:64239134::G 38/26618)
Row 13249824 (NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG 3/26642)
Row 13249825 (NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG 4/26644)...

- Apr 25, 2021 (155)
14 8.3KJPN NC_000001.10 - 64704818 Apr 25, 2021 (155)
15 14KJPN NC_000001.11 - 64239135 Oct 12, 2022 (156)
16 ALFA NC_000001.11 - 64239135 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3994770919 NC_000001.11:64239134::G NC_000001.11:64239134:G:GG (self)
11249157892 NC_000001.11:64239134:G:GG NC_000001.11:64239134:G:GG (self)
ss3686899235 NC_000001.11:64239135::G NC_000001.11:64239134:G:GG (self)
ss3994770923 NC_000001.11:64239134::GGAAGAAGAAG…

NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAG

NC_000001.11:64239134:G:GGAAGAAGAA…

NC_000001.11:64239134:G:GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGG

(self)
2208135, ss5144238828 NC_000001.10:64704817::GGAAGAAGAAG…

NC_000001.10:64704817::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG

NC_000001.11:64239134:G:GGAAGAAGAA…

NC_000001.11:64239134:G:GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG

(self)
2930692, ss5669093588 NC_000001.11:64239134::GGAAGAAGAAG…

NC_000001.11:64239134::GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG

NC_000001.11:64239134:G:GGAAGAAGAA…

NC_000001.11:64239134:G:GGAAGAAGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG

ss3994770924 NC_000001.11:64239134::GGAAGAAGAAG…

NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG

NC_000001.11:64239134:G:GGAAGAAGAA…

NC_000001.11:64239134:G:GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG

(self)
ss3994770925 NC_000001.11:64239134::GGAAGAAGAAG…

NC_000001.11:64239134::GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG

NC_000001.11:64239134:G:GGAAGAAGAA…

NC_000001.11:64239134:G:GGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG

(self)
ss3994770926 NC_000001.11:64239134::GGAAGAGGAAG…

NC_000001.11:64239134::GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG

NC_000001.11:64239134:G:GGAAGAGGAA…

NC_000001.11:64239134:G:GGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGG

(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 rs1491375882

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