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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.

rs1491522571

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:96693762-96693774 (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
insC(GT)6G
Variation Type
Indel Insertion and Deletion
Frequency
insC(GT)6G=0.00457 (259/56704, GnomAD)
insC(GT)6G=0.00093 (11/11862, ALFA)
insC(GT)6G=0.011 (6/570, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SEM1 : 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 11862 GTGTGTGTGTGTG=0.99907 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.00093 0.998145 0.0 0.001855 0
European Sub 7618 GTGTGTGTGTGTG=0.9987 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.0013 0.997375 0.0 0.002625 0
African Sub 2816 GTGTGTGTGTGTG=1.0000 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 GTGTGTGTGTGTG=1.000 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 GTGTGTGTGTGTG=1.0000 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 GTGTGTGTGTGTG=1.000 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 GTGTGTGTGTGTG=1.00 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 GTGTGTGTGTGTG=1.00 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 GTGTGTGTGTGTG=1.000 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 GTGTGTGTGTGTG=0.998 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.002 0.996721 0.0 0.003279 0
South Asian Sub 94 GTGTGTGTGTGTG=1.00 GTGTGTGTGTGTGCGTGTGTGTGTGTG=0.00 1.0 0.0 0.0 N/A
Other Sub 470 GTGTGTGTGTGTG=1.000 GTGTGTGTGTGTGCGTGTGTGTGTGTG=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
gnomAD - Genomes Global Study-wide 56704 -

No frequency provided

insC(GT)6G=0.00457
gnomAD - Genomes European Sub 39202 -

No frequency provided

insC(GT)6G=0.00607
gnomAD - Genomes African Sub 8128 -

No frequency provided

insC(GT)6G=0.0021
gnomAD - Genomes American Sub 5118 -

No frequency provided

insC(GT)6G=0.0004
gnomAD - Genomes East Asian Sub 1948 -

No frequency provided

insC(GT)6G=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 1432 -

No frequency provided

insC(GT)6G=0.0007
gnomAD - Genomes Other Sub 876 -

No frequency provided

insC(GT)6G=0.001
Allele Frequency Aggregator Total Global 11862 (GT)6G=0.99907 insC(GT)6G=0.00093
Allele Frequency Aggregator European Sub 7618 (GT)6G=0.9987 insC(GT)6G=0.0013
Allele Frequency Aggregator African Sub 2816 (GT)6G=1.0000 insC(GT)6G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (GT)6G=0.998 insC(GT)6G=0.002
Allele Frequency Aggregator Other Sub 470 (GT)6G=1.000 insC(GT)6G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (GT)6G=1.000 insC(GT)6G=0.000
Allele Frequency Aggregator Asian Sub 108 (GT)6G=1.000 insC(GT)6G=0.000
Allele Frequency Aggregator South Asian Sub 94 (GT)6G=1.00 insC(GT)6G=0.00
Northern Sweden ACPOP Study-wide 570 -

No frequency provided

insC(GT)6G=0.011
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 7 NC_000007.14:g.96693762_96693774GT[6]GCGTGTGTGTGTGTG[1]
GRCh37.p13 chr 7 NC_000007.13:g.96323074_96323086GT[6]GCGTGTGTGTGTGTG[1]
SEM1 RefSeqGene NG_009273.2:g.21118_21130CA[6]CGCACACACACACAC[1]
Gene: SEM1, SEM1 26S proteasome subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SEM1 transcript variant 9 NM_001393898.1:c.170+1036…

NM_001393898.1:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 10 NM_001393899.1:c.170+1036…

NM_001393899.1:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 11 NM_001393900.1:c.170+1036…

NM_001393900.1:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 12 NM_001393901.1:c.170+1036…

NM_001393901.1:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 13 NM_001393902.1:c.170+1036…

NM_001393902.1:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 14 NM_001393903.1:c.170+1036…

NM_001393903.1:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 15 NM_001393904.1:c.76+15926…

NM_001393904.1:c.76+15926_76+15927insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 16 NM_001393905.1:c.76+15926…

NM_001393905.1:c.76+15926_76+15927insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 17 NM_001393906.1:c.77-4796_…

NM_001393906.1:c.77-4796_77-4795insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 5 NM_006304.2:c.170+1036_17…

NM_006304.2:c.170+1036_170+1037insCACACACACACACG

N/A Intron Variant
SEM1 transcript variant 1 NR_163950.1:n. N/A Intron Variant
SEM1 transcript variant 2 NR_163951.1:n. N/A Intron Variant
SEM1 transcript variant 3 NR_163952.1:n. N/A Intron Variant
SEM1 transcript variant 4 NR_163953.1:n. N/A Intron Variant
SEM1 transcript variant 8 NR_038948.2:n. N/A Genic Upstream Transcript Variant
SEM1 transcript variant 6 NR_163948.1:n. N/A Genic Upstream Transcript Variant
SEM1 transcript variant 7 NR_163949.1:n. N/A Genic Upstream Transcript Variant
SEM1 transcript variant X1 XR_007060159.1:n. N/A Intron Variant
SEM1 transcript variant X2 XR_007060160.1:n. N/A Intron Variant
SEM1 transcript variant X3 XR_007060161.1:n. 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 (GT)6G= insC(GT)6G
GRCh38.p14 chr 7 NC_000007.14:g.96693762_96693774= NC_000007.14:g.96693762_96693774GT[6]GCGTGTGTGTGTGTG[1]
GRCh37.p13 chr 7 NC_000007.13:g.96323074_96323086= NC_000007.13:g.96323074_96323086GT[6]GCGTGTGTGTGTGTG[1]
SEM1 RefSeqGene NG_009273.2:g.21118_21130= NG_009273.2:g.21118_21130CA[6]CGCACACACACACAC[1]
SEM1 transcript variant 9 NM_001393898.1:c.170+1036= NM_001393898.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 10 NM_001393899.1:c.170+1036= NM_001393899.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 11 NM_001393900.1:c.170+1036= NM_001393900.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 12 NM_001393901.1:c.170+1036= NM_001393901.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 13 NM_001393902.1:c.170+1036= NM_001393902.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 14 NM_001393903.1:c.170+1036= NM_001393903.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 15 NM_001393904.1:c.76+15926= NM_001393904.1:c.76+15926_76+15927insCACACACACACACG
SEM1 transcript variant 16 NM_001393905.1:c.76+15926= NM_001393905.1:c.76+15926_76+15927insCACACACACACACG
SEM1 transcript variant 17 NM_001393906.1:c.77-4796= NM_001393906.1:c.77-4796_77-4795insCACACACACACACG
SEM1 transcript variant 5 NM_006304.1:c.170+1036= NM_006304.1:c.170+1036_170+1037insCACACACACACACG
SEM1 transcript variant 5 NM_006304.2:c.170+1036= NM_006304.2:c.170+1036_170+1037insCACACACACACACG
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#.

3 SubSNP, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2856521700 Jan 10, 2018 (151)
2 ACPOP ss3734883974 Jul 13, 2019 (153)
3 HUGCELL_USP ss5470935118 Oct 13, 2022 (156)
4 gnomAD - Genomes NC_000007.14 - 96693762 Apr 26, 2021 (155)
5 Northern Sweden NC_000007.13 - 96323074 Jul 13, 2019 (153)
6 ALFA NC_000007.14 - 96693762 Apr 26, 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
8168839, ss2856521700, ss3734883974 NC_000007.13:96323073::GTGTGTGTGTG…

NC_000007.13:96323073::GTGTGTGTGTGTGC

NC_000007.14:96693761:GTGTGTGTGTGT…

NC_000007.14:96693761:GTGTGTGTGTGTG:GTGTGTGTGTGTGCGTGTGTGTGTGTG

(self)
270016189, ss5470935118 NC_000007.14:96693761::GTGTGTGTGTG…

NC_000007.14:96693761::GTGTGTGTGTGTGC

NC_000007.14:96693761:GTGTGTGTGTGT…

NC_000007.14:96693761:GTGTGTGTGTGTG:GTGTGTGTGTGTGCGTGTGTGTGTGTG

(self)
5758480976 NC_000007.14:96693761:GTGTGTGTGTGT…

NC_000007.14:96693761:GTGTGTGTGTGTG:GTGTGTGTGTGTGCGTGTGTGTGTGTG

NC_000007.14:96693761:GTGTGTGTGTGT…

NC_000007.14:96693761:GTGTGTGTGTGTG:GTGTGTGTGTGTGCGTGTGTGTGTGTG

(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 rs1491522571

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