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.

rs1491343955

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:46112999-46113001 (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
dupTAT / ins(TATATATATAATATATATATT…

dupTAT / ins(TATATATATAATATATATATTCCATAT)2TAT / ins(TA)5(AT)5TCCATAT(TA)3TGGAA(TA)4TTCCATATTAT / ins(TA)3TGGAA(TA)4TTCCATATTAT / ins(TATATATGGAATATATATATTCCATAT)2TAT

Variation Type
Indel Insertion and Deletion
Frequency
dupTAT=0.15014 (1781/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HAUS1 : 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 TAT=0.84986 TATTAT=0.15014 0.699882 0.000169 0.299949 32
European Sub 7618 TAT=0.8490 TATTAT=0.1510 0.698083 0.0 0.301917 32
African Sub 2816 TAT=0.8544 TATTAT=0.1456 0.709517 0.00071 0.289773 21
African Others Sub 108 TAT=0.833 TATTAT=0.167 0.666667 0.0 0.333333 1
African American Sub 2708 TAT=0.8552 TATTAT=0.1448 0.711226 0.000739 0.288035 20
Asian Sub 108 TAT=0.861 TATTAT=0.139 0.722222 0.0 0.277778 1
East Asian Sub 84 TAT=0.83 TATTAT=0.17 0.666667 0.0 0.333333 1
Other Asian Sub 24 TAT=0.96 TATTAT=0.04 0.916667 0.0 0.083333 0
Latin American 1 Sub 146 TAT=0.849 TATTAT=0.151 0.69863 0.0 0.30137 2
Latin American 2 Sub 610 TAT=0.856 TATTAT=0.144 0.711475 0.0 0.288525 5
South Asian Sub 94 TAT=0.83 TATTAT=0.17 0.659574 0.0 0.340426 1
Other Sub 470 TAT=0.830 TATTAT=0.170 0.659574 0.0 0.340426 6


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
Allele Frequency Aggregator Total Global 11862 TAT=0.84986 dupTAT=0.15014
Allele Frequency Aggregator European Sub 7618 TAT=0.8490 dupTAT=0.1510
Allele Frequency Aggregator African Sub 2816 TAT=0.8544 dupTAT=0.1456
Allele Frequency Aggregator Latin American 2 Sub 610 TAT=0.856 dupTAT=0.144
Allele Frequency Aggregator Other Sub 470 TAT=0.830 dupTAT=0.170
Allele Frequency Aggregator Latin American 1 Sub 146 TAT=0.849 dupTAT=0.151
Allele Frequency Aggregator Asian Sub 108 TAT=0.861 dupTAT=0.139
Allele Frequency Aggregator South Asian Sub 94 TAT=0.83 dupTAT=0.17
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 18 NC_000018.10:g.46112999_46113001dup
GRCh38.p14 chr 18 NC_000018.10:g.46112999_46113001TATTATATATATAATATATATATTCCA[2]TAT[2]
GRCh38.p14 chr 18 NC_000018.10:g.46112999_46113001TAT[2]ATATATA[2]TATTCCATATTATATATGGAATATATATATTCCATATTAT[1]
GRCh38.p14 chr 18 NC_000018.10:g.46112999_46113001TAT[2]AT[2]GGAATATATATATTCCATATTAT[1]
GRCh38.p14 chr 18 NC_000018.10:g.46112999_46113001TATTATATATGGAATATATATATTCCA[2]TAT[2]
GRCh37.p13 chr 18 NC_000018.9:g.43692965_43692967dup
GRCh37.p13 chr 18 NC_000018.9:g.43692965_43692967TATTATATATATAATATATATATTCCA[2]TAT[2]
GRCh37.p13 chr 18 NC_000018.9:g.43692965_43692967TAT[2]ATATATA[2]TATTCCATATTATATATGGAATATATATATTCCATATTAT[1]
GRCh37.p13 chr 18 NC_000018.9:g.43692965_43692967TAT[2]AT[2]GGAATATATATATTCCATATTAT[1]
GRCh37.p13 chr 18 NC_000018.9:g.43692965_43692967TATTATATATGGAATATATATATTCCA[2]TAT[2]
ATP5F1A RefSeqGene NG_041769.2:g.1233_1235dup
ATP5F1A RefSeqGene NG_041769.2:g.1233_1235ATAATATGGAATATATATATTATATAT[2]ATA[2]
ATP5F1A RefSeqGene NG_041769.2:g.1233_1235ATA[2]TGGAATATATATATTCCATATATAATATGGAATATATATATTATATATATAATA[1]
ATP5F1A RefSeqGene NG_041769.2:g.1233_1235ATA[2]TGGAATATATATATTCCATATATAATA[1]
ATP5F1A RefSeqGene NG_041769.2:g.1233_1235ATAATATGGAATATATATATTCCATAT[2]ATA[2]
Gene: HAUS1, HAUS augmin like complex subunit 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
HAUS1 transcript variant 1 NM_138443.4:c.206-5182_20…

NM_138443.4:c.206-5182_206-5180dup

N/A Intron Variant
HAUS1 transcript variant 2 NR_026978.2: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 TAT= dupTAT ins(TATATATATAATATATATATTCCATAT)2TAT ins(TA)5(AT)5TCCATAT(TA)3TGGAA(TA)4TTCCATATTAT ins(TA)3TGGAA(TA)4TTCCATATTAT ins(TATATATGGAATATATATATTCCATAT)2TAT
GRCh38.p14 chr 18 NC_000018.10:g.46112999_46113001= NC_000018.10:g.46112999_46113001dup NC_000018.10:g.46112999_46113001TATTATATATATAATATATATATTCCA[2]TAT[2] NC_000018.10:g.46112999_46113001TAT[2]ATATATA[2]TATTCCATATTATATATGGAATATATATATTCCATATTAT[1] NC_000018.10:g.46112999_46113001TAT[2]AT[2]GGAATATATATATTCCATATTAT[1] NC_000018.10:g.46112999_46113001TATTATATATGGAATATATATATTCCA[2]TAT[2]
GRCh37.p13 chr 18 NC_000018.9:g.43692965_43692967= NC_000018.9:g.43692965_43692967dup NC_000018.9:g.43692965_43692967TATTATATATATAATATATATATTCCA[2]TAT[2] NC_000018.9:g.43692965_43692967TAT[2]ATATATA[2]TATTCCATATTATATATGGAATATATATATTCCATATTAT[1] NC_000018.9:g.43692965_43692967TAT[2]AT[2]GGAATATATATATTCCATATTAT[1] NC_000018.9:g.43692965_43692967TATTATATATGGAATATATATATTCCA[2]TAT[2]
ATP5F1A RefSeqGene NG_041769.2:g.1233_1235= NG_041769.2:g.1233_1235dup NG_041769.2:g.1233_1235ATAATATGGAATATATATATTATATAT[2]ATA[2] NG_041769.2:g.1233_1235ATA[2]TGGAATATATATATTCCATATATAATATGGAATATATATATTATATATATAATA[1] NG_041769.2:g.1233_1235ATA[2]TGGAATATATATATTCCATATATAATA[1] NG_041769.2:g.1233_1235ATAATATGGAATATATATATTCCATAT[2]ATA[2]
HAUS1 transcript variant 1 NM_138443.3:c.206-5182= NM_138443.3:c.206-5182_206-5180dup NM_138443.3:c.206-5180_206-5179insTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATATTAT NM_138443.3:c.206-5180_206-5179insTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT NM_138443.3:c.206-5180_206-5179insTATATATGGAATATATATATTCCATATTAT NM_138443.3:c.206-5180_206-5179insTATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT
HAUS1 transcript variant 1 NM_138443.4:c.206-5182= NM_138443.4:c.206-5182_206-5180dup NM_138443.4:c.206-5180_206-5179insTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATATTAT NM_138443.4:c.206-5180_206-5179insTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT NM_138443.4:c.206-5180_206-5179insTATATATGGAATATATATATTCCATATTAT NM_138443.4:c.206-5180_206-5179insTATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT
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#.

2 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4321827742 Apr 26, 2021 (155)
2 GNOMAD ss4321827749 Apr 26, 2021 (155)
3 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 524202920 (NC_000018.10:46112998::TAT 41/63896)
Row 524202968 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATAT 2/63984)
Row 524202969 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATAT 1/63984)...

- Apr 26, 2021 (155)
4 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 524202920 (NC_000018.10:46112998::TAT 41/63896)
Row 524202968 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATAT 2/63984)
Row 524202969 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATAT 1/63984)...

- Apr 26, 2021 (155)
5 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 524202920 (NC_000018.10:46112998::TAT 41/63896)
Row 524202968 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATAT 2/63984)
Row 524202969 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATAT 1/63984)...

- Apr 26, 2021 (155)
6 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 524202920 (NC_000018.10:46112998::TAT 41/63896)
Row 524202968 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATAT 2/63984)
Row 524202969 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATAT 1/63984)...

- Apr 26, 2021 (155)
7 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 524202920 (NC_000018.10:46112998::TAT 41/63896)
Row 524202968 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATAT 2/63984)
Row 524202969 (NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATAT 1/63984)...

- Apr 26, 2021 (155)
8 ALFA NC_000018.10 - 46112999 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
ss4321827742 NC_000018.10:46112998::TAT NC_000018.10:46112998:TAT:TATTAT (self)
6972752101 NC_000018.10:46112998:TAT:TATTAT NC_000018.10:46112998:TAT:TATTAT (self)
NC_000018.10:46112998::TATTATATATA…

NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATAT

NC_000018.10:46112998:TAT:TATTATAT…

NC_000018.10:46112998:TAT:TATTATATATATAATATATATATTCCATATTATATATATAATATATATATTCCATATTAT

(self)
NC_000018.10:46112998::TATTATATATA…

NC_000018.10:46112998::TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATAT

NC_000018.10:46112998:TAT:TATTATAT…

NC_000018.10:46112998:TAT:TATTATATATATAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT

(self)
ss4321827749 NC_000018.10:46112998::TATTATATATG…

NC_000018.10:46112998::TATTATATATGGAATATATATATTCCATAT

NC_000018.10:46112998:TAT:TATTATAT…

NC_000018.10:46112998:TAT:TATTATATATGGAATATATATATTCCATATTAT

(self)
NC_000018.10:46112998::TATTATATATG…

NC_000018.10:46112998::TATTATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATAT

NC_000018.10:46112998:TAT:TATTATAT…

NC_000018.10:46112998:TAT:TATTATATATGGAATATATATATTCCATATTATATATGGAATATATATATTCCATATTAT

(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 rs1491343955

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