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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.

rs768803846

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrX:111163553-111163559 (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
delT / dupT
Variation Type
Indel Insertion and Deletion
Frequency
delT=0.000019 (2/102707, GnomAD)
dupT=0.00001 (1/86976, ExAC)
dupT=0.00005 (1/18518, ALFA)
Clinical Significance
Reported in ClinVar
Gene : Consequence
PAK3 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18518 TTTTTTT=0.99995 TTTTTT=0.00000, TTTTTTTT=0.00005
European Sub 14150 TTTTTTT=0.99993 TTTTTT=0.00000, TTTTTTTT=0.00007
African Sub 2898 TTTTTTT=1.0000 TTTTTT=0.0000, TTTTTTTT=0.0000
African Others Sub 114 TTTTTTT=1.000 TTTTTT=0.000, TTTTTTTT=0.000
African American Sub 2784 TTTTTTT=1.0000 TTTTTT=0.0000, TTTTTTTT=0.0000
Asian Sub 112 TTTTTTT=1.000 TTTTTT=0.000, TTTTTTTT=0.000
East Asian Sub 86 TTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00
Other Asian Sub 26 TTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00
Latin American 1 Sub 146 TTTTTTT=1.000 TTTTTT=0.000, TTTTTTTT=0.000
Latin American 2 Sub 610 TTTTTTT=1.000 TTTTTT=0.000, TTTTTTTT=0.000
South Asian Sub 98 TTTTTTT=1.00 TTTTTT=0.00, TTTTTTTT=0.00
Other Sub 504 TTTTTTT=1.000 TTTTTT=0.000, TTTTTTTT=0.000


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 102707 (T)7=0.999981 delT=0.000019
gnomAD - Genomes European Sub 56466 (T)7=0.99996 delT=0.00004
gnomAD - Genomes African Sub 30886 (T)7=1.00000 delT=0.00000
gnomAD - Genomes American Sub 9104 (T)7=1.0000 delT=0.0000
gnomAD - Genomes Ashkenazi Jewish Sub 2504 (T)7=1.0000 delT=0.0000
gnomAD - Genomes East Asian Sub 2212 (T)7=1.0000 delT=0.0000
gnomAD - Genomes Other Sub 1535 (T)7=1.0000 delT=0.0000
ExAC Global Study-wide 86976 -

No frequency provided

dupT=0.00001
ExAC Europe Sub 52222 -

No frequency provided

dupT=0.00002
ExAC Asian Sub 16706 -

No frequency provided

dupT=0.00000
ExAC American Sub 9232 -

No frequency provided

dupT=0.0000
ExAC African Sub 8188 -

No frequency provided

dupT=0.0000
ExAC Other Sub 628 -

No frequency provided

dupT=0.000
Allele Frequency Aggregator Total Global 18518 (T)7=0.99995 delT=0.00000, dupT=0.00005
Allele Frequency Aggregator European Sub 14150 (T)7=0.99993 delT=0.00000, dupT=0.00007
Allele Frequency Aggregator African Sub 2898 (T)7=1.0000 delT=0.0000, dupT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 (T)7=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator Other Sub 504 (T)7=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 (T)7=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator Asian Sub 112 (T)7=1.000 delT=0.000, dupT=0.000
Allele Frequency Aggregator South Asian Sub 98 (T)7=1.00 delT=0.00, dupT=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 X NC_000023.11:g.111163559del
GRCh38.p14 chr X NC_000023.11:g.111163559dup
GRCh37.p13 chr X NC_000023.10:g.110406787del
GRCh37.p13 chr X NC_000023.10:g.110406787dup
PAK3 RefSeqGene NG_008288.2:g.224275del
PAK3 RefSeqGene NG_008288.2:g.224275dup
Gene: PAK3, p21 (RAC1) activated kinase 3 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PAK3 transcript variant 1 NM_001128166.3:c.601-3del N/A Intron Variant
PAK3 transcript variant 3 NM_001128167.3:c.601-3del N/A Intron Variant
PAK3 transcript variant 4 NM_001128168.3:c.709-3del N/A Intron Variant
PAK3 transcript variant 5 NM_001128172.2:c.664-3del N/A Intron Variant
PAK3 transcript variant 6 NM_001128173.3:c.646-3del N/A Intron Variant
PAK3 transcript variant 8 NM_001324325.2:c.601-3del N/A Intron Variant
PAK3 transcript variant 9 NM_001324326.2:c.601-3del N/A Intron Variant
PAK3 transcript variant 17 NM_001324327.2:c.646-3del N/A Intron Variant
PAK3 transcript variant 18 NM_001324328.2:c.646-3del N/A Intron Variant
PAK3 transcript variant 19 NM_001324329.2:c.646-3del N/A Intron Variant
PAK3 transcript variant 20 NM_001324330.2:c.601-3del N/A Intron Variant
PAK3 transcript variant 21 NM_001324331.2:c.601-3del N/A Intron Variant
PAK3 transcript variant 22 NM_001324332.2:c.601-3del N/A Intron Variant
PAK3 transcript variant 23 NM_001324333.2:c.646-3del N/A Intron Variant
PAK3 transcript variant 24 NM_001324334.2:c.601-3del N/A Intron Variant
PAK3 transcript variant 2 NM_002578.5:c.601-3del N/A Intron Variant
PAK3 transcript variant 25 NR_136747.2:n. N/A Intron Variant
PAK3 transcript variant 7 NR_136748.1:n. N/A Intron Variant
PAK3 transcript variant 10 NR_136740.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant 11 NR_136741.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant 12 NR_136742.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant 13 NR_136743.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant 14 NR_136744.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant 15 NR_136745.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant 16 NR_136746.2:n. N/A Genic Downstream Transcript Variant
PAK3 transcript variant X1 XM_005262132.3:c.646-3del N/A Intron Variant
PAK3 transcript variant X8 XM_005262133.4:c.601-3del N/A Intron Variant
PAK3 transcript variant X2 XM_006724654.3:c.646-3del N/A Intron Variant
PAK3 transcript variant X3 XM_006724655.3:c.646-3del N/A Intron Variant
PAK3 transcript variant X4 XM_011530962.2:c.646-3del N/A Intron Variant
PAK3 transcript variant X6 XM_011530968.3:c.646-3del N/A Intron Variant
PAK3 transcript variant X5 XM_011530969.2:c.646-3del N/A Intron Variant
PAK3 transcript variant X17 XM_011530971.3:c.646-3del N/A Intron Variant
PAK3 transcript variant X7 XM_017029557.2:c.646-3del N/A Intron Variant
PAK3 transcript variant X10 XM_017029558.2:c.601-3del N/A Intron Variant
PAK3 transcript variant X11 XM_017029559.2:c.601-3del N/A Intron Variant
PAK3 transcript variant X12 XM_017029560.2:c.601-3del N/A Intron Variant
PAK3 transcript variant X18 XM_017029563.2:c.709-3del N/A Intron Variant
PAK3 transcript variant X9 XM_047442146.1:c.601-3del N/A Intron Variant
PAK3 transcript variant X13 XM_047442147.1:c.601-3del N/A Intron Variant
PAK3 transcript variant X14 XM_047442148.1:c.601-3del N/A Intron Variant
PAK3 transcript variant X15 XM_047442149.1:c.601-3del N/A Intron Variant
PAK3 transcript variant X16 XM_047442150.1:c.562-3del 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.

Allele: dupT (allele ID: 351947 )
ClinVar Accession Disease Names Clinical Significance
RCV000270374.3 Non-syndromic X-linked intellectual disability Uncertain-Significance
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)7= delT dupT
GRCh38.p14 chr X NC_000023.11:g.111163553_111163559= NC_000023.11:g.111163559del NC_000023.11:g.111163559dup
GRCh37.p13 chr X NC_000023.10:g.110406781_110406787= NC_000023.10:g.110406787del NC_000023.10:g.110406787dup
PAK3 RefSeqGene NG_008288.2:g.224269_224275= NG_008288.2:g.224275del NG_008288.2:g.224275dup
PAK3 transcript variant 1 NM_001128166.1:c.601-9= NM_001128166.1:c.601-3del NM_001128166.1:c.601-3dup
PAK3 transcript variant 1 NM_001128166.3:c.601-9= NM_001128166.3:c.601-3del NM_001128166.3:c.601-3dup
PAK3 transcript variant 3 NM_001128167.1:c.601-9= NM_001128167.1:c.601-3del NM_001128167.1:c.601-3dup
PAK3 transcript variant 3 NM_001128167.3:c.601-9= NM_001128167.3:c.601-3del NM_001128167.3:c.601-3dup
PAK3 transcript variant 4 NM_001128168.1:c.709-9= NM_001128168.1:c.709-3del NM_001128168.1:c.709-3dup
PAK3 transcript variant 4 NM_001128168.3:c.709-9= NM_001128168.3:c.709-3del NM_001128168.3:c.709-3dup
PAK3 transcript variant 5 NM_001128172.1:c.664-9= NM_001128172.1:c.664-3del NM_001128172.1:c.664-3dup
PAK3 transcript variant 5 NM_001128172.2:c.664-9= NM_001128172.2:c.664-3del NM_001128172.2:c.664-3dup
PAK3 transcript variant 6 NM_001128173.1:c.646-9= NM_001128173.1:c.646-3del NM_001128173.1:c.646-3dup
PAK3 transcript variant 6 NM_001128173.3:c.646-9= NM_001128173.3:c.646-3del NM_001128173.3:c.646-3dup
PAK3 transcript variant 8 NM_001324325.2:c.601-9= NM_001324325.2:c.601-3del NM_001324325.2:c.601-3dup
PAK3 transcript variant 9 NM_001324326.2:c.601-9= NM_001324326.2:c.601-3del NM_001324326.2:c.601-3dup
PAK3 transcript variant 17 NM_001324327.2:c.646-9= NM_001324327.2:c.646-3del NM_001324327.2:c.646-3dup
PAK3 transcript variant 18 NM_001324328.2:c.646-9= NM_001324328.2:c.646-3del NM_001324328.2:c.646-3dup
PAK3 transcript variant 19 NM_001324329.2:c.646-9= NM_001324329.2:c.646-3del NM_001324329.2:c.646-3dup
PAK3 transcript variant 20 NM_001324330.2:c.601-9= NM_001324330.2:c.601-3del NM_001324330.2:c.601-3dup
PAK3 transcript variant 21 NM_001324331.2:c.601-9= NM_001324331.2:c.601-3del NM_001324331.2:c.601-3dup
PAK3 transcript variant 22 NM_001324332.2:c.601-9= NM_001324332.2:c.601-3del NM_001324332.2:c.601-3dup
PAK3 transcript variant 23 NM_001324333.2:c.646-9= NM_001324333.2:c.646-3del NM_001324333.2:c.646-3dup
PAK3 transcript variant 24 NM_001324334.2:c.601-9= NM_001324334.2:c.601-3del NM_001324334.2:c.601-3dup
PAK3 transcript variant 2 NM_002578.3:c.601-9= NM_002578.3:c.601-3del NM_002578.3:c.601-3dup
PAK3 transcript variant 2 NM_002578.5:c.601-9= NM_002578.5:c.601-3del NM_002578.5:c.601-3dup
PAK3 transcript variant X1 XM_005262131.1:c.709-9= XM_005262131.1:c.709-3del XM_005262131.1:c.709-3dup
PAK3 transcript variant X2 XM_005262132.1:c.646-9= XM_005262132.1:c.646-3del XM_005262132.1:c.646-3dup
PAK3 transcript variant X1 XM_005262132.3:c.646-9= XM_005262132.3:c.646-3del XM_005262132.3:c.646-3dup
PAK3 transcript variant X3 XM_005262133.1:c.601-9= XM_005262133.1:c.601-3del XM_005262133.1:c.601-3dup
PAK3 transcript variant X8 XM_005262133.4:c.601-9= XM_005262133.4:c.601-3del XM_005262133.4:c.601-3dup
PAK3 transcript variant X4 XM_005262134.1:c.595-9= XM_005262134.1:c.595-3del XM_005262134.1:c.595-3dup
PAK3 transcript variant X5 XM_005262135.1:c.598-9= XM_005262135.1:c.598-3del XM_005262135.1:c.598-3dup
PAK3 transcript variant X2 XM_006724654.3:c.646-9= XM_006724654.3:c.646-3del XM_006724654.3:c.646-3dup
PAK3 transcript variant X3 XM_006724655.3:c.646-9= XM_006724655.3:c.646-3del XM_006724655.3:c.646-3dup
PAK3 transcript variant X4 XM_011530962.2:c.646-9= XM_011530962.2:c.646-3del XM_011530962.2:c.646-3dup
PAK3 transcript variant X6 XM_011530968.3:c.646-9= XM_011530968.3:c.646-3del XM_011530968.3:c.646-3dup
PAK3 transcript variant X5 XM_011530969.2:c.646-9= XM_011530969.2:c.646-3del XM_011530969.2:c.646-3dup
PAK3 transcript variant X17 XM_011530971.3:c.646-9= XM_011530971.3:c.646-3del XM_011530971.3:c.646-3dup
PAK3 transcript variant X7 XM_017029557.2:c.646-9= XM_017029557.2:c.646-3del XM_017029557.2:c.646-3dup
PAK3 transcript variant X10 XM_017029558.2:c.601-9= XM_017029558.2:c.601-3del XM_017029558.2:c.601-3dup
PAK3 transcript variant X11 XM_017029559.2:c.601-9= XM_017029559.2:c.601-3del XM_017029559.2:c.601-3dup
PAK3 transcript variant X12 XM_017029560.2:c.601-9= XM_017029560.2:c.601-3del XM_017029560.2:c.601-3dup
PAK3 transcript variant X18 XM_017029563.2:c.709-9= XM_017029563.2:c.709-3del XM_017029563.2:c.709-3dup
PAK3 transcript variant X9 XM_047442146.1:c.601-9= XM_047442146.1:c.601-3del XM_047442146.1:c.601-3dup
PAK3 transcript variant X13 XM_047442147.1:c.601-9= XM_047442147.1:c.601-3del XM_047442147.1:c.601-3dup
PAK3 transcript variant X14 XM_047442148.1:c.601-9= XM_047442148.1:c.601-3del XM_047442148.1:c.601-3dup
PAK3 transcript variant X15 XM_047442149.1:c.601-9= XM_047442149.1:c.601-3del XM_047442149.1:c.601-3dup
PAK3 transcript variant X16 XM_047442150.1:c.562-9= XM_047442150.1:c.562-3del XM_047442150.1:c.562-3dup
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#.

5 SubSNP, 7 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 EVA_EXAC ss1712268598 Apr 01, 2015 (144)
2 CLINVAR ss2137337686 Jan 09, 2017 (149)
3 GNOMAD ss4376964932 Apr 26, 2021 (155)
4 TOPMED ss5134013713 Apr 26, 2021 (155)
5 TOPMED ss5134013714 Apr 26, 2021 (155)
6 ExAC NC_000023.10 - 110406781 Oct 12, 2018 (152)
7 gnomAD - Genomes NC_000023.11 - 111163553 Apr 26, 2021 (155)
8 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14849251 (NC_000023.10:110406780::T 5/182093)
Row 14849253 (NC_000023.10:110406780:T: 1/182093)

- Jul 14, 2019 (153)
9 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 14849251 (NC_000023.10:110406780::T 5/182093)
Row 14849253 (NC_000023.10:110406780:T: 1/182093)

- Jul 14, 2019 (153)
10 TopMed

Submission ignored due to conflicting rows:
Row 697620070 (NC_000023.11:111163552::T 2/264690)
Row 697620071 (NC_000023.11:111163552:T: 2/264690)

- Apr 26, 2021 (155)
11 TopMed

Submission ignored due to conflicting rows:
Row 697620070 (NC_000023.11:111163552::T 2/264690)
Row 697620071 (NC_000023.11:111163552:T: 2/264690)

- Apr 26, 2021 (155)
12 ALFA NC_000023.11 - 111163553 Apr 26, 2021 (155)
13 ClinVar RCV000270374.3 Oct 17, 2022 (156)
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
NC_000023.10:110406780:T: NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTT

(self)
588875804, ss4376964932, ss5134013714 NC_000023.11:111163552:T: NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTT

(self)
3432521656 NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTT

NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTT

(self)
10100215, ss1712268598 NC_000023.10:110406780::T NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTTTT

(self)
ss5134013713 NC_000023.11:111163552::T NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTTTT

(self)
RCV000270374.3, 3432521656 NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTTTT

NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTTTT

(self)
ss2137337686 NC_000023.11:111163559::T NC_000023.11:111163552:TTTTTTT:TTT…

NC_000023.11:111163552:TTTTTTT:TTTTTTTT

(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 rs768803846

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.post761+d5e8e07