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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.

rs1491478556

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:168922160-168922163 (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
delAC
Variation Type
Indel Insertion and Deletion
Frequency
delAC=0.000004 (1/264690, TOPMED)
delAC=0.000007 (1/139164, GnomAD)
delAC=0.00000 (0/14050, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CBR4 : Intron Variant
PALLD : 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 14050 ACAC=1.00000 AC=0.00000 1.0 0.0 0.0 N/A
European Sub 9690 ACAC=1.0000 AC=0.0000 1.0 0.0 0.0 N/A
African Sub 2898 ACAC=1.0000 AC=0.0000 1.0 0.0 0.0 N/A
African Others Sub 114 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
African American Sub 2784 ACAC=1.0000 AC=0.0000 1.0 0.0 0.0 N/A
Asian Sub 112 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 ACAC=1.000 AC=0.000 1.0 0.0 0.0 N/A
South Asian Sub 98 ACAC=1.00 AC=0.00 1.0 0.0 0.0 N/A
Other Sub 496 ACAC=1.000 AC=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
TopMed Global Study-wide 264690 ACAC=0.999996 delAC=0.000004
gnomAD - Genomes Global Study-wide 139164 ACAC=0.999993 delAC=0.000007
gnomAD - Genomes European Sub 75370 ACAC=0.99999 delAC=0.00001
gnomAD - Genomes African Sub 41746 ACAC=1.00000 delAC=0.00000
gnomAD - Genomes American Sub 13484 ACAC=1.00000 delAC=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3308 ACAC=1.0000 delAC=0.0000
gnomAD - Genomes East Asian Sub 3120 ACAC=1.0000 delAC=0.0000
gnomAD - Genomes Other Sub 2136 ACAC=1.0000 delAC=0.0000
Allele Frequency Aggregator Total Global 14050 ACAC=1.00000 delAC=0.00000
Allele Frequency Aggregator European Sub 9690 ACAC=1.0000 delAC=0.0000
Allele Frequency Aggregator African Sub 2898 ACAC=1.0000 delAC=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator Other Sub 496 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator Asian Sub 112 ACAC=1.000 delAC=0.000
Allele Frequency Aggregator South Asian Sub 98 ACAC=1.00 delAC=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 4 NC_000004.12:g.168922160AC[1]
GRCh37.p13 chr 4 NC_000004.11:g.169843311AC[1]
PALLD RefSeqGene NG_013376.1:g.430095AC[1]
Gene: PALLD, palladin, cytoskeletal associated protein (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PALLD transcript variant 1 NM_001166108.2:c.3058+421…

NM_001166108.2:c.3058+421_3058+422del

N/A Intron Variant
PALLD transcript variant 3 NM_001166109.2:c.1861+421…

NM_001166109.2:c.1861+421_1861+422del

N/A Intron Variant
PALLD transcript variant 4 NM_001166110.2:c.1546+421…

NM_001166110.2:c.1546+421_1546+422del

N/A Intron Variant
PALLD transcript variant 5 NM_001367567.1:c.886+421_…

NM_001367567.1:c.886+421_886+422del

N/A Intron Variant
PALLD transcript variant 6 NM_001367568.1:c.937+421_…

NM_001367568.1:c.937+421_937+422del

N/A Intron Variant
PALLD transcript variant 7 NM_001367569.1:c.886+421_…

NM_001367569.1:c.886+421_886+422del

N/A Intron Variant
PALLD transcript variant 8 NM_001367570.1:c.937+421_…

NM_001367570.1:c.937+421_937+422del

N/A Intron Variant
PALLD transcript variant 2 NM_016081.4:c.3007+421_30…

NM_016081.4:c.3007+421_3007+422del

N/A Intron Variant
PALLD transcript variant X1 XM_011531768.3:c.3934+421…

XM_011531768.3:c.3934+421_3934+422del

N/A Intron Variant
PALLD transcript variant X2 XM_011531769.3:c.3883+421…

XM_011531769.3:c.3883+421_3883+422del

N/A Intron Variant
PALLD transcript variant X5 XM_011531771.3:c.3661+421…

XM_011531771.3:c.3661+421_3661+422del

N/A Intron Variant
PALLD transcript variant X6 XM_011531772.3:c.3562+421…

XM_011531772.3:c.3562+421_3562+422del

N/A Intron Variant
PALLD transcript variant X7 XM_011531773.2:c.3262+421…

XM_011531773.2:c.3262+421_3262+422del

N/A Intron Variant
PALLD transcript variant X8 XM_011531774.2:c.3211+421…

XM_011531774.2:c.3211+421_3211+422del

N/A Intron Variant
PALLD transcript variant X10 XM_011531775.2:c.2584+421…

XM_011531775.2:c.2584+421_2584+422del

N/A Intron Variant
PALLD transcript variant X11 XM_024453939.2:c.2584+421…

XM_024453939.2:c.2584+421_2584+422del

N/A Intron Variant
PALLD transcript variant X15 XM_024453940.2:c.1597+421…

XM_024453940.2:c.1597+421_1597+422del

N/A Intron Variant
PALLD transcript variant X3 XM_047449861.1:c.3934+421…

XM_047449861.1:c.3934+421_3934+422del

N/A Intron Variant
PALLD transcript variant X4 XM_047449862.1:c.3883+421…

XM_047449862.1:c.3883+421_3883+422del

N/A Intron Variant
PALLD transcript variant X9 XM_047449863.1:c.2890+421…

XM_047449863.1:c.2890+421_2890+422del

N/A Intron Variant
PALLD transcript variant X12 XM_047449864.1:c.2584+421…

XM_047449864.1:c.2584+421_2584+422del

N/A Intron Variant
PALLD transcript variant X13 XM_047449865.1:c.2533+421…

XM_047449865.1:c.2533+421_2533+422del

N/A Intron Variant
PALLD transcript variant X14 XM_047449866.1:c.1861+421…

XM_047449866.1:c.1861+421_1861+422del

N/A Intron Variant
PALLD transcript variant X16 XM_047449867.1:c.1324+421…

XM_047449867.1:c.1324+421_1324+422del

N/A Intron Variant
PALLD transcript variant X17 XM_047449868.1:c.1225+421…

XM_047449868.1:c.1225+421_1225+422del

N/A Intron Variant
PALLD transcript variant X18 XM_047449869.1:c.1324+421…

XM_047449869.1:c.1324+421_1324+422del

N/A Intron Variant
PALLD transcript variant X19 XM_047449870.1:c.886+421_…

XM_047449870.1:c.886+421_886+422del

N/A Intron Variant
Gene: CBR4, carbonyl reductase 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CBR4 transcript NM_032783.5:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X3 XM_005263315.4:c.536-2739…

XM_005263315.4:c.536-27396_536-27395del

N/A Intron Variant
CBR4 transcript variant X2 XM_017008782.2:c.566-2739…

XM_017008782.2:c.566-27396_566-27395del

N/A Intron Variant
CBR4 transcript variant X1 XM_006714391.2:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X7 XM_011532385.2:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X9 XM_011532386.3:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X4 XM_017008783.3:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X8 XM_047416331.1:c. N/A Genic Downstream Transcript Variant
CBR4 transcript variant X5 XR_001741341.2:n. N/A Intron Variant
CBR4 transcript variant X6 XR_007057980.1: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 ACAC= delAC
GRCh38.p14 chr 4 NC_000004.12:g.168922160_168922163= NC_000004.12:g.168922160AC[1]
GRCh37.p13 chr 4 NC_000004.11:g.169843311_169843314= NC_000004.11:g.169843311AC[1]
PALLD RefSeqGene NG_013376.1:g.430095_430098= NG_013376.1:g.430095AC[1]
PALLD transcript variant 1 NM_001166108.1:c.3058+419= NM_001166108.1:c.3058+421_3058+422del
PALLD transcript variant 1 NM_001166108.2:c.3058+419= NM_001166108.2:c.3058+421_3058+422del
PALLD transcript variant 3 NM_001166109.1:c.1861+419= NM_001166109.1:c.1861+421_1861+422del
PALLD transcript variant 3 NM_001166109.2:c.1861+419= NM_001166109.2:c.1861+421_1861+422del
PALLD transcript variant 4 NM_001166110.1:c.1546+419= NM_001166110.1:c.1546+421_1546+422del
PALLD transcript variant 4 NM_001166110.2:c.1546+419= NM_001166110.2:c.1546+421_1546+422del
PALLD transcript variant 5 NM_001367567.1:c.886+419= NM_001367567.1:c.886+421_886+422del
PALLD transcript variant 6 NM_001367568.1:c.937+419= NM_001367568.1:c.937+421_937+422del
PALLD transcript variant 7 NM_001367569.1:c.886+419= NM_001367569.1:c.886+421_886+422del
PALLD transcript variant 8 NM_001367570.1:c.937+419= NM_001367570.1:c.937+421_937+422del
PALLD transcript variant 2 NM_016081.3:c.3007+419= NM_016081.3:c.3007+421_3007+422del
PALLD transcript variant 2 NM_016081.4:c.3007+419= NM_016081.4:c.3007+421_3007+422del
PALLD transcript variant X1 XM_005262861.1:c.3730+419= XM_005262861.1:c.3730+421_3730+422del
PALLD transcript variant X2 XM_005262862.1:c.3679+419= XM_005262862.1:c.3679+421_3679+422del
PALLD transcript variant X3 XM_005262863.1:c.3730+419= XM_005262863.1:c.3730+421_3730+422del
PALLD transcript variant X4 XM_005262864.1:c.3457+419= XM_005262864.1:c.3457+421_3457+422del
PALLD transcript variant X5 XM_005262865.1:c.3358+419= XM_005262865.1:c.3358+421_3358+422del
PALLD transcript variant X6 XM_005262866.1:c.2584+419= XM_005262866.1:c.2584+421_2584+422del
CBR4 transcript variant X2 XM_005263315.1:c.536-27395= XM_005263315.1:c.536-27396_536-27395del
CBR4 transcript variant X3 XM_005263315.4:c.536-27395= XM_005263315.4:c.536-27396_536-27395del
PALLD transcript variant X1 XM_011531768.3:c.3934+419= XM_011531768.3:c.3934+421_3934+422del
PALLD transcript variant X2 XM_011531769.3:c.3883+419= XM_011531769.3:c.3883+421_3883+422del
PALLD transcript variant X5 XM_011531771.3:c.3661+419= XM_011531771.3:c.3661+421_3661+422del
PALLD transcript variant X6 XM_011531772.3:c.3562+419= XM_011531772.3:c.3562+421_3562+422del
PALLD transcript variant X7 XM_011531773.2:c.3262+419= XM_011531773.2:c.3262+421_3262+422del
PALLD transcript variant X8 XM_011531774.2:c.3211+419= XM_011531774.2:c.3211+421_3211+422del
PALLD transcript variant X10 XM_011531775.2:c.2584+419= XM_011531775.2:c.2584+421_2584+422del
CBR4 transcript variant X2 XM_017008782.2:c.566-27395= XM_017008782.2:c.566-27396_566-27395del
PALLD transcript variant X11 XM_024453939.2:c.2584+419= XM_024453939.2:c.2584+421_2584+422del
PALLD transcript variant X15 XM_024453940.2:c.1597+419= XM_024453940.2:c.1597+421_1597+422del
PALLD transcript variant X3 XM_047449861.1:c.3934+419= XM_047449861.1:c.3934+421_3934+422del
PALLD transcript variant X4 XM_047449862.1:c.3883+419= XM_047449862.1:c.3883+421_3883+422del
PALLD transcript variant X9 XM_047449863.1:c.2890+419= XM_047449863.1:c.2890+421_2890+422del
PALLD transcript variant X12 XM_047449864.1:c.2584+419= XM_047449864.1:c.2584+421_2584+422del
PALLD transcript variant X13 XM_047449865.1:c.2533+419= XM_047449865.1:c.2533+421_2533+422del
PALLD transcript variant X14 XM_047449866.1:c.1861+419= XM_047449866.1:c.1861+421_1861+422del
PALLD transcript variant X16 XM_047449867.1:c.1324+419= XM_047449867.1:c.1324+421_1324+422del
PALLD transcript variant X17 XM_047449868.1:c.1225+419= XM_047449868.1:c.1225+421_1225+422del
PALLD transcript variant X18 XM_047449869.1:c.1324+419= XM_047449869.1:c.1324+421_1324+422del
PALLD transcript variant X19 XM_047449870.1:c.886+419= XM_047449870.1:c.886+421_886+422del
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, 3 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss4125215406 Apr 26, 2021 (155)
2 TOPMED ss4641570824 Apr 26, 2021 (155)
3 gnomAD - Genomes NC_000004.12 - 168922160 Apr 26, 2021 (155)
4 TopMed NC_000004.12 - 168922160 Apr 26, 2021 (155)
5 ALFA NC_000004.12 - 168922160 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
173007491, 478948380, ss4125215406, ss4641570824 NC_000004.12:168922159:AC: NC_000004.12:168922159:ACAC:AC (self)
10149299764 NC_000004.12:168922159:ACAC:AC NC_000004.12:168922159:ACAC:AC (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 rs1491478556

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