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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.

rs115824043

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17823340 (GRCh38.p13) 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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.000004 (1/264690, TOPMED)
A=0.000044 (11/249196, GnomAD_exome)
A=0.000051 (6/117948, ExAC) (+ 3 more)
A=0.00072 (12/16760, 8.3KJPN)
A=0.00000 (0/10680, ALFA)
A=0.0000 (0/2922, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACTL8 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.17823340G>A
GRCh37.p13 chr 1 NC_000001.10:g.18149835G>A
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.332G>A R [CGA] > Q [CAA] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Arg111Gln R (Arg) > Q (Gln) Missense Variant
ACTL8 transcript variant X1 XM_011542212.2:c.332G>A R [CGA] > Q [CAA] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Arg111Gln R (Arg) > Q (Gln) Missense 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 10680 G=1.00000 A=0.00000
European Sub 6962 G=1.0000 A=0.0000
African Sub 2294 G=1.0000 A=0.0000
African Others Sub 84 G=1.00 A=0.00
African American Sub 2210 G=1.0000 A=0.0000
Asian Sub 108 G=1.000 A=0.000
East Asian Sub 84 G=1.00 A=0.00
Other Asian Sub 24 G=1.00 A=0.00
Latin American 1 Sub 146 G=1.000 A=0.000
Latin American 2 Sub 610 G=1.000 A=0.000
South Asian Sub 94 G=1.00 A=0.00
Other Sub 466 G=1.000 A=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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.999996 A=0.000004
gnomAD - Exomes Global Study-wide 249196 G=0.999956 A=0.000044
gnomAD - Exomes European Sub 133712 G=0.999993 A=0.000007
gnomAD - Exomes Asian Sub 48892 G=0.99982 A=0.00018
gnomAD - Exomes American Sub 34494 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16104 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 9914 G=1.0000 A=0.0000
gnomAD - Exomes Other Sub 6080 G=0.9998 A=0.0002
ExAC Global Study-wide 117948 G=0.999949 A=0.000051
ExAC Europe Sub 71500 G=0.99999 A=0.00001
ExAC Asian Sub 24040 G=0.99979 A=0.00021
ExAC American Sub 11510 G=1.00000 A=0.00000
ExAC African Sub 10018 G=1.00000 A=0.00000
ExAC Other Sub 880 G=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.99928 A=0.00072
KOREAN population from KRGDB KOREAN Study-wide 2922 G=1.0000 A=0.0000
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= A
GRCh38.p13 chr 1 NC_000001.11:g.17823340= NC_000001.11:g.17823340G>A
GRCh37.p13 chr 1 NC_000001.10:g.18149835= NC_000001.10:g.18149835G>A
ACTL8 transcript NM_030812.3:c.332= NM_030812.3:c.332G>A
ACTL8 transcript NM_030812.2:c.332= NM_030812.2:c.332G>A
ACTL8 transcript variant X1 XM_011542212.2:c.332= XM_011542212.2:c.332G>A
actin-like protein 8 NP_110439.2:p.Arg111= NP_110439.2:p.Arg111Gln
actin-like protein 8 isoform X1 XP_011540514.1:p.Arg111= XP_011540514.1:p.Arg111Gln
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, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217400047 Jul 14, 2010 (132)
2 1000GENOMES ss488655044 May 04, 2012 (137)
3 EVA_EXAC ss1685351859 Apr 01, 2015 (144)
4 HUMAN_LONGEVITY ss2160392609 Dec 20, 2016 (150)
5 GNOMAD ss2731193643 Nov 08, 2017 (151)
6 KRGDB ss3893224218 Apr 25, 2020 (154)
7 TOPMED ss4440758672 Apr 27, 2021 (155)
8 TOMMO_GENOMICS ss5142738869 Apr 27, 2021 (155)
9 ExAC NC_000001.10 - 18149835 Oct 11, 2018 (152)
10 gnomAD - Exomes NC_000001.10 - 18149835 Jul 12, 2019 (153)
11 KOREAN population from KRGDB NC_000001.10 - 18149835 Apr 25, 2020 (154)
12 8.3KJPN NC_000001.10 - 18149835 Apr 27, 2021 (155)
13 TopMed NC_000001.11 - 17823340 Apr 27, 2021 (155)
14 ALFA NC_000001.11 - 17823340 Apr 27, 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
ss217400047 NC_000001.9:18022421:G:A NC_000001.11:17823339:G:A (self)
4534475, 206228, 401612, 708176, ss488655044, ss1685351859, ss2731193643, ss3893224218, ss5142738869 NC_000001.10:18149834:G:A NC_000001.11:17823339:G:A (self)
4365007, 12652328365, ss2160392609, ss4440758672 NC_000001.11:17823339:G:A NC_000001.11:17823339:G:A (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 rs115824043

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.post596+ae089ad