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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.

rs116433945

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17823068 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000306 (77/251378, GnomAD_exome)
T=0.000064 (9/140252, GnomAD)
T=0.000363 (44/121250, ExAC) (+ 11 more)
T=0.01516 (254/16760, 8.3KJPN)
A=0.00000 (0/14420, ALFA)
T=0.00000 (0/14420, ALFA)
T=0.00015 (2/13006, GO-ESP)
T=0.0006 (3/5008, 1000G)
T=0.0003 (1/3854, ALSPAC)
T=0.0008 (3/3708, TWINSUK)
T=0.0130 (38/2922, KOREAN)
T=0.0098 (18/1832, Korea1K)
C=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACTL8 : Synonymous 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.17823068C>A
GRCh38.p13 chr 1 NC_000001.11:g.17823068C>T
GRCh37.p13 chr 1 NC_000001.10:g.18149563C>A
GRCh37.p13 chr 1 NC_000001.10:g.18149563C>T
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.60C>A A [GCC] > A [GCA] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Ala20= A (Ala) > A (Ala) Synonymous Variant
ACTL8 transcript NM_030812.3:c.60C>T A [GCC] > A [GCT] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Ala20= A (Ala) > A (Ala) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.60C>A A [GCC] > A [GCA] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Ala20= A (Ala) > A (Ala) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.60C>T A [GCC] > A [GCT] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Ala20= A (Ala) > A (Ala) Synonymous 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 14420 C=1.00000 A=0.00000, T=0.00000
European Sub 9824 C=1.0000 A=0.0000, T=0.0000
African Sub 2946 C=1.0000 A=0.0000, T=0.0000
African Others Sub 114 C=1.000 A=0.000, T=0.000
African American Sub 2832 C=1.0000 A=0.0000, T=0.0000
Asian Sub 112 C=1.000 A=0.000, T=0.000
East Asian Sub 86 C=1.00 A=0.00, T=0.00
Other Asian Sub 26 C=1.00 A=0.00, T=0.00
Latin American 1 Sub 146 C=1.000 A=0.000, T=0.000
Latin American 2 Sub 610 C=1.000 A=0.000, T=0.000
South Asian Sub 98 C=1.00 A=0.00, T=0.00
Other Sub 684 C=1.000 A=0.000, T=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 - Exomes Global Study-wide 251378 C=0.999694 T=0.000306
gnomAD - Exomes European Sub 135320 C=0.999919 T=0.000081
gnomAD - Exomes Asian Sub 49010 C=0.99867 T=0.00133
gnomAD - Exomes American Sub 34590 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16252 C=1.00000 T=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10076 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6130 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140252 C=0.999936 T=0.000064
gnomAD - Genomes European Sub 75942 C=0.99997 T=0.00003
gnomAD - Genomes African Sub 42050 C=1.00000 T=0.00000
gnomAD - Genomes American Sub 13652 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=0.9981 T=0.0019
gnomAD - Genomes Other Sub 2152 C=0.9995 T=0.0005
ExAC Global Study-wide 121250 C=0.999637 T=0.000363
ExAC Europe Sub 73236 C=0.99992 T=0.00008
ExAC Asian Sub 25158 C=0.99853 T=0.00147
ExAC American Sub 11562 C=0.99991 T=0.00009
ExAC African Sub 10388 C=1.00000 T=0.00000
ExAC Other Sub 906 C=1.000 T=0.000
8.3KJPN JAPANESE Study-wide 16760 C=0.98484 T=0.01516
GO Exome Sequencing Project Global Study-wide 13006 C=0.99985 T=0.00015
GO Exome Sequencing Project European American Sub 8600 C=0.9998 T=0.0002
GO Exome Sequencing Project African American Sub 4406 C=1.0000 T=0.0000
1000Genomes Global Study-wide 5008 C=0.9994 T=0.0006
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9980 T=0.0020
1000Genomes Europe Sub 1006 C=0.9990 T=0.0010
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=1.000 T=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9997 T=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9992 T=0.0008
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9870 T=0.0130
Korean Genome Project KOREAN Study-wide 1832 C=0.9902 T=0.0098
SGDP_PRJ Global Study-wide 2 C=0.5 T=0.5
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 C= A T
GRCh38.p13 chr 1 NC_000001.11:g.17823068= NC_000001.11:g.17823068C>A NC_000001.11:g.17823068C>T
GRCh37.p13 chr 1 NC_000001.10:g.18149563= NC_000001.10:g.18149563C>A NC_000001.10:g.18149563C>T
ACTL8 transcript NM_030812.3:c.60= NM_030812.3:c.60C>A NM_030812.3:c.60C>T
ACTL8 transcript NM_030812.2:c.60= NM_030812.2:c.60C>A NM_030812.2:c.60C>T
ACTL8 transcript variant X1 XM_011542212.2:c.60= XM_011542212.2:c.60C>A XM_011542212.2:c.60C>T
actin-like protein 8 NP_110439.2:p.Ala20= NP_110439.2:p.Ala20= NP_110439.2:p.Ala20=
actin-like protein 8 isoform X1 XP_011540514.1:p.Ala20= XP_011540514.1:p.Ala20= XP_011540514.1:p.Ala20=
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#.

25 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss217314450 Jul 14, 2010 (132)
2 1000GENOMES ss217400029 Jul 14, 2010 (132)
3 1000GENOMES ss488655038 May 04, 2012 (137)
4 NHLBI-ESP ss712280739 Apr 25, 2013 (138)
5 JMKIDD_LAB ss1067417168 Aug 21, 2014 (142)
6 JMKIDD_LAB ss1067703836 Aug 21, 2014 (142)
7 1000GENOMES ss1289872598 Aug 21, 2014 (142)
8 EVA_UK10K_ALSPAC ss1599639503 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1642633536 Apr 01, 2015 (144)
10 EVA_EXAC ss1685351812 Apr 01, 2015 (144)
11 HUMAN_LONGEVITY ss2160392587 Dec 20, 2016 (150)
12 GRF ss2697474666 Nov 08, 2017 (151)
13 GNOMAD ss2731193570 Nov 08, 2017 (151)
14 GNOMAD ss2746240320 Nov 08, 2017 (151)
15 GNOMAD ss2752209882 Nov 08, 2017 (151)
16 TOPMED ss3069887001 Nov 08, 2017 (151)
17 EVA ss3745887885 Jul 12, 2019 (153)
18 EVA ss3823569280 Apr 25, 2020 (154)
19 SGDP_PRJ ss3848319814 Apr 25, 2020 (154)
20 KRGDB ss3893224211 Apr 25, 2020 (154)
21 KOGIC ss3943943294 Apr 25, 2020 (154)
22 TOPMED ss4440758589 Apr 27, 2021 (155)
23 TOPMED ss4440758590 Apr 27, 2021 (155)
24 TOMMO_GENOMICS ss5142738859 Apr 27, 2021 (155)
25 EVA ss5236865367 Apr 27, 2021 (155)
26 1000Genomes NC_000001.10 - 18149563 Oct 11, 2018 (152)
27 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18149563 Oct 11, 2018 (152)
28 ExAC NC_000001.10 - 18149563 Oct 11, 2018 (152)
29 gnomAD - Genomes NC_000001.11 - 17823068 Apr 27, 2021 (155)
30 gnomAD - Exomes NC_000001.10 - 18149563 Jul 12, 2019 (153)
31 GO Exome Sequencing Project NC_000001.10 - 18149563 Oct 11, 2018 (152)
32 KOREAN population from KRGDB NC_000001.10 - 18149563 Apr 25, 2020 (154)
33 Korean Genome Project NC_000001.11 - 17823068 Apr 25, 2020 (154)
34 SGDP_PRJ NC_000001.10 - 18149563 Apr 25, 2020 (154)
35 8.3KJPN NC_000001.10 - 18149563 Apr 27, 2021 (155)
36 TopMed

Submission ignored due to conflicting rows:
Row 4364924 (NC_000001.11:17823067:C:A 1/264690)
Row 4364925 (NC_000001.11:17823067:C:T 23/264690)

- Apr 27, 2021 (155)
37 TopMed

Submission ignored due to conflicting rows:
Row 4364924 (NC_000001.11:17823067:C:A 1/264690)
Row 4364925 (NC_000001.11:17823067:C:T 23/264690)

- Apr 27, 2021 (155)
38 UK 10K study - Twins NC_000001.10 - 18149563 Oct 11, 2018 (152)
39 ALFA NC_000001.11 - 17823068 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
3041973403, ss4440758589 NC_000001.11:17823067:C:A NC_000001.11:17823067:C:A
ss217314450, ss217400029 NC_000001.9:18022149:C:T NC_000001.11:17823067:C:T (self)
555238, 287511, 4534426, 206136, 27998, 401605, 336794, 708166, 287511, ss488655038, ss712280739, ss1067417168, ss1067703836, ss1289872598, ss1599639503, ss1642633536, ss1685351812, ss2697474666, ss2731193570, ss2746240320, ss2752209882, ss3745887885, ss3823569280, ss3848319814, ss3893224211, ss5142738859 NC_000001.10:18149562:C:T NC_000001.11:17823067:C:T (self)
3884664, 321295, 2740540, 3041973403, ss2160392587, ss3069887001, ss3943943294, ss4440758590, ss5236865367 NC_000001.11:17823067:C:T NC_000001.11:17823067:C:T (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 rs116433945

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