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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.

rs12408385

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17823098 (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=0.002765 (732/264690, TOPMED)
A=0.005508 (1385/251440, GnomAD_exome)
A=0.002310 (324/140266, GnomAD) (+ 18 more)
A=0.004853 (589/121362, ExAC)
A=0.00236 (174/73876, ALFA)
A=0.02446 (410/16760, 8.3KJPN)
A=0.00077 (10/13006, GO-ESP)
A=0.0040 (20/5008, 1000G)
A=0.0063 (28/4480, Estonian)
A=0.0005 (2/3854, ALSPAC)
A=0.0003 (1/3708, TWINSUK)
A=0.0308 (90/2922, KOREAN)
A=0.0295 (54/1832, Korea1K)
A=0.001 (1/998, GoNL)
A=0.018 (11/610, Vietnamese)
A=0.003 (2/600, NorthernSweden)
A=0.002 (1/534, MGP)
A=0.009 (3/330, HapMap)
A=0.013 (4/304, FINRISK)
G=0.5 (5/10, SGDP_PRJ)
A=0.5 (5/10, 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.17823098G>A
GRCh37.p13 chr 1 NC_000001.10:g.18149593G>A
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.90G>A P [CCG] > P [CCA] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Pro30= P (Pro) > P (Pro) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.90G>A P [CCG] > P [CCA] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Pro30= P (Pro) > P (Pro) 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 73876 G=0.99764 A=0.00236
European Sub 51906 G=0.99894 A=0.00106
African Sub 5576 G=0.9987 A=0.0013
African Others Sub 188 G=1.000 A=0.000
African American Sub 5388 G=0.9987 A=0.0013
Asian Sub 498 G=0.978 A=0.022
East Asian Sub 400 G=0.980 A=0.020
Other Asian Sub 98 G=0.97 A=0.03
Latin American 1 Sub 936 G=0.999 A=0.001
Latin American 2 Sub 4926 G=0.9840 A=0.0160
South Asian Sub 162 G=1.000 A=0.000
Other Sub 9872 G=0.9979 A=0.0021


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 G=0.997235 A=0.002765
gnomAD - Exomes Global Study-wide 251440 G=0.994492 A=0.005508
gnomAD - Exomes European Sub 135368 G=0.997739 A=0.002261
gnomAD - Exomes Asian Sub 49008 G=0.99337 A=0.00663
gnomAD - Exomes American Sub 34592 G=0.97953 A=0.02047
gnomAD - Exomes African Sub 16256 G=0.99859 A=0.00141
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6136 G=0.9963 A=0.0037
gnomAD - Genomes Global Study-wide 140266 G=0.997690 A=0.002310
gnomAD - Genomes European Sub 75958 G=0.99778 A=0.00222
gnomAD - Genomes African Sub 42040 G=0.99912 A=0.00088
gnomAD - Genomes American Sub 13656 G=0.99443 A=0.00557
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=0.9876 A=0.0124
gnomAD - Genomes Other Sub 2154 G=0.9986 A=0.0014
ExAC Global Study-wide 121362 G=0.995147 A=0.004853
ExAC Europe Sub 73318 G=0.99823 A=0.00177
ExAC Asian Sub 25160 G=0.99293 A=0.00707
ExAC American Sub 11576 G=0.97719 A=0.02281
ExAC African Sub 10402 G=0.99865 A=0.00135
ExAC Other Sub 906 G=0.997 A=0.003
Allele Frequency Aggregator Total Global 73876 G=0.99764 A=0.00236
Allele Frequency Aggregator European Sub 51906 G=0.99894 A=0.00106
Allele Frequency Aggregator Other Sub 9872 G=0.9979 A=0.0021
Allele Frequency Aggregator African Sub 5576 G=0.9987 A=0.0013
Allele Frequency Aggregator Latin American 2 Sub 4926 G=0.9840 A=0.0160
Allele Frequency Aggregator Latin American 1 Sub 936 G=0.999 A=0.001
Allele Frequency Aggregator Asian Sub 498 G=0.978 A=0.022
Allele Frequency Aggregator South Asian Sub 162 G=1.000 A=0.000
8.3KJPN JAPANESE Study-wide 16760 G=0.97554 A=0.02446
GO Exome Sequencing Project Global Study-wide 13006 G=0.99923 A=0.00077
GO Exome Sequencing Project European American Sub 8600 G=0.9994 A=0.0006
GO Exome Sequencing Project African American Sub 4406 G=0.9989 A=0.0011
1000Genomes Global Study-wide 5008 G=0.9960 A=0.0040
1000Genomes African Sub 1322 G=0.9992 A=0.0008
1000Genomes East Asian Sub 1008 G=0.9841 A=0.0159
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.996 A=0.004
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9938 A=0.0063
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9995 A=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9997 A=0.0003
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9692 A=0.0308
Korean Genome Project KOREAN Study-wide 1832 G=0.9705 A=0.0295
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.999 A=0.001
A Vietnamese Genetic Variation Database Global Study-wide 610 G=0.982 A=0.018
Northern Sweden ACPOP Study-wide 600 G=0.997 A=0.003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 A=0.002
HapMap Global Study-wide 330 G=0.991 A=0.009
HapMap African Sub 120 G=1.000 A=0.000
HapMap American Sub 120 G=1.000 A=0.000
HapMap Asian Sub 90 G=0.97 A=0.03
FINRISK Finnish from FINRISK project Study-wide 304 G=0.987 A=0.013
SGDP_PRJ Global Study-wide 10 G=0.5 A=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 G= A
GRCh38.p13 chr 1 NC_000001.11:g.17823098= NC_000001.11:g.17823098G>A
GRCh37.p13 chr 1 NC_000001.10:g.18149593= NC_000001.10:g.18149593G>A
ACTL8 transcript NM_030812.3:c.90= NM_030812.3:c.90G>A
ACTL8 transcript NM_030812.2:c.90= NM_030812.2:c.90G>A
ACTL8 transcript variant X1 XM_011542212.2:c.90= XM_011542212.2:c.90G>A
actin-like protein 8 NP_110439.2:p.Pro30= NP_110439.2:p.Pro30=
actin-like protein 8 isoform X1 XP_011540514.1:p.Pro30= XP_011540514.1:p.Pro30=
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#.

44 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss19137765 Feb 28, 2004 (120)
2 ABI ss43973189 Mar 13, 2006 (126)
3 SEATTLESEQ ss159696420 Dec 01, 2009 (131)
4 ILLUMINA ss160055643 Dec 01, 2009 (131)
5 ENSEMBL ss161194823 Dec 01, 2009 (131)
6 1000GENOMES ss217390908 Jul 14, 2010 (132)
7 1000GENOMES ss217392150 Jul 14, 2010 (132)
8 1000GENOMES ss217400041 Jul 14, 2010 (132)
9 1000GENOMES ss238156533 Jul 15, 2010 (132)
10 GMI ss275736676 May 04, 2012 (137)
11 NHLBI-ESP ss341939367 May 09, 2011 (134)
12 ILLUMINA ss480287987 Sep 08, 2015 (146)
13 1000GENOMES ss489724885 May 04, 2012 (137)
14 ILLUMINA ss533935128 Sep 08, 2015 (146)
15 EVA-GONL ss974903809 Aug 21, 2014 (142)
16 1000GENOMES ss1289872600 Aug 21, 2014 (142)
17 EVA_FINRISK ss1584005297 Apr 01, 2015 (144)
18 EVA_UK10K_ALSPAC ss1599639506 Apr 01, 2015 (144)
19 EVA_UK10K_TWINSUK ss1642633539 Apr 01, 2015 (144)
20 EVA_EXAC ss1685351817 Apr 01, 2015 (144)
21 EVA_MGP ss1710892625 Apr 01, 2015 (144)
22 GENOMED ss1966695388 Jul 19, 2016 (147)
23 HUMAN_LONGEVITY ss2160392589 Dec 20, 2016 (150)
24 TOPMED ss2322573273 Dec 20, 2016 (150)
25 GRF ss2697474668 Nov 08, 2017 (151)
26 GNOMAD ss2731193577 Nov 08, 2017 (151)
27 GNOMAD ss2746240323 Nov 08, 2017 (151)
28 GNOMAD ss2752209885 Nov 08, 2017 (151)
29 SWEGEN ss2986399138 Nov 08, 2017 (151)
30 TOPMED ss3069887009 Nov 08, 2017 (151)
31 ILLUMINA ss3626037664 Oct 11, 2018 (152)
32 ILLUMINA ss3635986075 Oct 11, 2018 (152)
33 EGCUT_WGS ss3654467824 Jul 12, 2019 (153)
34 ACPOP ss3726832996 Jul 12, 2019 (153)
35 EVA ss3745887887 Jul 12, 2019 (153)
36 KHV_HUMAN_GENOMES ss3798909739 Jul 12, 2019 (153)
37 EVA ss3823569285 Apr 25, 2020 (154)
38 SGDP_PRJ ss3848319816 Apr 25, 2020 (154)
39 KRGDB ss3893224214 Apr 25, 2020 (154)
40 KOGIC ss3943943296 Apr 25, 2020 (154)
41 EVA ss3986103759 Apr 27, 2021 (155)
42 TOPMED ss4440758599 Apr 27, 2021 (155)
43 TOMMO_GENOMICS ss5142738862 Apr 27, 2021 (155)
44 EVA ss5236865369 Apr 27, 2021 (155)
45 1000Genomes NC_000001.10 - 18149593 Oct 11, 2018 (152)
46 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18149593 Oct 11, 2018 (152)
47 Genetic variation in the Estonian population NC_000001.10 - 18149593 Oct 11, 2018 (152)
48 ExAC NC_000001.10 - 18149593 Oct 11, 2018 (152)
49 FINRISK NC_000001.10 - 18149593 Apr 25, 2020 (154)
50 gnomAD - Genomes NC_000001.11 - 17823098 Apr 27, 2021 (155)
51 gnomAD - Exomes NC_000001.10 - 18149593 Jul 12, 2019 (153)
52 GO Exome Sequencing Project NC_000001.10 - 18149593 Oct 11, 2018 (152)
53 Genome of the Netherlands Release 5 NC_000001.10 - 18149593 Apr 25, 2020 (154)
54 HapMap NC_000001.11 - 17823098 Apr 25, 2020 (154)
55 KOREAN population from KRGDB NC_000001.10 - 18149593 Apr 25, 2020 (154)
56 Korean Genome Project NC_000001.11 - 17823098 Apr 25, 2020 (154)
57 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 18149593 Apr 25, 2020 (154)
58 Northern Sweden NC_000001.10 - 18149593 Jul 12, 2019 (153)
59 SGDP_PRJ NC_000001.10 - 18149593 Apr 25, 2020 (154)
60 8.3KJPN NC_000001.10 - 18149593 Apr 27, 2021 (155)
61 TopMed NC_000001.11 - 17823098 Apr 27, 2021 (155)
62 UK 10K study - Twins NC_000001.10 - 18149593 Oct 11, 2018 (152)
63 A Vietnamese Genetic Variation Database NC_000001.10 - 18149593 Jul 12, 2019 (153)
64 ALFA NC_000001.11 - 17823098 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
ss217390908, ss217392150, ss217400041, ss275736676 NC_000001.9:18022179:G:A NC_000001.11:17823097:G:A (self)
555240, 287514, 206072, 4534431, 1758, 206145, 28003, 125558, 401608, 9377, 117861, 336796, 708169, 287514, 61349, ss238156533, ss341939367, ss480287987, ss489724885, ss533935128, ss974903809, ss1289872600, ss1584005297, ss1599639506, ss1642633539, ss1685351817, ss1710892625, ss1966695388, ss2322573273, ss2697474668, ss2731193577, ss2746240323, ss2752209885, ss2986399138, ss3626037664, ss3635986075, ss3654467824, ss3726832996, ss3745887887, ss3823569285, ss3848319816, ss3893224214, ss3986103759, ss5142738862 NC_000001.10:18149592:G:A NC_000001.11:17823097:G:A (self)
3884677, 21755, 321297, 2740547, 4364934, 1984297097, ss2160392589, ss3069887009, ss3798909739, ss3943943296, ss4440758599, ss5236865369 NC_000001.11:17823097:G:A NC_000001.11:17823097:G:A (self)
ss43973189, ss159696420, ss160055643, ss161194823 NT_004610.19:4829680:G:A NC_000001.11:17823097:G:A (self)
ss19137765 NT_030584.10:973934:G:A NC_000001.11:17823097: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 rs12408385

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