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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.

rs3795322

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17826151 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.001273 (337/264690, TOPMED)
T=0.002043 (511/250078, GnomAD_exome)
T=0.001300 (296/227708, ALFA) (+ 14 more)
T=0.000663 (93/140252, GnomAD)
T=0.002371 (285/120218, ExAC)
T=0.00234 (184/78698, PAGE_STUDY)
T=0.02393 (401/16760, 8.3KJPN)
T=0.0046 (23/5008, 1000G)
T=0.0356 (104/2922, KOREAN)
T=0.0322 (59/1832, Korea1K)
T=0.0164 (26/1590, HapMap)
T=0.033 (26/790, PRJEB37584)
T=0.018 (11/608, Vietnamese)
C=0.5 (5/10, SGDP_PRJ)
T=0.5 (5/10, SGDP_PRJ)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)
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.17826151C>T
GRCh37.p13 chr 1 NC_000001.10:g.18152646C>T
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.733C>T R [CGC] > C [TGC] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Arg245Cys R (Arg) > C (Cys) Missense Variant
ACTL8 transcript variant X1 XM_011542212.2:c.733C>T R [CGC] > C [TGC] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Arg245Cys R (Arg) > C (Cys) 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 227708 C=0.998700 T=0.001300
European Sub 196206 C=0.999796 T=0.000204
African Sub 6256 C=1.0000 T=0.0000
African Others Sub 216 C=1.000 T=0.000
African American Sub 6040 C=1.0000 T=0.0000
Asian Sub 6402 C=0.9706 T=0.0294
East Asian Sub 4552 C=0.9684 T=0.0316
Other Asian Sub 1850 C=0.9762 T=0.0238
Latin American 1 Sub 806 C=1.000 T=0.000
Latin American 2 Sub 1040 C=1.0000 T=0.0000
South Asian Sub 296 C=1.000 T=0.000
Other Sub 16702 C=0.99593 T=0.00407


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 C=0.998727 T=0.001273
gnomAD - Exomes Global Study-wide 250078 C=0.997957 T=0.002043
gnomAD - Exomes European Sub 134240 C=0.999926 T=0.000074
gnomAD - Exomes Asian Sub 48978 C=0.99059 T=0.00941
gnomAD - Exomes American Sub 34568 C=0.99994 T=0.00006
gnomAD - Exomes African Sub 16114 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10070 C=0.99682 T=0.00318
gnomAD - Exomes Other Sub 6108 C=0.9992 T=0.0008
gnomAD - Genomes Global Study-wide 140252 C=0.999337 T=0.000663
gnomAD - Genomes European Sub 75946 C=0.99993 T=0.00007
gnomAD - Genomes African Sub 42036 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13664 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9952 T=0.0048
gnomAD - Genomes East Asian Sub 3132 C=0.9786 T=0.0214
gnomAD - Genomes Other Sub 2152 C=0.9981 T=0.0019
ExAC Global Study-wide 120218 C=0.997629 T=0.002371
ExAC Europe Sub 72588 C=0.99978 T=0.00022
ExAC Asian Sub 25060 C=0.98939 T=0.01061
ExAC American Sub 11540 C=0.99983 T=0.00017
ExAC African Sub 10128 C=1.00000 T=0.00000
ExAC Other Sub 902 C=0.999 T=0.001
The PAGE Study Global Study-wide 78698 C=0.99766 T=0.00234
The PAGE Study AfricanAmerican Sub 32514 C=0.99997 T=0.00003
The PAGE Study Mexican Sub 10810 C=0.99991 T=0.00009
The PAGE Study Asian Sub 8318 C=0.9815 T=0.0185
The PAGE Study PuertoRican Sub 7918 C=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4534 C=0.9954 T=0.0046
The PAGE Study Cuban Sub 4228 C=0.9995 T=0.0005
The PAGE Study Dominican Sub 3828 C=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2450 C=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 C=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 C=0.9968 T=0.0032
The PAGE Study SouthAsian Sub 856 C=0.999 T=0.001
8.3KJPN JAPANESE Study-wide 16760 C=0.97607 T=0.02393
1000Genomes Global Study-wide 5008 C=0.9954 T=0.0046
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=0.9792 T=0.0208
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=0.998 T=0.002
1000Genomes American Sub 694 C=1.000 T=0.000
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9644 T=0.0356
Korean Genome Project KOREAN Study-wide 1832 C=0.9678 T=0.0322
HapMap Global Study-wide 1590 C=0.9836 T=0.0164
HapMap American Sub 764 C=0.984 T=0.016
HapMap African Sub 406 C=0.993 T=0.007
HapMap Asian Sub 248 C=0.960 T=0.040
HapMap Europe Sub 172 C=0.994 T=0.006
CNV burdens in cranial meningiomas Global Study-wide 790 C=0.967 T=0.033
CNV burdens in cranial meningiomas CRM Sub 790 C=0.967 T=0.033
A Vietnamese Genetic Variation Database Global Study-wide 608 C=0.982 T=0.018
SGDP_PRJ Global Study-wide 10 C=0.5 T=0.5
Siberian 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= T
GRCh38.p13 chr 1 NC_000001.11:g.17826151= NC_000001.11:g.17826151C>T
GRCh37.p13 chr 1 NC_000001.10:g.18152646= NC_000001.10:g.18152646C>T
ACTL8 transcript NM_030812.3:c.733= NM_030812.3:c.733C>T
ACTL8 transcript NM_030812.2:c.733= NM_030812.2:c.733C>T
ACTL8 transcript variant X1 XM_011542212.2:c.733= XM_011542212.2:c.733C>T
actin-like protein 8 NP_110439.2:p.Arg245= NP_110439.2:p.Arg245Cys
actin-like protein 8 isoform X1 XP_011540514.1:p.Arg245= XP_011540514.1:p.Arg245Cys
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#.

68 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss4981699 Aug 28, 2002 (107)
2 PERLEGEN ss68759907 May 17, 2007 (127)
3 ILLUMINA ss74906006 Dec 07, 2007 (129)
4 ILLUMINA ss173642392 Jul 04, 2010 (132)
5 1000GENOMES ss217390917 Jul 14, 2010 (132)
6 1000GENOMES ss217392159 Jul 14, 2010 (132)
7 1000GENOMES ss217400058 Jul 14, 2010 (132)
8 1000GENOMES ss238156541 Jul 15, 2010 (132)
9 ILLUMINA ss480980312 May 04, 2012 (137)
10 ILLUMINA ss482160085 May 04, 2012 (137)
11 1000GENOMES ss489724902 May 04, 2012 (137)
12 EXOME_CHIP ss491287952 May 04, 2012 (137)
13 CLINSEQ_SNP ss491587214 May 04, 2012 (137)
14 ILLUMINA ss534061000 Sep 08, 2015 (146)
15 SSMP ss647611552 Apr 25, 2013 (138)
16 ILLUMINA ss779456953 Sep 08, 2015 (146)
17 ILLUMINA ss780806843 Sep 08, 2015 (146)
18 ILLUMINA ss781366619 Sep 08, 2015 (146)
19 ILLUMINA ss783488527 Sep 08, 2015 (146)
20 ILLUMINA ss834926629 Sep 08, 2015 (146)
21 1000GENOMES ss1289872683 Aug 21, 2014 (142)
22 EVA_EXAC ss1685351977 Apr 01, 2015 (144)
23 EVA_SVP ss1712314538 Apr 01, 2015 (144)
24 ILLUMINA ss1751884980 Sep 08, 2015 (146)
25 ILLUMINA ss1917723773 Feb 12, 2016 (147)
26 ILLUMINA ss1945986459 Feb 12, 2016 (147)
27 ILLUMINA ss1958247869 Feb 12, 2016 (147)
28 AMU ss1966653765 Feb 12, 2016 (147)
29 USC_VALOUEV ss2147570717 Dec 20, 2016 (150)
30 HUMAN_LONGEVITY ss2160392780 Dec 20, 2016 (150)
31 TOPMED ss2322573485 Dec 20, 2016 (150)
32 ILLUMINA ss2632483771 Nov 08, 2017 (151)
33 GRF ss2697474682 Nov 08, 2017 (151)
34 ILLUMINA ss2710666830 Nov 08, 2017 (151)
35 GNOMAD ss2731193794 Nov 08, 2017 (151)
36 GNOMAD ss2746240395 Nov 08, 2017 (151)
37 GNOMAD ss2752210160 Nov 08, 2017 (151)
38 AFFY ss2984847578 Nov 08, 2017 (151)
39 ILLUMINA ss3021061153 Nov 08, 2017 (151)
40 TOPMED ss3069887569 Nov 08, 2017 (151)
41 ILLUMINA ss3626037679 Oct 11, 2018 (152)
42 ILLUMINA ss3626037680 Oct 11, 2018 (152)
43 ILLUMINA ss3630521757 Oct 11, 2018 (152)
44 ILLUMINA ss3634309805 Oct 11, 2018 (152)
45 ILLUMINA ss3637740234 Oct 11, 2018 (152)
46 ILLUMINA ss3640017169 Oct 11, 2018 (152)
47 ILLUMINA ss3640975740 Oct 11, 2018 (152)
48 ILLUMINA ss3641269601 Oct 11, 2018 (152)
49 ILLUMINA ss3642753817 Oct 11, 2018 (152)
50 ILLUMINA ss3644482310 Oct 11, 2018 (152)
51 ILLUMINA ss3651385676 Oct 11, 2018 (152)
52 ILLUMINA ss3653621318 Oct 11, 2018 (152)
53 ILLUMINA ss3725001345 Jul 12, 2019 (153)
54 ILLUMINA ss3744340455 Jul 12, 2019 (153)
55 ILLUMINA ss3744610768 Jul 12, 2019 (153)
56 EVA ss3745887920 Jul 12, 2019 (153)
57 PAGE_CC ss3770789439 Jul 12, 2019 (153)
58 ILLUMINA ss3772112349 Jul 12, 2019 (153)
59 KHV_HUMAN_GENOMES ss3798909769 Jul 12, 2019 (153)
60 EVA ss3825555538 Apr 25, 2020 (154)
61 SGDP_PRJ ss3848319855 Apr 25, 2020 (154)
62 KRGDB ss3893224258 Apr 25, 2020 (154)
63 KOGIC ss3943943347 Apr 25, 2020 (154)
64 EVA ss3984452986 Apr 27, 2021 (155)
65 EVA ss4016895831 Apr 27, 2021 (155)
66 TOPMED ss4440759417 Apr 27, 2021 (155)
67 TOMMO_GENOMICS ss5142738954 Apr 27, 2021 (155)
68 EVA ss5236865373 Apr 27, 2021 (155)
69 1000Genomes NC_000001.10 - 18152646 Oct 11, 2018 (152)
70 ExAC NC_000001.10 - 18152646 Oct 11, 2018 (152)
71 gnomAD - Genomes NC_000001.11 - 17826151 Apr 27, 2021 (155)
72 gnomAD - Exomes NC_000001.10 - 18152646 Jul 12, 2019 (153)
73 HapMap NC_000001.11 - 17826151 Apr 25, 2020 (154)
74 KOREAN population from KRGDB NC_000001.10 - 18152646 Apr 25, 2020 (154)
75 Korean Genome Project NC_000001.11 - 17826151 Apr 25, 2020 (154)
76 The PAGE Study NC_000001.11 - 17826151 Jul 12, 2019 (153)
77 CNV burdens in cranial meningiomas NC_000001.10 - 18152646 Apr 27, 2021 (155)
78 SGDP_PRJ NC_000001.10 - 18152646 Apr 25, 2020 (154)
79 Siberian NC_000001.10 - 18152646 Apr 25, 2020 (154)
80 8.3KJPN NC_000001.10 - 18152646 Apr 27, 2021 (155)
81 TopMed NC_000001.11 - 17826151 Apr 27, 2021 (155)
82 A Vietnamese Genetic Variation Database NC_000001.10 - 18152646 Jul 12, 2019 (153)
83 ALFA NC_000001.11 - 17826151 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
ss217390917, ss217392159, ss217400058, ss482160085, ss491587214, ss1712314538, ss3642753817 NC_000001.9:18025232:C:T NC_000001.11:17826150:C:T (self)
555329, 4534598, 206393, 401652, 2288, 336835, 87071, 708261, 61362, ss238156541, ss480980312, ss489724902, ss491287952, ss534061000, ss647611552, ss779456953, ss780806843, ss781366619, ss783488527, ss834926629, ss1289872683, ss1685351977, ss1751884980, ss1917723773, ss1945986459, ss1958247869, ss1966653765, ss2147570717, ss2322573485, ss2632483771, ss2697474682, ss2710666830, ss2731193794, ss2746240395, ss2752210160, ss2984847578, ss3021061153, ss3626037679, ss3626037680, ss3630521757, ss3634309805, ss3637740234, ss3640017169, ss3640975740, ss3641269601, ss3644482310, ss3651385676, ss3653621318, ss3744340455, ss3744610768, ss3745887920, ss3772112349, ss3825555538, ss3848319855, ss3893224258, ss3984452986, ss4016895831, ss5142738954 NC_000001.10:18152645:C:T NC_000001.11:17826150:C:T (self)
3885316, 21763, 321348, 10908, 2741045, 4365752, 3698414342, ss2160392780, ss3069887569, ss3725001345, ss3770789439, ss3798909769, ss3943943347, ss4440759417, ss5236865373 NC_000001.11:17826150:C:T NC_000001.11:17826150:C:T (self)
ss4981699, ss68759907, ss74906006, ss173642392 NT_004610.19:4832733:C:T NC_000001.11:17826150: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 rs3795322

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