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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.

rs61748634

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17823171 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.002622 (694/264690, TOPMED)
G=0.003074 (773/251478, GnomAD_exome)
G=0.003017 (664/220092, ALFA) (+ 14 more)
G=0.002724 (382/140258, GnomAD)
G=0.002916 (354/121380, ExAC)
G=0.00197 (155/78692, PAGE_STUDY)
G=0.00254 (33/13006, GO-ESP)
G=0.0032 (16/5008, 1000G)
G=0.0033 (15/4480, Estonian)
G=0.0039 (15/3854, ALSPAC)
G=0.0030 (11/3708, TWINSUK)
G=0.001 (1/998, GoNL)
G=0.018 (11/600, NorthernSweden)
G=0.003 (1/304, FINRISK)
G=0.05 (2/40, GENOME_DK)
A=0.5 (2/4, SGDP_PRJ)
G=0.5 (2/4, SGDP_PRJ)
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.17823171A>G
GRCh37.p13 chr 1 NC_000001.10:g.18149666A>G
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.163A>G I [ATC] > V [GTC] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Ile55Val I (Ile) > V (Val) Missense Variant
ACTL8 transcript variant X1 XM_011542212.2:c.163A>G I [ATC] > V [GTC] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Ile55Val I (Ile) > V (Val) 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 220092 A=0.996983 G=0.003017
European Sub 190472 A=0.996803 G=0.003197
African Sub 4954 A=0.9992 G=0.0008
African Others Sub 176 A=1.000 G=0.000
African American Sub 4778 A=0.9992 G=0.0008
Asian Sub 6394 A=1.0000 G=0.0000
East Asian Sub 4546 A=1.0000 G=0.0000
Other Asian Sub 1848 A=1.0000 G=0.0000
Latin American 1 Sub 796 A=0.999 G=0.001
Latin American 2 Sub 968 A=0.988 G=0.012
South Asian Sub 280 A=1.000 G=0.000
Other Sub 16228 A=0.99766 G=0.00234


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 A=0.997378 G=0.002622
gnomAD - Exomes Global Study-wide 251478 A=0.996926 G=0.003074
gnomAD - Exomes European Sub 135406 A=0.996802 G=0.003198
gnomAD - Exomes Asian Sub 49010 A=0.99961 G=0.00039
gnomAD - Exomes American Sub 34590 A=0.99170 G=0.00830
gnomAD - Exomes African Sub 16254 A=0.99938 G=0.00062
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=0.99940 G=0.00060
gnomAD - Exomes Other Sub 6138 A=0.9971 G=0.0029
gnomAD - Genomes Global Study-wide 140258 A=0.997276 G=0.002724
gnomAD - Genomes European Sub 75958 A=0.99663 G=0.00337
gnomAD - Genomes African Sub 42038 A=0.99948 G=0.00052
gnomAD - Genomes American Sub 13660 A=0.99312 G=0.00688
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9991 G=0.0009
gnomAD - Genomes East Asian Sub 3132 A=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2146 A=0.9967 G=0.0033
ExAC Global Study-wide 121380 A=0.997084 G=0.002916
ExAC Europe Sub 73328 A=0.99674 G=0.00326
ExAC Asian Sub 25162 A=0.99968 G=0.00032
ExAC American Sub 11578 A=0.99145 G=0.00855
ExAC African Sub 10404 A=0.99923 G=0.00077
ExAC Other Sub 908 A=1.000 G=0.000
The PAGE Study Global Study-wide 78692 A=0.99803 G=0.00197
The PAGE Study AfricanAmerican Sub 32510 A=0.99978 G=0.00022
The PAGE Study Mexican Sub 10810 A=0.99306 G=0.00694
The PAGE Study Asian Sub 8316 A=1.0000 G=0.0000
The PAGE Study PuertoRican Sub 7918 A=0.9995 G=0.0005
The PAGE Study NativeHawaiian Sub 4534 A=0.9987 G=0.0013
The PAGE Study Cuban Sub 4228 A=0.9974 G=0.0026
The PAGE Study Dominican Sub 3828 A=0.9984 G=0.0016
The PAGE Study CentralAmerican Sub 2450 A=0.9935 G=0.0065
The PAGE Study SouthAmerican Sub 1982 A=0.9864 G=0.0136
The PAGE Study NativeAmerican Sub 1260 A=0.9976 G=0.0024
The PAGE Study SouthAsian Sub 856 A=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13006 A=0.99746 G=0.00254
GO Exome Sequencing Project European American Sub 8600 A=0.9964 G=0.0036
GO Exome Sequencing Project African American Sub 4406 A=0.9995 G=0.0005
1000Genomes Global Study-wide 5008 A=0.9968 G=0.0032
1000Genomes African Sub 1322 A=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 A=1.0000 G=0.0000
1000Genomes Europe Sub 1006 A=0.9960 G=0.0040
1000Genomes South Asian Sub 978 A=1.000 G=0.000
1000Genomes American Sub 694 A=0.983 G=0.017
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.9967 G=0.0033
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.9961 G=0.0039
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.9970 G=0.0030
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.999 G=0.001
Northern Sweden ACPOP Study-wide 600 A=0.982 G=0.018
FINRISK Finnish from FINRISK project Study-wide 304 A=0.997 G=0.003
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
SGDP_PRJ Global Study-wide 4 A=0.5 G=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 A= G
GRCh38.p13 chr 1 NC_000001.11:g.17823171= NC_000001.11:g.17823171A>G
GRCh37.p13 chr 1 NC_000001.10:g.18149666= NC_000001.10:g.18149666A>G
ACTL8 transcript NM_030812.3:c.163= NM_030812.3:c.163A>G
ACTL8 transcript NM_030812.2:c.163= NM_030812.2:c.163A>G
ACTL8 transcript variant X1 XM_011542212.2:c.163= XM_011542212.2:c.163A>G
actin-like protein 8 NP_110439.2:p.Ile55= NP_110439.2:p.Ile55Val
actin-like protein 8 isoform X1 XP_011540514.1:p.Ile55= XP_011540514.1:p.Ile55Val
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#.

50 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 CORNELL ss86266345 Mar 23, 2008 (129)
2 1000GENOMES ss217314461 Jul 14, 2010 (132)
3 1000GENOMES ss328449523 May 09, 2011 (134)
4 NHLBI-ESP ss341939372 May 09, 2011 (134)
5 1000GENOMES ss489724891 May 04, 2012 (137)
6 EXOME_CHIP ss491287947 May 04, 2012 (137)
7 CLINSEQ_SNP ss491587204 May 04, 2012 (137)
8 ILLUMINA ss780806818 Sep 08, 2015 (146)
9 ILLUMINA ss783488502 Sep 08, 2015 (146)
10 EVA-GONL ss974903811 Aug 21, 2014 (142)
11 1000GENOMES ss1289872605 Aug 21, 2014 (142)
12 EVA_GENOME_DK ss1573915280 Apr 01, 2015 (144)
13 EVA_FINRISK ss1584005298 Apr 01, 2015 (144)
14 EVA_DECODE ss1584261093 Apr 01, 2015 (144)
15 EVA_UK10K_ALSPAC ss1599639509 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1642633542 Apr 01, 2015 (144)
17 EVA_EXAC ss1685351829 Apr 01, 2015 (144)
18 ILLUMINA ss1751884962 Sep 08, 2015 (146)
19 ILLUMINA ss1917723768 Feb 12, 2016 (147)
20 ILLUMINA ss1945986454 Feb 12, 2016 (147)
21 ILLUMINA ss1958247861 Feb 12, 2016 (147)
22 HUMAN_LONGEVITY ss2160392596 Dec 20, 2016 (150)
23 TOPMED ss2322573281 Dec 20, 2016 (150)
24 ILLUMINA ss2710666826 Nov 08, 2017 (151)
25 GNOMAD ss2731193595 Nov 08, 2017 (151)
26 GNOMAD ss2746240330 Nov 08, 2017 (151)
27 GNOMAD ss2752209892 Nov 08, 2017 (151)
28 AFFY ss2984847571 Nov 08, 2017 (151)
29 SWEGEN ss2986399140 Nov 08, 2017 (151)
30 ILLUMINA ss3021061146 Nov 08, 2017 (151)
31 TOPMED ss3069887024 Nov 08, 2017 (151)
32 ILLUMINA ss3626037667 Oct 11, 2018 (152)
33 ILLUMINA ss3634309798 Oct 11, 2018 (152)
34 ILLUMINA ss3640017162 Oct 11, 2018 (152)
35 ILLUMINA ss3644482305 Oct 11, 2018 (152)
36 ILLUMINA ss3651385668 Oct 11, 2018 (152)
37 ILLUMINA ss3653621311 Oct 11, 2018 (152)
38 EGCUT_WGS ss3654467827 Jul 12, 2019 (153)
39 ILLUMINA ss3725001338 Jul 12, 2019 (153)
40 ACPOP ss3726832998 Jul 12, 2019 (153)
41 ILLUMINA ss3744340450 Jul 12, 2019 (153)
42 ILLUMINA ss3744610761 Jul 12, 2019 (153)
43 PAGE_CC ss3770789433 Jul 12, 2019 (153)
44 ILLUMINA ss3772112342 Jul 12, 2019 (153)
45 KHV_HUMAN_GENOMES ss3798909741 Jul 12, 2019 (153)
46 EVA ss3823569290 Apr 25, 2020 (154)
47 EVA ss3825555526 Apr 25, 2020 (154)
48 SGDP_PRJ ss3848319818 Apr 25, 2020 (154)
49 EVA ss3986103761 Apr 27, 2021 (155)
50 TOPMED ss4440758622 Apr 27, 2021 (155)
51 1000Genomes NC_000001.10 - 18149666 Oct 11, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18149666 Oct 11, 2018 (152)
53 Genetic variation in the Estonian population NC_000001.10 - 18149666 Oct 11, 2018 (152)
54 ExAC NC_000001.10 - 18149666 Oct 11, 2018 (152)
55 FINRISK NC_000001.10 - 18149666 Apr 25, 2020 (154)
56 The Danish reference pan genome NC_000001.10 - 18149666 Apr 25, 2020 (154)
57 gnomAD - Genomes NC_000001.11 - 17823171 Apr 27, 2021 (155)
58 gnomAD - Exomes NC_000001.10 - 18149666 Jul 12, 2019 (153)
59 GO Exome Sequencing Project NC_000001.10 - 18149666 Oct 11, 2018 (152)
60 Genome of the Netherlands Release 5 NC_000001.10 - 18149666 Apr 25, 2020 (154)
61 Northern Sweden NC_000001.10 - 18149666 Jul 12, 2019 (153)
62 The PAGE Study NC_000001.11 - 17823171 Jul 12, 2019 (153)
63 SGDP_PRJ NC_000001.10 - 18149666 Apr 25, 2020 (154)
64 TopMed NC_000001.11 - 17823171 Apr 27, 2021 (155)
65 UK 10K study - Twins NC_000001.10 - 18149666 Oct 11, 2018 (152)
66 ALFA NC_000001.11 - 17823171 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
ss217314461, ss491587204, ss1584261093 NC_000001.9:18022252:A:G NC_000001.11:17823170:A:G (self)
555245, 287517, 206075, 4534444, 1759, 1408802, 206169, 28008, 125560, 117863, 336798, 287517, ss328449523, ss341939372, ss489724891, ss491287947, ss780806818, ss783488502, ss974903811, ss1289872605, ss1573915280, ss1584005298, ss1599639509, ss1642633542, ss1685351829, ss1751884962, ss1917723768, ss1945986454, ss1958247861, ss2322573281, ss2710666826, ss2731193595, ss2746240330, ss2752209892, ss2984847571, ss2986399140, ss3021061146, ss3626037667, ss3634309798, ss3640017162, ss3644482305, ss3651385668, ss3653621311, ss3654467827, ss3726832998, ss3744340450, ss3744610761, ss3772112342, ss3823569290, ss3825555526, ss3848319818, ss3986103761 NC_000001.10:18149665:A:G NC_000001.11:17823170:A:G (self)
3884693, 10902, 2740559, 4364957, 6326243661, ss2160392596, ss3069887024, ss3725001338, ss3770789433, ss3798909741, ss4440758622 NC_000001.11:17823170:A:G NC_000001.11:17823170:A:G (self)
ss86266345 NT_004610.19:4829753:A:G NC_000001.11:17823170:A:G (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 rs61748634

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