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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.

rs478698

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17826087 (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=0.134799 (35680/264690, TOPMED)
T=0.170875 (42211/247028, GnomAD_exome)
T=0.182264 (31449/172546, ALFA) (+ 19 more)
T=0.150477 (21099/140214, GnomAD)
T=0.170912 (20614/120612, ExAC)
T=0.19117 (3204/16760, 8.3KJPN)
T=0.14047 (1827/13006, GO-ESP)
T=0.1254 (628/5008, 1000G)
T=0.2618 (1173/4480, Estonian)
T=0.1923 (741/3854, ALSPAC)
T=0.1974 (732/3708, TWINSUK)
T=0.1935 (567/2930, KOREAN)
T=0.1142 (216/1892, HapMap)
T=0.193 (193/998, GoNL)
T=0.155 (95/611, Vietnamese)
T=0.205 (123/600, NorthernSweden)
T=0.150 (80/534, MGP)
T=0.250 (76/304, FINRISK)
T=0.120 (26/216, Qatari)
C=0.421 (75/178, SGDP_PRJ)
T=0.38 (15/40, GENOME_DK)
C=0.45 (10/22, Siberian)
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.17826087C>T
GRCh37.p13 chr 1 NC_000001.10:g.18152582C>T
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.669C>T D [GAC] > D [GAT] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Asp223= D (Asp) > D (Asp) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.669C>T D [GAC] > D [GAT] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Asp223= D (Asp) > D (Asp) 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 172546 C=0.817736 T=0.182264
European Sub 147146 C=0.807457 T=0.192543
African Sub 7286 C=0.9417 T=0.0583
African Others Sub 250 C=0.992 T=0.008
African American Sub 7036 C=0.9399 T=0.0601
Asian Sub 686 C=0.822 T=0.178
East Asian Sub 524 C=0.815 T=0.185
Other Asian Sub 162 C=0.846 T=0.154
Latin American 1 Sub 752 C=0.875 T=0.125
Latin American 2 Sub 6332 C=0.9168 T=0.0832
South Asian Sub 184 C=0.853 T=0.147
Other Sub 10160 C=0.81083 T=0.18917


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=0.865201 T=0.134799
gnomAD - Exomes Global Study-wide 247028 C=0.829125 T=0.170875
gnomAD - Exomes European Sub 131146 C=0.796204 T=0.203796
gnomAD - Exomes Asian Sub 48956 C=0.83350 T=0.16650
gnomAD - Exomes American Sub 34558 C=0.92922 T=0.07078
gnomAD - Exomes African Sub 16208 C=0.95249 T=0.04751
gnomAD - Exomes Ashkenazi Jewish Sub 10064 C=0.70320 T=0.29680
gnomAD - Exomes Other Sub 6096 C=0.8146 T=0.1854
gnomAD - Genomes Global Study-wide 140214 C=0.849523 T=0.150477
gnomAD - Genomes European Sub 75906 C=0.79604 T=0.20396
gnomAD - Genomes African Sub 42052 C=0.94756 T=0.05244
gnomAD - Genomes American Sub 13650 C=0.88718 T=0.11282
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.7125 T=0.2875
gnomAD - Genomes East Asian Sub 3130 C=0.8029 T=0.1971
gnomAD - Genomes Other Sub 2154 C=0.8607 T=0.1393
ExAC Global Study-wide 120612 C=0.829088 T=0.170912
ExAC Europe Sub 72868 C=0.79332 T=0.20668
ExAC Asian Sub 25076 C=0.83558 T=0.16442
ExAC American Sub 11526 C=0.93623 T=0.06377
ExAC African Sub 10240 C=0.95000 T=0.05000
ExAC Other Sub 902 C=0.796 T=0.204
8.3KJPN JAPANESE Study-wide 16760 C=0.80883 T=0.19117
GO Exome Sequencing Project Global Study-wide 13006 C=0.85953 T=0.14047
GO Exome Sequencing Project European American Sub 8600 C=0.8127 T=0.1873
GO Exome Sequencing Project African American Sub 4406 C=0.9510 T=0.0490
1000Genomes Global Study-wide 5008 C=0.8746 T=0.1254
1000Genomes African Sub 1322 C=0.9796 T=0.0204
1000Genomes East Asian Sub 1008 C=0.8204 T=0.1796
1000Genomes Europe Sub 1006 C=0.8052 T=0.1948
1000Genomes South Asian Sub 978 C=0.844 T=0.156
1000Genomes American Sub 694 C=0.898 T=0.102
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7382 T=0.2618
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8077 T=0.1923
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8026 T=0.1974
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8065 T=0.1935
HapMap Global Study-wide 1892 C=0.8858 T=0.1142
HapMap American Sub 770 C=0.840 T=0.160
HapMap African Sub 692 C=0.971 T=0.029
HapMap Asian Sub 254 C=0.839 T=0.161
HapMap Europe Sub 176 C=0.818 T=0.182
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.807 T=0.193
A Vietnamese Genetic Variation Database Global Study-wide 611 C=0.845 T=0.155
Northern Sweden ACPOP Study-wide 600 C=0.795 T=0.205
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.850 T=0.150
FINRISK Finnish from FINRISK project Study-wide 304 C=0.750 T=0.250
Qatari Global Study-wide 216 C=0.880 T=0.120
SGDP_PRJ Global Study-wide 178 C=0.421 T=0.579
The Danish reference pan genome Danish Study-wide 40 C=0.62 T=0.38
Siberian Global Study-wide 22 C=0.45 T=0.55
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.17826087= NC_000001.11:g.17826087C>T
GRCh37.p13 chr 1 NC_000001.10:g.18152582= NC_000001.10:g.18152582C>T
ACTL8 transcript NM_030812.3:c.669= NM_030812.3:c.669C>T
ACTL8 transcript NM_030812.2:c.669= NM_030812.2:c.669C>T
ACTL8 transcript variant X1 XM_011542212.2:c.669= XM_011542212.2:c.669C>T
actin-like protein 8 NP_110439.2:p.Asp223= NP_110439.2:p.Asp223=
actin-like protein 8 isoform X1 XP_011540514.1:p.Asp223= XP_011540514.1:p.Asp223=
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#.

109 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss648213 Aug 11, 2000 (83)
2 YUSUKE ss4981698 Aug 28, 2002 (108)
3 SC_SNP ss13032142 Dec 05, 2003 (119)
4 PERLEGEN ss24236808 Sep 20, 2004 (123)
5 APPLERA_GI ss48422952 Mar 14, 2006 (126)
6 SI_EXO ss61705114 Oct 14, 2006 (127)
7 PERLEGEN ss68759906 May 16, 2007 (127)
8 AFFY ss74814824 Aug 16, 2007 (128)
9 ILLUMINA ss75153604 Dec 06, 2007 (129)
10 HGSV ss78302025 Dec 06, 2007 (129)
11 HGSV ss85218604 Dec 14, 2007 (130)
12 1000GENOMES ss108026742 Jan 22, 2009 (130)
13 KRIBB_YJKIM ss119354938 Dec 01, 2009 (131)
14 GMI ss154707786 Dec 01, 2009 (131)
15 SEATTLESEQ ss159696421 Dec 01, 2009 (131)
16 ILLUMINA ss160711683 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss166169439 Jul 04, 2010 (132)
18 ILLUMINA ss173812894 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss205309300 Jul 04, 2010 (132)
20 1000GENOMES ss217314463 Jul 14, 2010 (132)
21 1000GENOMES ss217390913 Jul 14, 2010 (132)
22 1000GENOMES ss217392156 Jul 14, 2010 (132)
23 1000GENOMES ss217400052 Jul 14, 2010 (132)
24 1000GENOMES ss217405946 Jul 14, 2010 (132)
25 1000GENOMES ss217410588 Jul 14, 2010 (132)
26 1000GENOMES ss217411091 Jul 14, 2010 (132)
27 1000GENOMES ss230445218 Jul 14, 2010 (132)
28 1000GENOMES ss238156540 Jul 15, 2010 (132)
29 GMI ss275736682 May 04, 2012 (137)
30 GMI ss284010463 Apr 25, 2013 (138)
31 NHLBI-ESP ss341939392 May 09, 2011 (134)
32 ILLUMINA ss481047732 May 04, 2012 (137)
33 ILLUMINA ss481069177 May 04, 2012 (137)
34 ILLUMINA ss482060967 Sep 08, 2015 (146)
35 ILLUMINA ss485318835 May 04, 2012 (137)
36 1000GENOMES ss489724899 May 04, 2012 (137)
37 CLINSEQ_SNP ss491587212 May 04, 2012 (137)
38 ILLUMINA ss537274165 Sep 08, 2015 (146)
39 SSMP ss647611551 Apr 25, 2013 (138)
40 ILLUMINA ss778919249 Sep 08, 2015 (146)
41 ILLUMINA ss783105240 Sep 08, 2015 (146)
42 ILLUMINA ss784062391 Sep 08, 2015 (146)
43 ILLUMINA ss832363852 Sep 08, 2015 (146)
44 ILLUMINA ss834380670 Sep 08, 2015 (146)
45 EVA-GONL ss974903835 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1067417172 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1067703851 Aug 21, 2014 (142)
48 1000GENOMES ss1289872681 Aug 21, 2014 (142)
49 EVA_GENOME_DK ss1573915292 Apr 01, 2015 (144)
50 EVA_FINRISK ss1584005302 Apr 01, 2015 (144)
51 EVA_DECODE ss1584261116 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1599639554 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1642633587 Apr 01, 2015 (144)
54 EVA_EXAC ss1685351967 Apr 01, 2015 (144)
55 EVA_MGP ss1710892628 Apr 01, 2015 (144)
56 EVA_SVP ss1712314537 Apr 01, 2015 (144)
57 ILLUMINA ss1751884978 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1918114226 Feb 12, 2016 (147)
59 JJLAB ss2019568334 Sep 14, 2016 (149)
60 USC_VALOUEV ss2147570715 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2160392777 Dec 20, 2016 (150)
62 TOPMED ss2322573481 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2624300455 Nov 08, 2017 (151)
64 ILLUMINA ss2632483770 Nov 08, 2017 (151)
65 GRF ss2697474681 Nov 08, 2017 (151)
66 GNOMAD ss2731193779 Nov 08, 2017 (151)
67 GNOMAD ss2746240388 Nov 08, 2017 (151)
68 GNOMAD ss2752210153 Nov 08, 2017 (151)
69 AFFY ss2984847577 Nov 08, 2017 (151)
70 SWEGEN ss2986399170 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3023548761 Nov 08, 2017 (151)
72 TOPMED ss3069887562 Nov 08, 2017 (151)
73 CSHL ss3343346600 Nov 08, 2017 (151)
74 ILLUMINA ss3626037678 Oct 11, 2018 (152)
75 ILLUMINA ss3630521756 Oct 11, 2018 (152)
76 ILLUMINA ss3632882506 Oct 11, 2018 (152)
77 ILLUMINA ss3633576469 Oct 11, 2018 (152)
78 ILLUMINA ss3634309804 Oct 11, 2018 (152)
79 ILLUMINA ss3635270539 Oct 11, 2018 (152)
80 ILLUMINA ss3635986077 Oct 11, 2018 (152)
81 ILLUMINA ss3637020920 Oct 11, 2018 (152)
82 ILLUMINA ss3637740233 Oct 11, 2018 (152)
83 ILLUMINA ss3640017168 Oct 11, 2018 (152)
84 ILLUMINA ss3642753816 Oct 11, 2018 (152)
85 OMUKHERJEE_ADBS ss3646225717 Oct 11, 2018 (152)
86 ILLUMINA ss3653621317 Oct 11, 2018 (152)
87 EGCUT_WGS ss3654467865 Jul 12, 2019 (153)
88 EVA_DECODE ss3686261521 Jul 12, 2019 (153)
89 ACPOP ss3726833011 Jul 12, 2019 (153)
90 ILLUMINA ss3744610767 Jul 12, 2019 (153)
91 EVA ss3745887919 Jul 12, 2019 (153)
92 ILLUMINA ss3772112348 Jul 12, 2019 (153)
93 KHV_HUMAN_GENOMES ss3798909768 Jul 12, 2019 (153)
94 EVA ss3823569317 Apr 25, 2020 (154)
95 EVA ss3825555536 Apr 25, 2020 (154)
96 EVA ss3826048486 Apr 25, 2020 (154)
97 EVA ss3836412329 Apr 25, 2020 (154)
98 EVA ss3841816647 Apr 25, 2020 (154)
99 SGDP_PRJ ss3848319853 Apr 25, 2020 (154)
100 KRGDB ss3893224256 Apr 25, 2020 (154)
101 FSA-LAB ss3983920049 Apr 27, 2021 (155)
102 FSA-LAB ss3983920050 Apr 27, 2021 (155)
103 EVA ss3986009372 Apr 27, 2021 (155)
104 EVA ss3986103767 Apr 27, 2021 (155)
105 EVA ss4016895830 Apr 27, 2021 (155)
106 TOPMED ss4440759407 Apr 27, 2021 (155)
107 TOMMO_GENOMICS ss5142738952 Apr 27, 2021 (155)
108 EVA ss5236865372 Apr 27, 2021 (155)
109 EVA ss5237160042 Apr 27, 2021 (155)
110 1000Genomes NC_000001.10 - 18152582 Oct 11, 2018 (152)
111 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18152582 Oct 11, 2018 (152)
112 Genetic variation in the Estonian population NC_000001.10 - 18152582 Oct 11, 2018 (152)
113 ExAC NC_000001.10 - 18152582 Oct 11, 2018 (152)
114 FINRISK NC_000001.10 - 18152582 Apr 25, 2020 (154)
115 The Danish reference pan genome NC_000001.10 - 18152582 Apr 25, 2020 (154)
116 gnomAD - Genomes NC_000001.11 - 17826087 Apr 27, 2021 (155)
117 gnomAD - Exomes NC_000001.10 - 18152582 Jul 12, 2019 (153)
118 GO Exome Sequencing Project NC_000001.10 - 18152582 Oct 11, 2018 (152)
119 Genome of the Netherlands Release 5 NC_000001.10 - 18152582 Apr 25, 2020 (154)
120 HapMap NC_000001.11 - 17826087 Apr 25, 2020 (154)
121 KOREAN population from KRGDB NC_000001.10 - 18152582 Apr 25, 2020 (154)
122 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 18152582 Apr 25, 2020 (154)
123 Northern Sweden NC_000001.10 - 18152582 Jul 12, 2019 (153)
124 Qatari NC_000001.10 - 18152582 Apr 25, 2020 (154)
125 SGDP_PRJ NC_000001.10 - 18152582 Apr 25, 2020 (154)
126 Siberian NC_000001.10 - 18152582 Apr 25, 2020 (154)
127 8.3KJPN NC_000001.10 - 18152582 Apr 27, 2021 (155)
128 TopMed NC_000001.11 - 17826087 Apr 27, 2021 (155)
129 UK 10K study - Twins NC_000001.10 - 18152582 Oct 11, 2018 (152)
130 A Vietnamese Genetic Variation Database NC_000001.10 - 18152582 Jul 12, 2019 (153)
131 ALFA NC_000001.11 - 17826087 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).

Associated ID History Updated (Build)
rs3795321 Oct 08, 2002 (108)
rs17360700 Oct 07, 2004 (123)
rs52803776 Sep 21, 2007 (128)
rs57790996 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78302025, ss85218604 NC_000001.8:17897887:C:T NC_000001.11:17826086:C:T (self)
ss108026742, ss166169439, ss205309300, ss217314463, ss217390913, ss217392156, ss217400052, ss217405946, ss217410588, ss217411091, ss275736682, ss284010463, ss481047732, ss491587212, ss1584261116, ss1712314537, ss3642753816 NC_000001.9:18025168:C:T NC_000001.11:17826086:C:T (self)
555327, 287569, 206113, 4534586, 1763, 1408808, 206377, 28035, 125584, 401650, 9380, 117876, 156156, 336833, 87069, 708259, 287569, 61361, ss230445218, ss238156540, ss341939392, ss481069177, ss482060967, ss485318835, ss489724899, ss537274165, ss647611551, ss778919249, ss783105240, ss784062391, ss832363852, ss834380670, ss974903835, ss1067417172, ss1067703851, ss1289872681, ss1573915292, ss1584005302, ss1599639554, ss1642633587, ss1685351967, ss1710892628, ss1751884978, ss1918114226, ss2019568334, ss2147570715, ss2322573481, ss2624300455, ss2632483770, ss2697474681, ss2731193779, ss2746240388, ss2752210153, ss2984847577, ss2986399170, ss3343346600, ss3626037678, ss3630521756, ss3632882506, ss3633576469, ss3634309804, ss3635270539, ss3635986077, ss3637020920, ss3637740233, ss3640017168, ss3646225717, ss3653621317, ss3654467865, ss3726833011, ss3744610767, ss3745887919, ss3772112348, ss3823569317, ss3825555536, ss3826048486, ss3836412329, ss3848319853, ss3893224256, ss3983920049, ss3983920050, ss3986009372, ss3986103767, ss4016895830, ss5142738952 NC_000001.10:18152581:C:T NC_000001.11:17826086:C:T (self)
3885303, 21762, 2741038, 4365742, 7900951244, ss2160392777, ss3023548761, ss3069887562, ss3686261521, ss3798909768, ss3841816647, ss4440759407, ss5236865372, ss5237160042 NC_000001.11:17826086:C:T NC_000001.11:17826086:C:T (self)
ss61705114 NT_004610.17:976923:C:T NC_000001.11:17826086:C:T (self)
ss648213, ss4981698, ss24236808, ss48422952, ss68759906, ss74814824, ss75153604, ss119354938, ss154707786, ss159696421, ss160711683, ss173812894 NT_004610.19:4832669:C:T NC_000001.11:17826086:C:T (self)
ss13032142 NT_030584.9:976923:C:T NC_000001.11:17826086: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 rs478698

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