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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.

rs694214

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17823015 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.404498 (142410/352066, ALFA)
T=0.334452 (88526/264690, TOPMED)
T=0.392078 (46357/118234, ExAC) (+ 21 more)
T=0.29406 (23139/78688, PAGE_STUDY)
T=0.42703 (7157/16760, 8.3KJPN)
T=0.34761 (4521/13006, GO-ESP)
T=0.3057 (1531/5008, 1000G)
T=0.4819 (2159/4480, Estonian)
T=0.4294 (1655/3854, ALSPAC)
T=0.4258 (1579/3708, TWINSUK)
T=0.3787 (1108/2926, KOREAN)
T=0.3388 (706/2084, HGDP_Stanford)
T=0.2812 (532/1892, HapMap)
T=0.461 (460/998, GoNL)
T=0.389 (293/754, PRJEB37584)
G=0.492 (295/600, NorthernSweden)
T=0.419 (249/594, Vietnamese)
T=0.331 (177/534, MGP)
G=0.367 (116/316, SGDP_PRJ)
G=0.477 (144/302, FINRISK)
T=0.338 (73/216, Qatari)
T=0.27 (26/96, Ancient Sardinia)
T=0.45 (18/40, GENOME_DK)
G=0.37 (11/30, 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.17823015G>A
GRCh38.p13 chr 1 NC_000001.11:g.17823015G>T
GRCh37.p13 chr 1 NC_000001.10:g.18149510G>A
GRCh37.p13 chr 1 NC_000001.10:g.18149510G>T
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.7G>A A [GCA] > T [ACA] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Ala3Thr A (Ala) > T (Thr) Missense Variant
ACTL8 transcript NM_030812.3:c.7G>T A [GCA] > S [TCA] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Ala3Ser A (Ala) > S (Ser) Missense Variant
ACTL8 transcript variant X1 XM_011542212.2:c.7G>A A [GCA] > T [ACA] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Ala3Thr A (Ala) > T (Thr) Missense Variant
ACTL8 transcript variant X1 XM_011542212.2:c.7G>T A [GCA] > S [TCA] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Ala3Ser A (Ala) > S (Ser) 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 352066 G=0.595502 A=0.000000, T=0.404498
European Sub 299808 G=0.581919 A=0.000000, T=0.418081
African Sub 10522 G=0.83378 A=0.00000, T=0.16622
African Others Sub 380 G=0.876 A=0.000, T=0.124
African American Sub 10142 G=0.83218 A=0.00000, T=0.16782
Asian Sub 6826 G=0.5955 A=0.0000, T=0.4045
East Asian Sub 4876 G=0.6064 A=0.0000, T=0.3936
Other Asian Sub 1950 G=0.5682 A=0.0000, T=0.4318
Latin American 1 Sub 1396 G=0.6726 A=0.0000, T=0.3274
Latin American 2 Sub 6870 G=0.6843 A=0.0000, T=0.3157
South Asian Sub 5186 G=0.7354 A=0.0000, T=0.2646
Other Sub 21458 G=0.60117 A=0.00000, T=0.39883


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=0.665548 T=0.334452
ExAC Global Study-wide 118234 G=0.607922 T=0.392078
ExAC Europe Sub 71948 G=0.54940 T=0.45060
ExAC Asian Sub 23928 G=0.66968 T=0.33032
ExAC American Sub 11328 G=0.68079 T=0.31921
ExAC African Sub 10152 G=0.79708 T=0.20292
ExAC Other Sub 878 G=0.593 T=0.407
The PAGE Study Global Study-wide 78688 G=0.70594 T=0.29406
The PAGE Study AfricanAmerican Sub 32508 G=0.79553 T=0.20447
The PAGE Study Mexican Sub 10808 G=0.67487 T=0.32513
The PAGE Study Asian Sub 8316 G=0.5639 T=0.4361
The PAGE Study PuertoRican Sub 7918 G=0.6916 T=0.3084
The PAGE Study NativeHawaiian Sub 4534 G=0.4784 T=0.5216
The PAGE Study Cuban Sub 4228 G=0.6696 T=0.3304
The PAGE Study Dominican Sub 3828 G=0.7333 T=0.2667
The PAGE Study CentralAmerican Sub 2450 G=0.7045 T=0.2955
The PAGE Study SouthAmerican Sub 1982 G=0.6776 T=0.3224
The PAGE Study NativeAmerican Sub 1260 G=0.6016 T=0.3984
The PAGE Study SouthAsian Sub 856 G=0.695 T=0.305
8.3KJPN JAPANESE Study-wide 16760 G=0.57297 T=0.42703
GO Exome Sequencing Project Global Study-wide 13006 G=0.65239 T=0.34761
GO Exome Sequencing Project European American Sub 8600 G=0.5780 T=0.4220
GO Exome Sequencing Project African American Sub 4406 G=0.7975 T=0.2025
1000Genomes Global Study-wide 5008 G=0.6943 T=0.3057
1000Genomes African Sub 1322 G=0.8570 T=0.1430
1000Genomes East Asian Sub 1008 G=0.5685 T=0.4315
1000Genomes Europe Sub 1006 G=0.5626 T=0.4374
1000Genomes South Asian Sub 978 G=0.752 T=0.248
1000Genomes American Sub 694 G=0.677 T=0.323
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5181 T=0.4819
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5706 T=0.4294
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5742 T=0.4258
KOREAN population from KRGDB KOREAN Study-wide 2926 G=0.6213 T=0.3787
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.6612 T=0.3388
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.562 T=0.438
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.657 T=0.343
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.691 T=0.309
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.613 T=0.388
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.905 T=0.095
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.755 T=0.245
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.31 T=0.69
HapMap Global Study-wide 1892 G=0.7188 T=0.2812
HapMap American Sub 770 G=0.660 T=0.340
HapMap African Sub 692 G=0.844 T=0.156
HapMap Asian Sub 254 G=0.630 T=0.370
HapMap Europe Sub 176 G=0.614 T=0.386
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.539 T=0.461
CNV burdens in cranial meningiomas Global Study-wide 754 G=0.611 T=0.389
CNV burdens in cranial meningiomas CRM Sub 754 G=0.611 T=0.389
Northern Sweden ACPOP Study-wide 600 G=0.492 T=0.508
A Vietnamese Genetic Variation Database Global Study-wide 594 G=0.581 T=0.419
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.669 T=0.331
SGDP_PRJ Global Study-wide 316 G=0.367 T=0.633
FINRISK Finnish from FINRISK project Study-wide 302 G=0.477 T=0.523
Qatari Global Study-wide 216 G=0.662 T=0.338
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 96 G=0.73 T=0.27
The Danish reference pan genome Danish Study-wide 40 G=0.55 T=0.45
Siberian Global Study-wide 30 G=0.37 T=0.63
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 T
GRCh38.p13 chr 1 NC_000001.11:g.17823015= NC_000001.11:g.17823015G>A NC_000001.11:g.17823015G>T
GRCh37.p13 chr 1 NC_000001.10:g.18149510= NC_000001.10:g.18149510G>A NC_000001.10:g.18149510G>T
ACTL8 transcript NM_030812.3:c.7= NM_030812.3:c.7G>A NM_030812.3:c.7G>T
ACTL8 transcript NM_030812.2:c.7= NM_030812.2:c.7G>A NM_030812.2:c.7G>T
ACTL8 transcript variant X1 XM_011542212.2:c.7= XM_011542212.2:c.7G>A XM_011542212.2:c.7G>T
actin-like protein 8 NP_110439.2:p.Ala3= NP_110439.2:p.Ala3Thr NP_110439.2:p.Ala3Ser
actin-like protein 8 isoform X1 XP_011540514.1:p.Ala3= XP_011540514.1:p.Ala3Thr XP_011540514.1:p.Ala3Ser
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#.

160 SubSNP, 28 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss868032 Aug 11, 2000 (83)
2 YUSUKE ss3239999 Sep 28, 2001 (100)
3 SC_SNP ss13032613 Dec 05, 2003 (119)
4 MGC_GENOME_DIFF ss28506920 Sep 24, 2004 (126)
5 ABI ss43992706 Mar 11, 2006 (126)
6 ILLUMINA ss65729109 Oct 16, 2006 (127)
7 ILLUMINA ss66624329 Nov 30, 2006 (127)
8 ILLUMINA ss67519298 Nov 30, 2006 (127)
9 ILLUMINA ss67885469 Nov 30, 2006 (127)
10 PERLEGEN ss68759903 May 17, 2007 (127)
11 ILLUMINA ss70897091 May 24, 2008 (130)
12 ILLUMINA ss71491581 May 17, 2007 (127)
13 ILLUMINA ss75445811 Dec 07, 2007 (129)
14 SI_EXO ss76883467 Dec 07, 2007 (129)
15 ILLUMINA ss79239469 Dec 15, 2007 (130)
16 HGSV ss80399682 Dec 15, 2007 (130)
17 KRIBB_YJKIM ss83519641 Dec 15, 2007 (130)
18 CORNELL ss86270412 Mar 23, 2008 (129)
19 HUMANGENOME_JCVI ss99190541 Feb 04, 2009 (130)
20 BGI ss105126674 Dec 01, 2009 (131)
21 1000GENOMES ss108026722 Jan 22, 2009 (130)
22 ILLUMINA-UK ss118532050 Feb 14, 2009 (130)
23 ILLUMINA ss122651974 Dec 01, 2009 (131)
24 ENSEMBL ss142482199 Dec 01, 2009 (131)
25 ILLUMINA ss154393354 Dec 01, 2009 (131)
26 GMI ss154707736 Dec 01, 2009 (131)
27 ILLUMINA ss159568876 Dec 01, 2009 (131)
28 SEATTLESEQ ss159696418 Dec 01, 2009 (131)
29 ILLUMINA ss160828253 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss166169393 Jul 04, 2010 (132)
31 ILLUMINA ss172221318 Jul 04, 2010 (132)
32 ILLUMINA ss174175826 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss205436999 Jul 04, 2010 (132)
34 1000GENOMES ss217314446 Jul 14, 2010 (132)
35 1000GENOMES ss217390899 Jul 14, 2010 (132)
36 1000GENOMES ss217392141 Jul 14, 2010 (132)
37 1000GENOMES ss217400026 Jul 14, 2010 (132)
38 1000GENOMES ss217405928 Jul 14, 2010 (132)
39 1000GENOMES ss217410568 Jul 14, 2010 (132)
40 1000GENOMES ss217411080 Jul 14, 2010 (132)
41 1000GENOMES ss218260971 Jul 14, 2010 (132)
42 1000GENOMES ss230445210 Jul 14, 2010 (132)
43 1000GENOMES ss238156531 Jul 15, 2010 (132)
44 GMI ss275736674 May 04, 2012 (137)
45 GMI ss284010458 Apr 25, 2013 (138)
46 PJP ss290703336 May 09, 2011 (134)
47 NHLBI-ESP ss341939362 May 09, 2011 (134)
48 ILLUMINA ss481407535 May 04, 2012 (137)
49 ILLUMINA ss481434260 May 04, 2012 (137)
50 ILLUMINA ss482414384 Sep 08, 2015 (146)
51 ILLUMINA ss485498720 May 04, 2012 (137)
52 1000GENOMES ss489724881 May 04, 2012 (137)
53 EXOME_CHIP ss491287944 May 04, 2012 (137)
54 CLINSEQ_SNP ss491587201 May 04, 2012 (137)
55 ILLUMINA ss537413083 Sep 08, 2015 (146)
56 TISHKOFF ss553845491 Apr 25, 2013 (138)
57 SSMP ss647611538 Apr 25, 2013 (138)
58 ILLUMINA ss778586213 Sep 08, 2015 (146)
59 ILLUMINA ss780806795 Sep 08, 2015 (146)
60 ILLUMINA ss783194901 Sep 08, 2015 (146)
61 ILLUMINA ss783488478 Sep 08, 2015 (146)
62 ILLUMINA ss784149976 Sep 08, 2015 (146)
63 ILLUMINA ss825569987 Apr 01, 2015 (144)
64 ILLUMINA ss832454778 Sep 08, 2015 (146)
65 ILLUMINA ss833079988 Jul 12, 2019 (153)
66 ILLUMINA ss834043369 Sep 08, 2015 (146)
67 JMKIDD_LAB ss974433583 Aug 21, 2014 (142)
68 EVA-GONL ss974903807 Aug 21, 2014 (142)
69 JMKIDD_LAB ss1067417167 Aug 21, 2014 (142)
70 JMKIDD_LAB ss1067703835 Aug 21, 2014 (142)
71 1000GENOMES ss1289872596 Aug 21, 2014 (142)
72 DDI ss1425731155 Apr 01, 2015 (144)
73 EVA_GENOME_DK ss1573915276 Apr 01, 2015 (144)
74 EVA_FINRISK ss1584005295 Apr 01, 2015 (144)
75 EVA_DECODE ss1584261089 Apr 01, 2015 (144)
76 EVA_UK10K_ALSPAC ss1599639502 Apr 01, 2015 (144)
77 EVA_UK10K_TWINSUK ss1642633535 Apr 01, 2015 (144)
78 EVA_EXAC ss1685351802 Apr 01, 2015 (144)
79 EVA_MGP ss1710892623 Apr 01, 2015 (144)
80 EVA_SVP ss1712314533 Apr 01, 2015 (144)
81 ILLUMINA ss1751884957 Sep 08, 2015 (146)
82 ILLUMINA ss1751884958 Sep 08, 2015 (146)
83 ILLUMINA ss1917723765 Feb 12, 2016 (147)
84 WEILL_CORNELL_DGM ss1918114207 Feb 12, 2016 (147)
85 ILLUMINA ss1945986451 Feb 12, 2016 (147)
86 ILLUMINA ss1958247857 Feb 12, 2016 (147)
87 GENOMED ss1966695386 Jul 19, 2016 (147)
88 JJLAB ss2019568323 Sep 14, 2016 (149)
89 ILLUMINA ss2094782545 Dec 20, 2016 (150)
90 ILLUMINA ss2094954315 Dec 20, 2016 (150)
91 USC_VALOUEV ss2147570707 Dec 20, 2016 (150)
92 HUMAN_LONGEVITY ss2160392584 Dec 20, 2016 (150)
93 TOPMED ss2322573267 Dec 20, 2016 (150)
94 SYSTEMSBIOZJU ss2624300449 Nov 08, 2017 (151)
95 ILLUMINA ss2632483762 Nov 08, 2017 (151)
96 GRF ss2697474665 Nov 08, 2017 (151)
97 GNOMAD ss2731193558 Nov 08, 2017 (151)
98 GNOMAD ss2746240314 Nov 08, 2017 (151)
99 GNOMAD ss2752209876 Nov 08, 2017 (151)
100 AFFY ss2984847569 Nov 08, 2017 (151)
101 SWEGEN ss2986399136 Nov 08, 2017 (151)
102 EVA_SAMSUNG_MC ss3023056433 Nov 08, 2017 (151)
103 BIOINF_KMB_FNS_UNIBA ss3023548754 Nov 08, 2017 (151)
104 TOPMED ss3069886990 Nov 08, 2017 (151)
105 CSHL ss3343346591 Nov 08, 2017 (151)
106 ILLUMINA ss3626037661 Oct 11, 2018 (152)
107 ILLUMINA ss3626037662 Oct 11, 2018 (152)
108 ILLUMINA ss3630521748 Oct 11, 2018 (152)
109 ILLUMINA ss3632882503 Oct 11, 2018 (152)
110 ILLUMINA ss3633576466 Oct 11, 2018 (152)
111 ILLUMINA ss3634309793 Oct 11, 2018 (152)
112 ILLUMINA ss3634309794 Oct 11, 2018 (152)
113 ILLUMINA ss3635270536 Oct 11, 2018 (152)
114 ILLUMINA ss3635986073 Oct 11, 2018 (152)
115 ILLUMINA ss3637020917 Oct 11, 2018 (152)
116 ILLUMINA ss3637740229 Oct 11, 2018 (152)
117 ILLUMINA ss3638891126 Oct 11, 2018 (152)
118 ILLUMINA ss3639442551 Oct 11, 2018 (152)
119 ILLUMINA ss3640017157 Oct 11, 2018 (152)
120 ILLUMINA ss3640017158 Oct 11, 2018 (152)
121 ILLUMINA ss3642753812 Oct 11, 2018 (152)
122 ILLUMINA ss3644482302 Oct 11, 2018 (152)
123 OMUKHERJEE_ADBS ss3646225715 Oct 11, 2018 (152)
124 URBANLAB ss3646612592 Oct 11, 2018 (152)
125 ILLUMINA ss3651385665 Oct 11, 2018 (152)
126 ILLUMINA ss3653621309 Oct 11, 2018 (152)
127 EGCUT_WGS ss3654467822 Jul 12, 2019 (153)
128 EVA_DECODE ss3686261484 Jul 12, 2019 (153)
129 ACPOP ss3726832994 Jul 12, 2019 (153)
130 ILLUMINA ss3744340447 Jul 12, 2019 (153)
131 ILLUMINA ss3744610756 Jul 12, 2019 (153)
132 ILLUMINA ss3744610757 Jul 12, 2019 (153)
133 EVA ss3745887884 Jul 12, 2019 (153)
134 PAGE_CC ss3770789430 Jul 12, 2019 (153)
135 ILLUMINA ss3772112337 Jul 12, 2019 (153)
136 ILLUMINA ss3772112338 Jul 12, 2019 (153)
137 PACBIO ss3783341383 Jul 12, 2019 (153)
138 PACBIO ss3789012720 Jul 12, 2019 (153)
139 PACBIO ss3793885181 Jul 12, 2019 (153)
140 KHV_HUMAN_GENOMES ss3798909737 Jul 12, 2019 (153)
141 EVA ss3823569277 Apr 25, 2020 (154)
142 EVA ss3825517789 Apr 25, 2020 (154)
143 EVA ss3825534942 Apr 25, 2020 (154)
144 EVA ss3825555522 Apr 25, 2020 (154)
145 EVA ss3826048478 Apr 25, 2020 (154)
146 EVA ss3836412324 Apr 25, 2020 (154)
147 EVA ss3841816642 Apr 25, 2020 (154)
148 HGDP ss3847325864 Apr 25, 2020 (154)
149 SGDP_PRJ ss3848319813 Apr 25, 2020 (154)
150 KRGDB ss3893224210 Apr 25, 2020 (154)
151 FSA-LAB ss3983920044 Apr 27, 2021 (155)
152 FSA-LAB ss3983920045 Apr 27, 2021 (155)
153 EVA ss3984452984 Apr 27, 2021 (155)
154 EVA ss3984781346 Apr 27, 2021 (155)
155 EVA ss3986009370 Apr 27, 2021 (155)
156 EVA ss3986103757 Apr 27, 2021 (155)
157 TOPMED ss4440758573 Apr 27, 2021 (155)
158 TOMMO_GENOMICS ss5142738856 Apr 27, 2021 (155)
159 EVA ss5236865366 Apr 27, 2021 (155)
160 EVA ss5237160040 Apr 27, 2021 (155)
161 1000Genomes NC_000001.10 - 18149510 Oct 11, 2018 (152)
162 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18149510 Oct 11, 2018 (152)
163 Genetic variation in the Estonian population NC_000001.10 - 18149510 Oct 11, 2018 (152)
164 ExAC NC_000001.10 - 18149510 Oct 11, 2018 (152)
165 FINRISK NC_000001.10 - 18149510 Apr 25, 2020 (154)
166 The Danish reference pan genome NC_000001.10 - 18149510 Apr 25, 2020 (154)
167 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 3884650 (NC_000001.11:17823014:G:A 1/140080)
Row 3884651 (NC_000001.11:17823014:G:T 49930/140030)

- Apr 27, 2021 (155)
168 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 3884650 (NC_000001.11:17823014:G:A 1/140080)
Row 3884651 (NC_000001.11:17823014:G:T 49930/140030)

- Apr 27, 2021 (155)
169 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 206121 (NC_000001.10:18149509:G:G 249415/249416, NC_000001.10:18149509:G:A 1/249416)
Row 206122 (NC_000001.10:18149509:G:G 152448/249416, NC_000001.10:18149509:G:T 96968/249416)

- Jul 12, 2019 (153)
170 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 206121 (NC_000001.10:18149509:G:G 249415/249416, NC_000001.10:18149509:G:A 1/249416)
Row 206122 (NC_000001.10:18149509:G:G 152448/249416, NC_000001.10:18149509:G:T 96968/249416)

- Jul 12, 2019 (153)
171 GO Exome Sequencing Project NC_000001.10 - 18149510 Oct 11, 2018 (152)
172 Genome of the Netherlands Release 5 NC_000001.10 - 18149510 Apr 25, 2020 (154)
173 HGDP-CEPH-db Supplement 1 NC_000001.9 - 18022097 Apr 25, 2020 (154)
174 HapMap NC_000001.11 - 17823015 Apr 25, 2020 (154)
175 KOREAN population from KRGDB NC_000001.10 - 18149510 Apr 25, 2020 (154)
176 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 18149510 Apr 25, 2020 (154)
177 Northern Sweden NC_000001.10 - 18149510 Jul 12, 2019 (153)
178 The PAGE Study NC_000001.11 - 17823015 Jul 12, 2019 (153)
179 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 18149510 Apr 27, 2021 (155)
180 CNV burdens in cranial meningiomas NC_000001.10 - 18149510 Apr 27, 2021 (155)
181 Qatari NC_000001.10 - 18149510 Apr 25, 2020 (154)
182 SGDP_PRJ NC_000001.10 - 18149510 Apr 25, 2020 (154)
183 Siberian NC_000001.10 - 18149510 Apr 25, 2020 (154)
184 8.3KJPN NC_000001.10 - 18149510 Apr 27, 2021 (155)
185 TopMed NC_000001.11 - 17823015 Apr 27, 2021 (155)
186 UK 10K study - Twins NC_000001.10 - 18149510 Oct 11, 2018 (152)
187 A Vietnamese Genetic Variation Database NC_000001.10 - 18149510 Jul 12, 2019 (153)
188 ALFA NC_000001.11 - 17823015 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)
rs17852618 Mar 11, 2006 (126)
rs58310046 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2731193558, ss2746240314, ss2752209876 NC_000001.10:18149509:G:A NC_000001.11:17823014:G:A (self)
12978372188 NC_000001.11:17823014:G:A NC_000001.11:17823014:G:A
ss80399682, ss3638891126, ss3639442551 NC_000001.8:17894815:G:T NC_000001.11:17823014:G:T (self)
3756, ss108026722, ss118532050, ss166169393, ss205436999, ss217314446, ss217390899, ss217392141, ss217400026, ss217405928, ss217410568, ss217411080, ss275736674, ss284010458, ss290703336, ss481407535, ss491587201, ss825569987, ss1584261089, ss1712314533, ss3642753812, ss3847325864 NC_000001.9:18022096:G:T NC_000001.11:17823014:G:T (self)
555236, 287510, 206070, 4534416, 1756, 1408800, 27995, 125556, 401604, 9375, 117859, 7273, 2286, 156137, 336793, 87061, 708163, 287510, 61347, ss218260971, ss230445210, ss238156531, ss341939362, ss481434260, ss482414384, ss485498720, ss489724881, ss491287944, ss537413083, ss553845491, ss647611538, ss778586213, ss780806795, ss783194901, ss783488478, ss784149976, ss832454778, ss833079988, ss834043369, ss974433583, ss974903807, ss1067417167, ss1067703835, ss1289872596, ss1425731155, ss1573915276, ss1584005295, ss1599639502, ss1642633535, ss1685351802, ss1710892623, ss1751884957, ss1751884958, ss1917723765, ss1918114207, ss1945986451, ss1958247857, ss1966695386, ss2019568323, ss2094782545, ss2094954315, ss2147570707, ss2322573267, ss2624300449, ss2632483762, ss2697474665, ss2731193558, ss2746240314, ss2752209876, ss2984847569, ss2986399136, ss3023056433, ss3343346591, ss3626037661, ss3626037662, ss3630521748, ss3632882503, ss3633576466, ss3634309793, ss3634309794, ss3635270536, ss3635986073, ss3637020917, ss3637740229, ss3640017157, ss3640017158, ss3644482302, ss3646225715, ss3651385665, ss3653621309, ss3654467822, ss3726832994, ss3744340447, ss3744610756, ss3744610757, ss3745887884, ss3772112337, ss3772112338, ss3783341383, ss3789012720, ss3793885181, ss3823569277, ss3825517789, ss3825534942, ss3825555522, ss3826048478, ss3836412324, ss3848319813, ss3893224210, ss3983920044, ss3983920045, ss3984452984, ss3984781346, ss3986009370, ss3986103757, ss5142738856 NC_000001.10:18149509:G:T NC_000001.11:17823014:G:T (self)
21753, 10899, 2740529, 4364908, 12978372188, ss2160392584, ss3023548754, ss3069886990, ss3646612592, ss3686261484, ss3770789430, ss3798909737, ss3841816642, ss4440758573, ss5236865366, ss5237160040 NC_000001.11:17823014:G:T NC_000001.11:17823014:G:T (self)
ss76883467 NT_004610.18:973851:G:T NC_000001.11:17823014:G:T (self)
ss868032, ss3239999, ss28506920, ss43992706, ss65729109, ss66624329, ss67519298, ss67885469, ss68759903, ss70897091, ss71491581, ss75445811, ss79239469, ss83519641, ss86270412, ss99190541, ss105126674, ss122651974, ss142482199, ss154393354, ss154707736, ss159568876, ss159696418, ss160828253, ss172221318, ss174175826 NT_004610.19:4829597:G:T NC_000001.11:17823014:G:T (self)
ss13032613 NT_030584.9:973851:G:T NC_000001.11:17823014:G: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 rs694214

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