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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.

rs2296035

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:17823071 (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>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.448491 (118711/264690, TOPMED)
A=0.450958 (81011/179642, ALFA)
C=0.30967 (5190/16760, 8.3KJPN) (+ 19 more)
A=0.42196 (5488/13006, GO-ESP)
A=0.4828 (2418/5008, 1000G)
C=0.4746 (2126/4480, Estonian)
A=0.4616 (1779/3854, ALSPAC)
A=0.4687 (1738/3708, TWINSUK)
C=0.3621 (1061/2930, KOREAN)
C=0.4717 (983/2084, HGDP_Stanford)
A=0.4544 (858/1888, HapMap)
A=0.487 (486/998, GoNL)
C=0.323 (202/626, Chileans)
C=0.309 (190/614, Vietnamese)
C=0.440 (264/600, NorthernSweden)
A=0.388 (207/534, MGP)
C=0.279 (119/426, SGDP_PRJ)
C=0.418 (127/304, FINRISK)
A=0.412 (89/216, Qatari)
A=0.24 (16/68, Ancient Sardinia)
C=0.26 (11/42, Siberian)
C=0.47 (19/40, GENOME_DK)
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.17823071C>A
GRCh38.p13 chr 1 NC_000001.11:g.17823071C>G
GRCh38.p13 chr 1 NC_000001.11:g.17823071C>T
GRCh37.p13 chr 1 NC_000001.10:g.18149566C>A
GRCh37.p13 chr 1 NC_000001.10:g.18149566C>G
GRCh37.p13 chr 1 NC_000001.10:g.18149566C>T
Gene: ACTL8, actin like 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ACTL8 transcript NM_030812.3:c.63C>A G [GGC] > G [GGA] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Gly21= G (Gly) > G (Gly) Synonymous Variant
ACTL8 transcript NM_030812.3:c.63C>G G [GGC] > G [GGG] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Gly21= G (Gly) > G (Gly) Synonymous Variant
ACTL8 transcript NM_030812.3:c.63C>T G [GGC] > G [GGT] Coding Sequence Variant
actin-like protein 8 NP_110439.2:p.Gly21= G (Gly) > G (Gly) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.63C>A G [GGC] > G [GGA] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Gly21= G (Gly) > G (Gly) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.63C>G G [GGC] > G [GGG] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Gly21= G (Gly) > G (Gly) Synonymous Variant
ACTL8 transcript variant X1 XM_011542212.2:c.63C>T G [GGC] > G [GGT] Coding Sequence Variant
actin-like protein 8 isoform X1 XP_011540514.1:p.Gly21= G (Gly) > G (Gly) 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 179642 C=0.549042 A=0.450958, T=0.000000
European Sub 147736 C=0.552594 A=0.447406, T=0.000000
African Sub 9086 C=0.7085 A=0.2915, T=0.0000
African Others Sub 282 C=0.730 A=0.270, T=0.000
African American Sub 8804 C=0.7077 A=0.2923, T=0.0000
Asian Sub 636 C=0.302 A=0.698, T=0.000
East Asian Sub 466 C=0.320 A=0.680, T=0.000
Other Asian Sub 170 C=0.253 A=0.747, T=0.000
Latin American 1 Sub 1152 C=0.5911 A=0.4089, T=0.0000
Latin American 2 Sub 7908 C=0.3514 A=0.6486, T=0.0000
South Asian Sub 144 C=0.715 A=0.285, T=0.000
Other Sub 12980 C=0.52396 A=0.47604, T=0.00000


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=0.551509 A=0.448491
Allele Frequency Aggregator Total Global 179642 C=0.549042 A=0.450958, T=0.000000
Allele Frequency Aggregator European Sub 147736 C=0.552594 A=0.447406, T=0.000000
Allele Frequency Aggregator Other Sub 12980 C=0.52396 A=0.47604, T=0.00000
Allele Frequency Aggregator African Sub 9086 C=0.7085 A=0.2915, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 7908 C=0.3514 A=0.6486, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1152 C=0.5911 A=0.4089, T=0.0000
Allele Frequency Aggregator Asian Sub 636 C=0.302 A=0.698, T=0.000
Allele Frequency Aggregator South Asian Sub 144 C=0.715 A=0.285, T=0.000
8.3KJPN JAPANESE Study-wide 16760 C=0.30967 A=0.69033
GO Exome Sequencing Project Global Study-wide 13006 C=0.57804 A=0.42196
GO Exome Sequencing Project European American Sub 8600 C=0.5378 A=0.4622
GO Exome Sequencing Project African American Sub 4406 C=0.6566 A=0.3434
1000Genomes Global Study-wide 5008 C=0.5172 A=0.4828
1000Genomes African Sub 1322 C=0.6785 A=0.3215
1000Genomes East Asian Sub 1008 C=0.3135 A=0.6865
1000Genomes Europe Sub 1006 C=0.5268 A=0.4732
1000Genomes South Asian Sub 978 C=0.569 A=0.431
1000Genomes American Sub 694 C=0.419 A=0.581
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.4746 A=0.5254
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.5384 A=0.4616
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5313 A=0.4687
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.3621 A=0.6379
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.4717 A=0.5283
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.315 A=0.685
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.565 A=0.435
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.649 A=0.351
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.575 A=0.425
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.674 A=0.326
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.056 A=0.944
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.21 A=0.79
HapMap Global Study-wide 1888 C=0.5456 A=0.4544
HapMap American Sub 768 C=0.480 A=0.520
HapMap African Sub 692 C=0.688 A=0.312
HapMap Asian Sub 252 C=0.317 A=0.683
HapMap Europe Sub 176 C=0.597 A=0.403
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.513 A=0.487
Chileans Chilean Study-wide 626 C=0.323 A=0.677
A Vietnamese Genetic Variation Database Global Study-wide 614 C=0.309 A=0.691
Northern Sweden ACPOP Study-wide 600 C=0.440 A=0.560
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.612 A=0.388
SGDP_PRJ Global Study-wide 426 C=0.279 A=0.721
FINRISK Finnish from FINRISK project Study-wide 304 C=0.418 A=0.582
Qatari Global Study-wide 216 C=0.588 A=0.412
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 C=0.76 A=0.24
Siberian Global Study-wide 42 C=0.26 A=0.74
The Danish reference pan genome Danish Study-wide 40 C=0.47 A=0.53
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= A G T
GRCh38.p13 chr 1 NC_000001.11:g.17823071= NC_000001.11:g.17823071C>A NC_000001.11:g.17823071C>G NC_000001.11:g.17823071C>T
GRCh37.p13 chr 1 NC_000001.10:g.18149566= NC_000001.10:g.18149566C>A NC_000001.10:g.18149566C>G NC_000001.10:g.18149566C>T
ACTL8 transcript NM_030812.3:c.63= NM_030812.3:c.63C>A NM_030812.3:c.63C>G NM_030812.3:c.63C>T
ACTL8 transcript NM_030812.2:c.63= NM_030812.2:c.63C>A NM_030812.2:c.63C>G NM_030812.2:c.63C>T
ACTL8 transcript variant X1 XM_011542212.2:c.63= XM_011542212.2:c.63C>A XM_011542212.2:c.63C>G XM_011542212.2:c.63C>T
actin-like protein 8 NP_110439.2:p.Gly21= NP_110439.2:p.Gly21= NP_110439.2:p.Gly21= NP_110439.2:p.Gly21=
actin-like protein 8 isoform X1 XP_011540514.1:p.Gly21= XP_011540514.1:p.Gly21= XP_011540514.1:p.Gly21= XP_011540514.1:p.Gly21=
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#.

131 SubSNP, 29 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3240000 Sep 28, 2001 (100)
2 SC_SNP ss13032614 Dec 05, 2003 (119)
3 CGAP-GAI ss16229031 Feb 27, 2004 (120)
4 PERLEGEN ss24236801 Sep 20, 2004 (123)
5 MGC_GENOME_DIFF ss28506921 Sep 24, 2004 (126)
6 ILLUMINA ss65733678 Oct 16, 2006 (127)
7 ILLUMINA ss67640788 Dec 02, 2006 (127)
8 PERLEGEN ss68759904 May 18, 2007 (127)
9 ILLUMINA ss71290704 May 18, 2007 (127)
10 ILLUMINA ss75347897 Dec 06, 2007 (129)
11 AFFY ss76553827 Dec 06, 2007 (129)
12 SI_EXO ss76894693 Dec 06, 2007 (129)
13 HGSV ss81297888 Dec 14, 2007 (130)
14 CORNELL ss86238864 Mar 23, 2008 (129)
15 HUMANGENOME_JCVI ss99190542 Feb 04, 2009 (130)
16 BGI ss105126675 Dec 01, 2009 (131)
17 1000GENOMES ss108026726 Jan 22, 2009 (130)
18 ILLUMINA-UK ss118532055 Feb 14, 2009 (130)
19 KRIBB_YJKIM ss119429165 Dec 01, 2009 (131)
20 ENSEMBL ss143307051 Dec 01, 2009 (131)
21 GMI ss154707746 Dec 01, 2009 (131)
22 SEATTLESEQ ss159696419 Dec 01, 2009 (131)
23 ILLUMINA ss160532005 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss166169406 Jul 04, 2010 (132)
25 ILLUMINA ss173266898 Jul 04, 2010 (132)
26 BUSHMAN ss198099638 Jul 04, 2010 (132)
27 BCM-HGSC-SUB ss205212581 Jul 04, 2010 (132)
28 1000GENOMES ss217314454 Jul 14, 2010 (132)
29 1000GENOMES ss217390904 Jul 14, 2010 (132)
30 1000GENOMES ss217392146 Jul 14, 2010 (132)
31 1000GENOMES ss217400035 Jul 14, 2010 (132)
32 1000GENOMES ss217405933 Jul 14, 2010 (132)
33 1000GENOMES ss217410573 Jul 14, 2010 (132)
34 1000GENOMES ss217411085 Jul 14, 2010 (132)
35 1000GENOMES ss218260972 Jul 14, 2010 (132)
36 1000GENOMES ss230445211 Jul 14, 2010 (132)
37 1000GENOMES ss238156532 Jul 15, 2010 (132)
38 GMI ss275736675 May 04, 2012 (137)
39 GMI ss284010459 Apr 25, 2013 (138)
40 PJP ss290703337 May 09, 2011 (134)
41 NHLBI-ESP ss341939364 May 09, 2011 (134)
42 ILLUMINA ss480517653 May 04, 2012 (137)
43 ILLUMINA ss480531852 May 04, 2012 (137)
44 ILLUMINA ss481342494 Sep 08, 2015 (146)
45 ILLUMINA ss485056185 May 04, 2012 (137)
46 1000GENOMES ss489724883 May 04, 2012 (137)
47 CLINSEQ_SNP ss491587202 May 04, 2012 (137)
48 ILLUMINA ss537072980 Sep 08, 2015 (146)
49 TISHKOFF ss553845492 Apr 25, 2013 (138)
50 SSMP ss647611539 Apr 25, 2013 (138)
51 ILLUMINA ss778864214 Sep 08, 2015 (146)
52 ILLUMINA ss782974304 Sep 08, 2015 (146)
53 ILLUMINA ss783935602 Sep 08, 2015 (146)
54 ILLUMINA ss832230681 Sep 08, 2015 (146)
55 ILLUMINA ss834325041 Sep 08, 2015 (146)
56 JMKIDD_LAB ss974433584 Aug 21, 2014 (142)
57 EVA-GONL ss974903808 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1067417169 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1067703837 Aug 21, 2014 (142)
60 1000GENOMES ss1289872599 Aug 21, 2014 (142)
61 DDI ss1425731156 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1573915278 Apr 01, 2015 (144)
63 EVA_FINRISK ss1584005296 Apr 01, 2015 (144)
64 EVA_DECODE ss1584261091 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1599639504 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1642633537 Apr 01, 2015 (144)
67 EVA_EXAC ss1685351814 Apr 01, 2015 (144)
68 EVA_EXAC ss1685351815 Apr 01, 2015 (144)
69 EVA_MGP ss1710892624 Apr 01, 2015 (144)
70 EVA_SVP ss1712314534 Apr 01, 2015 (144)
71 ILLUMINA ss1751884959 Sep 08, 2015 (146)
72 HAMMER_LAB ss1793990948 Sep 08, 2015 (146)
73 WEILL_CORNELL_DGM ss1918114208 Feb 12, 2016 (147)
74 GENOMED ss1966695387 Jul 19, 2016 (147)
75 JJLAB ss2019568324 Sep 14, 2016 (149)
76 USC_VALOUEV ss2147570708 Dec 20, 2016 (150)
77 HUMAN_LONGEVITY ss2160392588 Dec 20, 2016 (150)
78 TOPMED ss2322573271 Dec 20, 2016 (150)
79 SYSTEMSBIOZJU ss2624300450 Nov 08, 2017 (151)
80 ILLUMINA ss2632483763 Nov 08, 2017 (151)
81 GRF ss2697474667 Nov 08, 2017 (151)
82 GNOMAD ss2731193572 Nov 08, 2017 (151)
83 GNOMAD ss2746240322 Nov 08, 2017 (151)
84 GNOMAD ss2752209884 Nov 08, 2017 (151)
85 SWEGEN ss2986399137 Nov 08, 2017 (151)
86 EVA_SAMSUNG_MC ss3023056434 Nov 08, 2017 (151)
87 BIOINF_KMB_FNS_UNIBA ss3023548755 Nov 08, 2017 (151)
88 TOPMED ss3069887003 Nov 08, 2017 (151)
89 CSHL ss3343346592 Nov 08, 2017 (151)
90 ILLUMINA ss3626037663 Oct 11, 2018 (152)
91 ILLUMINA ss3630521749 Oct 11, 2018 (152)
92 ILLUMINA ss3632882504 Oct 11, 2018 (152)
93 ILLUMINA ss3633576467 Oct 11, 2018 (152)
94 ILLUMINA ss3634309795 Oct 11, 2018 (152)
95 ILLUMINA ss3635270537 Oct 11, 2018 (152)
96 ILLUMINA ss3635986074 Oct 11, 2018 (152)
97 ILLUMINA ss3637020918 Oct 11, 2018 (152)
98 ILLUMINA ss3637740230 Oct 11, 2018 (152)
99 ILLUMINA ss3640017159 Oct 11, 2018 (152)
100 ILLUMINA ss3642753813 Oct 11, 2018 (152)
101 OMUKHERJEE_ADBS ss3646225716 Oct 11, 2018 (152)
102 URBANLAB ss3646612593 Oct 11, 2018 (152)
103 EGCUT_WGS ss3654467823 Jul 12, 2019 (153)
104 EVA_DECODE ss3686261486 Jul 12, 2019 (153)
105 ACPOP ss3726832995 Jul 12, 2019 (153)
106 ILLUMINA ss3744610758 Jul 12, 2019 (153)
107 EVA ss3745887886 Jul 12, 2019 (153)
108 ILLUMINA ss3772112339 Jul 12, 2019 (153)
109 PACBIO ss3783341384 Jul 12, 2019 (153)
110 PACBIO ss3789012721 Jul 12, 2019 (153)
111 PACBIO ss3793885182 Jul 12, 2019 (153)
112 KHV_HUMAN_GENOMES ss3798909738 Jul 12, 2019 (153)
113 EVA ss3823569281 Apr 25, 2020 (154)
114 EVA ss3825517790 Apr 25, 2020 (154)
115 EVA ss3825534943 Apr 25, 2020 (154)
116 EVA ss3825555523 Apr 25, 2020 (154)
117 EVA ss3826048479 Apr 25, 2020 (154)
118 EVA ss3836412325 Apr 25, 2020 (154)
119 EVA ss3841816643 Apr 25, 2020 (154)
120 HGDP ss3847325865 Apr 25, 2020 (154)
121 SGDP_PRJ ss3848319815 Apr 25, 2020 (154)
122 KRGDB ss3893224212 Apr 25, 2020 (154)
123 FSA-LAB ss3983920046 Apr 27, 2021 (155)
124 FSA-LAB ss3983920047 Apr 27, 2021 (155)
125 EVA ss3984781347 Apr 27, 2021 (155)
126 EVA ss3986009371 Apr 27, 2021 (155)
127 EVA ss3986103758 Apr 27, 2021 (155)
128 TOPMED ss4440758592 Apr 27, 2021 (155)
129 TOMMO_GENOMICS ss5142738860 Apr 27, 2021 (155)
130 EVA ss5236865368 Apr 27, 2021 (155)
131 EVA ss5237160041 Apr 27, 2021 (155)
132 1000Genomes NC_000001.10 - 18149566 Oct 11, 2018 (152)
133 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 18149566 Oct 11, 2018 (152)
134 Chileans NC_000001.10 - 18149566 Apr 25, 2020 (154)
135 Genetic variation in the Estonian population NC_000001.10 - 18149566 Oct 11, 2018 (152)
136 ExAC

Submission ignored due to conflicting rows:
Row 4534428 (NC_000001.10:18149565:C:C 61013/121268, NC_000001.10:18149565:C:A 60255/121268)
Row 4534429 (NC_000001.10:18149565:C:C 121266/121268, NC_000001.10:18149565:C:G 2/121268)

- Oct 11, 2018 (152)
137 ExAC

Submission ignored due to conflicting rows:
Row 4534428 (NC_000001.10:18149565:C:C 61013/121268, NC_000001.10:18149565:C:A 60255/121268)
Row 4534429 (NC_000001.10:18149565:C:C 121266/121268, NC_000001.10:18149565:C:G 2/121268)

- Oct 11, 2018 (152)
138 FINRISK NC_000001.10 - 18149566 Apr 25, 2020 (154)
139 The Danish reference pan genome NC_000001.10 - 18149566 Apr 25, 2020 (154)
140 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 3884667 (NC_000001.11:17823070:C:A 63272/140068)
Row 3884669 (NC_000001.11:17823070:C:T 1/140128)

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

Submission ignored due to conflicting rows:
Row 3884667 (NC_000001.11:17823070:C:A 63272/140068)
Row 3884669 (NC_000001.11:17823070:C:T 1/140128)

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

Submission ignored due to conflicting rows:
Row 206138 (NC_000001.10:18149565:C:C 123188/251260, NC_000001.10:18149565:C:A 128072/251260)
Row 206139 (NC_000001.10:18149565:C:C 251258/251260, NC_000001.10:18149565:C:G 2/251260)
Row 206140 (NC_000001.10:18149565:C:C 251259/251260, NC_000001.10:18149565:C:T 1/251260)

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

Submission ignored due to conflicting rows:
Row 206138 (NC_000001.10:18149565:C:C 123188/251260, NC_000001.10:18149565:C:A 128072/251260)
Row 206139 (NC_000001.10:18149565:C:C 251258/251260, NC_000001.10:18149565:C:G 2/251260)
Row 206140 (NC_000001.10:18149565:C:C 251259/251260, NC_000001.10:18149565:C:T 1/251260)

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

Submission ignored due to conflicting rows:
Row 206138 (NC_000001.10:18149565:C:C 123188/251260, NC_000001.10:18149565:C:A 128072/251260)
Row 206139 (NC_000001.10:18149565:C:C 251258/251260, NC_000001.10:18149565:C:G 2/251260)
Row 206140 (NC_000001.10:18149565:C:C 251259/251260, NC_000001.10:18149565:C:T 1/251260)

- Jul 12, 2019 (153)
145 GO Exome Sequencing Project NC_000001.10 - 18149566 Oct 11, 2018 (152)
146 Genome of the Netherlands Release 5 NC_000001.10 - 18149566 Apr 25, 2020 (154)
147 HGDP-CEPH-db Supplement 1 NC_000001.9 - 18022153 Apr 25, 2020 (154)
148 HapMap NC_000001.11 - 17823071 Apr 25, 2020 (154)
149 KOREAN population from KRGDB NC_000001.10 - 18149566 Apr 25, 2020 (154)
150 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 18149566 Apr 25, 2020 (154)
151 Northern Sweden NC_000001.10 - 18149566 Jul 12, 2019 (153)
152 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 18149566 Apr 27, 2021 (155)
153 Qatari NC_000001.10 - 18149566 Apr 25, 2020 (154)
154 SGDP_PRJ NC_000001.10 - 18149566 Apr 25, 2020 (154)
155 Siberian NC_000001.10 - 18149566 Apr 25, 2020 (154)
156 8.3KJPN NC_000001.10 - 18149566 Apr 27, 2021 (155)
157 TopMed NC_000001.11 - 17823071 Apr 27, 2021 (155)
158 UK 10K study - Twins NC_000001.10 - 18149566 Oct 11, 2018 (152)
159 A Vietnamese Genetic Variation Database NC_000001.10 - 18149566 Jul 12, 2019 (153)
160 ALFA NC_000001.11 - 17823071 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)
rs17356562 Oct 07, 2004 (123)
rs17852619 Mar 11, 2006 (126)
rs57101013 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81297888 NC_000001.8:17894871:C:A NC_000001.11:17823070:C:A (self)
3757, ss108026726, ss118532055, ss166169406, ss198099638, ss205212581, ss217314454, ss217390904, ss217392146, ss217400035, ss217405933, ss217410573, ss217411085, ss275736675, ss284010459, ss290703337, ss480517653, ss491587202, ss1584261091, ss1712314534, ss3642753813, ss3847325865 NC_000001.9:18022152:C:A NC_000001.11:17823070:C:A (self)
555239, 287512, 2704, 206071, 1757, 1408801, 27999, 125557, 401606, 9376, 117860, 7274, 156138, 336795, 87062, 708167, 287512, 61348, ss218260972, ss230445211, ss238156532, ss341939364, ss480531852, ss481342494, ss485056185, ss489724883, ss537072980, ss553845492, ss647611539, ss778864214, ss782974304, ss783935602, ss832230681, ss834325041, ss974433584, ss974903808, ss1067417169, ss1067703837, ss1289872599, ss1425731156, ss1573915278, ss1584005296, ss1599639504, ss1642633537, ss1685351814, ss1710892624, ss1751884959, ss1793990948, ss1918114208, ss1966695387, ss2019568324, ss2147570708, ss2322573271, ss2624300450, ss2632483763, ss2697474667, ss2731193572, ss2746240322, ss2752209884, ss2986399137, ss3023056434, ss3343346592, ss3626037663, ss3630521749, ss3632882504, ss3633576467, ss3634309795, ss3635270537, ss3635986074, ss3637020918, ss3637740230, ss3640017159, ss3646225716, ss3654467823, ss3726832995, ss3744610758, ss3745887886, ss3772112339, ss3783341384, ss3789012721, ss3793885182, ss3823569281, ss3825517790, ss3825534943, ss3825555523, ss3826048479, ss3836412325, ss3848319815, ss3893224212, ss3983920046, ss3983920047, ss3984781347, ss3986009371, ss3986103758, ss5142738860 NC_000001.10:18149565:C:A NC_000001.11:17823070:C:A (self)
21754, 2740542, 4364927, 140822691, ss2160392588, ss3023548755, ss3069887003, ss3646612593, ss3686261486, ss3798909738, ss3841816643, ss4440758592, ss5236865368, ss5237160041 NC_000001.11:17823070:C:A NC_000001.11:17823070:C:A (self)
ss76894693 NT_004610.18:973907:C:A NC_000001.11:17823070:C:A (self)
ss3240000, ss16229031, ss24236801, ss28506921, ss65733678, ss67640788, ss68759904, ss71290704, ss75347897, ss76553827, ss86238864, ss99190542, ss105126675, ss119429165, ss143307051, ss154707746, ss159696419, ss160532005, ss173266898 NT_004610.19:4829653:C:A NC_000001.11:17823070:C:A (self)
ss13032614 NT_030584.9:973907:C:A NC_000001.11:17823070:C:A (self)
ss1685351815, ss2731193572 NC_000001.10:18149565:C:G NC_000001.11:17823070:C:G (self)
ss2746240322, ss2752209884 NC_000001.10:18149565:C:T NC_000001.11:17823070:C:T (self)
140822691, ss2160392588 NC_000001.11:17823070:C:T NC_000001.11:17823070: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 rs2296035

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