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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.

rs3766988

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:181698147 (GRCh38.p14) 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=0.122713 (32481/264690, TOPMED)
G=0.132038 (27889/211220, ALFA)
G=0.129625 (26583/205076, GENOGRAPHIC) (+ 21 more)
G=0.123219 (17280/140238, GnomAD)
G=0.03065 (866/28256, 14KJPN)
G=0.02924 (490/16760, 8.3KJPN)
G=0.0984 (630/6404, 1000G_30x)
G=0.0956 (479/5008, 1000G)
G=0.1326 (594/4480, Estonian)
G=0.1331 (513/3854, ALSPAC)
G=0.1327 (492/3708, TWINSUK)
G=0.0102 (30/2930, KOREAN)
G=0.1272 (265/2084, HGDP_Stanford)
G=0.0817 (154/1886, HapMap)
G=0.127 (127/998, GoNL)
G=0.227 (142/626, Chileans)
G=0.180 (108/600, NorthernSweden)
G=0.102 (22/216, Qatari)
G=0.029 (6/210, Vietnamese)
A=0.46 (42/92, SGDP_PRJ)
G=0.17 (10/58, Ancient Sardinia)
G=0.05 (2/40, GENOME_DK)
A=0.5 (5/10, Siberian)
G=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CACNA1E : Intron Variant
Publications
1 citation
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 211220 A=0.867962 G=0.132038
European Sub 180084 A=0.867784 G=0.132216
African Sub 7762 A=0.9065 G=0.0935
African Others Sub 276 A=0.935 G=0.065
African American Sub 7486 A=0.9054 G=0.0946
Asian Sub 750 A=0.965 G=0.035
East Asian Sub 572 A=0.976 G=0.024
Other Asian Sub 178 A=0.933 G=0.067
Latin American 1 Sub 990 A=0.859 G=0.141
Latin American 2 Sub 9060 A=0.8198 G=0.1802
South Asian Sub 5054 A=0.8872 G=0.1128
Other Sub 7520 A=0.8691 G=0.1309


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=0.877287 G=0.122713
Allele Frequency Aggregator Total Global 211220 A=0.867962 G=0.132038
Allele Frequency Aggregator European Sub 180084 A=0.867784 G=0.132216
Allele Frequency Aggregator Latin American 2 Sub 9060 A=0.8198 G=0.1802
Allele Frequency Aggregator African Sub 7762 A=0.9065 G=0.0935
Allele Frequency Aggregator Other Sub 7520 A=0.8691 G=0.1309
Allele Frequency Aggregator South Asian Sub 5054 A=0.8872 G=0.1128
Allele Frequency Aggregator Latin American 1 Sub 990 A=0.859 G=0.141
Allele Frequency Aggregator Asian Sub 750 A=0.965 G=0.035
Genographic Project Global Study-wide 205076 A=0.870375 G=0.129625
gnomAD - Genomes Global Study-wide 140238 A=0.876781 G=0.123219
gnomAD - Genomes European Sub 75940 A=0.86471 G=0.13529
gnomAD - Genomes African Sub 42044 A=0.90205 G=0.09795
gnomAD - Genomes American Sub 13648 A=0.83976 G=0.16024
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.8910 G=0.1090
gnomAD - Genomes East Asian Sub 3130 A=0.9834 G=0.0166
gnomAD - Genomes Other Sub 2154 A=0.8668 G=0.1332
14KJPN JAPANESE Study-wide 28256 A=0.96935 G=0.03065
8.3KJPN JAPANESE Study-wide 16760 A=0.97076 G=0.02924
1000Genomes_30x Global Study-wide 6404 A=0.9016 G=0.0984
1000Genomes_30x African Sub 1786 A=0.9071 G=0.0929
1000Genomes_30x Europe Sub 1266 A=0.8712 G=0.1288
1000Genomes_30x South Asian Sub 1202 A=0.8952 G=0.1048
1000Genomes_30x East Asian Sub 1170 A=0.9761 G=0.0239
1000Genomes_30x American Sub 980 A=0.850 G=0.150
1000Genomes Global Study-wide 5008 A=0.9044 G=0.0956
1000Genomes African Sub 1322 A=0.9100 G=0.0900
1000Genomes East Asian Sub 1008 A=0.9762 G=0.0238
1000Genomes Europe Sub 1006 A=0.8728 G=0.1272
1000Genomes South Asian Sub 978 A=0.897 G=0.103
1000Genomes American Sub 694 A=0.846 G=0.154
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8674 G=0.1326
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8669 G=0.1331
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8673 G=0.1327
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9898 G=0.0102
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.8728 G=0.1272
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.979 G=0.021
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.867 G=0.133
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.863 G=0.137
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.859 G=0.141
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.876 G=0.124
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.648 G=0.352
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.99 G=0.01
HapMap Global Study-wide 1886 A=0.9183 G=0.0817
HapMap American Sub 766 A=0.906 G=0.094
HapMap African Sub 690 A=0.920 G=0.080
HapMap Asian Sub 254 A=0.972 G=0.028
HapMap Europe Sub 176 A=0.886 G=0.114
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.873 G=0.127
Chileans Chilean Study-wide 626 A=0.773 G=0.227
Northern Sweden ACPOP Study-wide 600 A=0.820 G=0.180
Qatari Global Study-wide 216 A=0.898 G=0.102
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.971 G=0.029
SGDP_PRJ Global Study-wide 92 A=0.46 G=0.54
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 58 A=0.83 G=0.17
The Danish reference pan genome Danish Study-wide 40 A=0.95 G=0.05
Siberian Global Study-wide 10 A=0.5 G=0.5
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.p14 chr 1 NC_000001.11:g.181698147A>G
GRCh37.p13 chr 1 NC_000001.10:g.181667283A>G
CACNA1E RefSeqGene NG_050616.1:g.219837A>G
Gene: CACNA1E, calcium voltage-gated channel subunit alpha1 E (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CACNA1E transcript variant 3 NM_000721.4:c.1056-12807A…

NM_000721.4:c.1056-12807A>G

N/A Intron Variant
CACNA1E transcript variant 1 NM_001205293.3:c.1056-128…

NM_001205293.3:c.1056-12807A>G

N/A Intron Variant
CACNA1E transcript variant 2 NM_001205294.2:c.1056-128…

NM_001205294.2:c.1056-12807A>G

N/A Intron Variant
CACNA1E transcript variant X1 XM_017002243.2:c.1491-128…

XM_017002243.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X2 XM_017002244.2:c.1491-128…

XM_017002244.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X3 XM_017002245.2:c.1491-128…

XM_017002245.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X4 XM_017002246.2:c.1491-128…

XM_017002246.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X5 XM_017002247.2:c.1491-128…

XM_017002247.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X6 XM_017002248.2:c.1491-128…

XM_017002248.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X8 XM_017002249.2:c.1491-128…

XM_017002249.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X9 XM_017002250.2:c.1491-128…

XM_017002250.2:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X10 XM_017002251.1:c.1491-128…

XM_017002251.1:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X7 XM_047429979.1:c.1491-128…

XM_047429979.1:c.1491-12807A>G

N/A Intron Variant
CACNA1E transcript variant X11 XM_047429980.1:c.1491-128…

XM_047429980.1:c.1491-12807A>G

N/A Intron 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
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.p14 chr 1 NC_000001.11:g.181698147= NC_000001.11:g.181698147A>G
GRCh37.p13 chr 1 NC_000001.10:g.181667283= NC_000001.10:g.181667283A>G
CACNA1E RefSeqGene NG_050616.1:g.219837= NG_050616.1:g.219837A>G
CACNA1E transcript variant 3 NM_000721.3:c.1056-12807= NM_000721.3:c.1056-12807A>G
CACNA1E transcript variant 3 NM_000721.4:c.1056-12807= NM_000721.4:c.1056-12807A>G
CACNA1E transcript variant 1 NM_001205293.1:c.1056-12807= NM_001205293.1:c.1056-12807A>G
CACNA1E transcript variant 1 NM_001205293.3:c.1056-12807= NM_001205293.3:c.1056-12807A>G
CACNA1E transcript variant 2 NM_001205294.1:c.1056-12807= NM_001205294.1:c.1056-12807A>G
CACNA1E transcript variant 2 NM_001205294.2:c.1056-12807= NM_001205294.2:c.1056-12807A>G
CACNA1E transcript variant X1 XM_005245477.1:c.1056-12807= XM_005245477.1:c.1056-12807A>G
CACNA1E transcript variant X1 XM_017002243.2:c.1491-12807= XM_017002243.2:c.1491-12807A>G
CACNA1E transcript variant X2 XM_017002244.2:c.1491-12807= XM_017002244.2:c.1491-12807A>G
CACNA1E transcript variant X3 XM_017002245.2:c.1491-12807= XM_017002245.2:c.1491-12807A>G
CACNA1E transcript variant X4 XM_017002246.2:c.1491-12807= XM_017002246.2:c.1491-12807A>G
CACNA1E transcript variant X5 XM_017002247.2:c.1491-12807= XM_017002247.2:c.1491-12807A>G
CACNA1E transcript variant X6 XM_017002248.2:c.1491-12807= XM_017002248.2:c.1491-12807A>G
CACNA1E transcript variant X8 XM_017002249.2:c.1491-12807= XM_017002249.2:c.1491-12807A>G
CACNA1E transcript variant X9 XM_017002250.2:c.1491-12807= XM_017002250.2:c.1491-12807A>G
CACNA1E transcript variant X10 XM_017002251.1:c.1491-12807= XM_017002251.1:c.1491-12807A>G
CACNA1E transcript variant X7 XM_047429979.1:c.1491-12807= XM_047429979.1:c.1491-12807A>G
CACNA1E transcript variant X11 XM_047429980.1:c.1491-12807= XM_047429980.1:c.1491-12807A>G
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#.

116 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss61577 Oct 08, 2002 (108)
2 TSC-CSHL ss1456882 Oct 08, 2002 (108)
3 YUSUKE ss4953031 Aug 28, 2002 (107)
4 SC_JCM ss5826707 Feb 20, 2003 (111)
5 WI_SSAHASNP ss11424146 Jul 11, 2003 (116)
6 PERLEGEN ss23224517 Sep 20, 2004 (123)
7 ABI ss41179431 Mar 14, 2006 (126)
8 AFFY ss65982014 Dec 02, 2006 (127)
9 AFFY ss66234433 Dec 02, 2006 (127)
10 ILLUMINA ss66840375 Dec 02, 2006 (127)
11 ILLUMINA ss67301040 Dec 02, 2006 (127)
12 ILLUMINA ss67705813 Dec 02, 2006 (127)
13 ILLUMINA ss70779677 May 25, 2008 (130)
14 ILLUMINA ss71355989 May 18, 2007 (127)
15 ILLUMINA ss75876051 Dec 07, 2007 (129)
16 AFFY ss76380291 Dec 07, 2007 (129)
17 ILLUMINA ss79165873 Dec 15, 2007 (130)
18 HGSV ss84098360 Dec 15, 2007 (130)
19 KRIBB_YJKIM ss84175627 Dec 15, 2007 (130)
20 ILLUMINA ss122214890 Dec 01, 2009 (131)
21 ILLUMINA ss154267018 Dec 01, 2009 (131)
22 ILLUMINA ss159443824 Dec 01, 2009 (131)
23 ILLUMINA ss160638989 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167339225 Jul 04, 2010 (132)
25 ILLUMINA ss171640876 Jul 04, 2010 (132)
26 AFFY ss173428502 Jul 04, 2010 (132)
27 ILLUMINA ss173631065 Jul 04, 2010 (132)
28 BUSHMAN ss199321431 Jul 04, 2010 (132)
29 1000GENOMES ss210468630 Jul 14, 2010 (132)
30 1000GENOMES ss210684759 Jul 14, 2010 (132)
31 1000GENOMES ss218751678 Jul 14, 2010 (132)
32 1000GENOMES ss230806121 Jul 14, 2010 (132)
33 PJP ss290675764 May 09, 2011 (134)
34 ILLUMINA ss480824186 May 04, 2012 (137)
35 ILLUMINA ss480839937 May 04, 2012 (137)
36 ILLUMINA ss481770687 Sep 08, 2015 (146)
37 ILLUMINA ss485206889 May 04, 2012 (137)
38 ILLUMINA ss537191334 Sep 08, 2015 (146)
39 TISHKOFF ss554917130 Apr 25, 2013 (138)
40 SSMP ss648538675 Apr 25, 2013 (138)
41 ILLUMINA ss778895412 Aug 21, 2014 (142)
42 ILLUMINA ss783049429 Aug 21, 2014 (142)
43 ILLUMINA ss784008029 Aug 21, 2014 (142)
44 ILLUMINA ss825496391 Apr 01, 2015 (144)
45 ILLUMINA ss832307259 Apr 01, 2015 (144)
46 ILLUMINA ss832955392 Aug 21, 2014 (142)
47 ILLUMINA ss833546221 Aug 21, 2014 (142)
48 ILLUMINA ss834356598 Aug 21, 2014 (142)
49 EVA-GONL ss975879204 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1068413029 Aug 21, 2014 (142)
51 1000GENOMES ss1293676080 Aug 21, 2014 (142)
52 EVA_GENOME_DK ss1574517921 Apr 01, 2015 (144)
53 EVA_DECODE ss1585269901 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1601615781 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1644609814 Apr 01, 2015 (144)
56 EVA_SVP ss1712386434 Apr 01, 2015 (144)
57 ILLUMINA ss1751885031 Sep 08, 2015 (146)
58 HAMMER_LAB ss1795363395 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1919116023 Feb 12, 2016 (147)
60 GENOMED ss1966912646 Jul 19, 2016 (147)
61 JJLAB ss2020074234 Sep 14, 2016 (149)
62 USC_VALOUEV ss2148101923 Dec 20, 2016 (150)
63 HUMAN_LONGEVITY ss2168074851 Dec 20, 2016 (150)
64 ILLUMINA ss2632600583 Nov 08, 2017 (151)
65 GRF ss2698083634 Nov 08, 2017 (151)
66 GNOMAD ss2763441944 Nov 08, 2017 (151)
67 AFFY ss2984887177 Nov 08, 2017 (151)
68 AFFY ss2985532347 Nov 08, 2017 (151)
69 SWEGEN ss2988054070 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3023796852 Nov 08, 2017 (151)
71 CSHL ss3343798999 Nov 08, 2017 (151)
72 ILLUMINA ss3626254670 Oct 11, 2018 (152)
73 ILLUMINA ss3630631963 Oct 11, 2018 (152)
74 ILLUMINA ss3632917367 Oct 11, 2018 (152)
75 ILLUMINA ss3633613036 Oct 11, 2018 (152)
76 ILLUMINA ss3634361377 Oct 11, 2018 (152)
77 ILLUMINA ss3635306327 Oct 11, 2018 (152)
78 ILLUMINA ss3636040257 Oct 11, 2018 (152)
79 ILLUMINA ss3637056839 Oct 11, 2018 (152)
80 ILLUMINA ss3637799937 Oct 11, 2018 (152)
81 ILLUMINA ss3638915978 Oct 11, 2018 (152)
82 ILLUMINA ss3639456454 Oct 11, 2018 (152)
83 ILLUMINA ss3640068731 Oct 11, 2018 (152)
84 ILLUMINA ss3640989539 Oct 11, 2018 (152)
85 ILLUMINA ss3641283612 Oct 11, 2018 (152)
86 ILLUMINA ss3642807848 Oct 11, 2018 (152)
87 ILLUMINA ss3653656553 Oct 11, 2018 (152)
88 EGCUT_WGS ss3656003140 Jul 12, 2019 (153)
89 EVA_DECODE ss3688147646 Jul 12, 2019 (153)
90 ACPOP ss3727648723 Jul 12, 2019 (153)
91 ILLUMINA ss3744662244 Jul 12, 2019 (153)
92 EVA ss3747037301 Jul 12, 2019 (153)
93 ILLUMINA ss3772163266 Jul 12, 2019 (153)
94 KHV_HUMAN_GENOMES ss3800038245 Jul 12, 2019 (153)
95 EVA ss3826521836 Apr 25, 2020 (154)
96 HGDP ss3847355882 Apr 25, 2020 (154)
97 SGDP_PRJ ss3850391497 Apr 25, 2020 (154)
98 KRGDB ss3895650123 Apr 25, 2020 (154)
99 EVA ss3984837755 Apr 25, 2021 (155)
100 EVA ss4016949305 Apr 25, 2021 (155)
101 TOPMED ss4474920876 Apr 25, 2021 (155)
102 TOMMO_GENOMICS ss5147328651 Apr 25, 2021 (155)
103 1000G_HIGH_COVERAGE ss5244942268 Oct 12, 2022 (156)
104 GENOGRAPHIC ss5314469562 Oct 12, 2022 (156)
105 EVA ss5314665357 Oct 12, 2022 (156)
106 EVA ss5323239105 Oct 12, 2022 (156)
107 HUGCELL_USP ss5445462564 Oct 12, 2022 (156)
108 1000G_HIGH_COVERAGE ss5518598479 Oct 12, 2022 (156)
109 SANFORD_IMAGENETICS ss5626961882 Oct 12, 2022 (156)
110 TOMMO_GENOMICS ss5674771821 Oct 12, 2022 (156)
111 EVA ss5799504876 Oct 12, 2022 (156)
112 YY_MCH ss5801422060 Oct 12, 2022 (156)
113 EVA ss5832923067 Oct 12, 2022 (156)
114 EVA ss5849182823 Oct 12, 2022 (156)
115 EVA ss5910994020 Oct 12, 2022 (156)
116 EVA ss5938775436 Oct 12, 2022 (156)
117 1000Genomes NC_000001.10 - 181667283 Oct 11, 2018 (152)
118 1000Genomes_30x NC_000001.11 - 181698147 Oct 12, 2022 (156)
119 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 181667283 Oct 11, 2018 (152)
120 Chileans NC_000001.10 - 181667283 Apr 25, 2020 (154)
121 Genetic variation in the Estonian population NC_000001.10 - 181667283 Oct 11, 2018 (152)
122 Genographic Project NC_000001.11 - 181698147 Oct 12, 2022 (156)
123 The Danish reference pan genome NC_000001.10 - 181667283 Apr 25, 2020 (154)
124 gnomAD - Genomes NC_000001.11 - 181698147 Apr 25, 2021 (155)
125 Genome of the Netherlands Release 5 NC_000001.10 - 181667283 Apr 25, 2020 (154)
126 HGDP-CEPH-db Supplement 1 NC_000001.9 - 179933906 Apr 25, 2020 (154)
127 HapMap NC_000001.11 - 181698147 Apr 25, 2020 (154)
128 KOREAN population from KRGDB NC_000001.10 - 181667283 Apr 25, 2020 (154)
129 Northern Sweden NC_000001.10 - 181667283 Jul 12, 2019 (153)
130 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 181667283 Apr 25, 2021 (155)
131 Qatari NC_000001.10 - 181667283 Apr 25, 2020 (154)
132 SGDP_PRJ NC_000001.10 - 181667283 Apr 25, 2020 (154)
133 Siberian NC_000001.10 - 181667283 Apr 25, 2020 (154)
134 8.3KJPN NC_000001.10 - 181667283 Apr 25, 2021 (155)
135 14KJPN NC_000001.11 - 181698147 Oct 12, 2022 (156)
136 TopMed NC_000001.11 - 181698147 Apr 25, 2021 (155)
137 UK 10K study - Twins NC_000001.10 - 181667283 Oct 11, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000001.10 - 181667283 Jul 12, 2019 (153)
139 ALFA NC_000001.11 - 181698147 Apr 25, 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)
rs59427890 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84098360, ss3638915978, ss3639456454 NC_000001.8:178398939:A:G NC_000001.11:181698146:A:G (self)
33774, ss160638989, ss167339225, ss199321431, ss210468630, ss210684759, ss290675764, ss480824186, ss825496391, ss1585269901, ss1712386434, ss3642807848, ss3847355882 NC_000001.9:179933905:A:G NC_000001.11:181698146:A:G (self)
4494380, 2462195, 26446, 1741388, 1785398, 1069511, 2827517, 933588, 63682, 1157953, 2408477, 618277, 5297958, 2462195, 527945, ss218751678, ss230806121, ss480839937, ss481770687, ss485206889, ss537191334, ss554917130, ss648538675, ss778895412, ss783049429, ss784008029, ss832307259, ss832955392, ss833546221, ss834356598, ss975879204, ss1068413029, ss1293676080, ss1574517921, ss1601615781, ss1644609814, ss1751885031, ss1795363395, ss1919116023, ss1966912646, ss2020074234, ss2148101923, ss2632600583, ss2698083634, ss2763441944, ss2984887177, ss2985532347, ss2988054070, ss3343798999, ss3626254670, ss3630631963, ss3632917367, ss3633613036, ss3634361377, ss3635306327, ss3636040257, ss3637056839, ss3637799937, ss3640068731, ss3640989539, ss3641283612, ss3653656553, ss3656003140, ss3727648723, ss3744662244, ss3747037301, ss3772163266, ss3826521836, ss3850391497, ss3895650123, ss3984837755, ss4016949305, ss5147328651, ss5314665357, ss5323239105, ss5626961882, ss5799504876, ss5832923067, ss5938775436 NC_000001.10:181667282:A:G NC_000001.11:181698146:A:G (self)
6124414, 9540, 32459475, 216574, 8608925, 38527211, 151487353, ss2168074851, ss3023796852, ss3688147646, ss3800038245, ss4474920876, ss5244942268, ss5314469562, ss5445462564, ss5518598479, ss5674771821, ss5801422060, ss5849182823, ss5910994020 NC_000001.11:181698146:A:G NC_000001.11:181698146:A:G (self)
ss11424146 NT_004487.15:10460319:A:G NC_000001.11:181698146:A:G (self)
ss61577, ss1456882, ss4953031, ss5826707, ss23224517, ss41179431, ss65982014, ss66234433, ss66840375, ss67301040, ss67705813, ss70779677, ss71355989, ss75876051, ss76380291, ss79165873, ss84175627, ss122214890, ss154267018, ss159443824, ss171640876, ss173428502, ss173631065 NT_004487.19:33155924:A:G NC_000001.11:181698146: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.

1 citation for rs3766988
PMID Title Author Year Journal
23940630 Association between genetic polymorphisms in Ca(v)2.3 (R-type) Ca2+ channels and fentanyl sensitivity in patients undergoing painful cosmetic surgery. Ide S et al. 2013 PloS one
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.post761+d5e8e07