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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs4762004

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:51714914 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.250871 (66403/264690, TOPMED)
A=0.144054 (29542/205076, GENOGRAPHIC)
A=0.241845 (33884/140106, GnomAD) (+ 20 more)
A=0.17283 (12835/74264, ALFA)
A=0.06391 (1806/28258, 14KJPN)
A=0.06408 (1074/16760, 8.3KJPN)
A=0.3081 (1973/6404, 1000G_30x)
A=0.3011 (1508/5008, 1000G)
A=0.0850 (381/4480, Estonian)
A=0.1331 (513/3854, ALSPAC)
A=0.1243 (461/3708, TWINSUK)
A=0.0949 (278/2930, KOREAN)
A=0.2692 (560/2080, HGDP_Stanford)
A=0.3254 (615/1890, HapMap)
A=0.0912 (167/1832, Korea1K)
A=0.123 (123/998, GoNL)
A=0.155 (93/600, NorthernSweden)
A=0.172 (85/494, SGDP_PRJ)
A=0.292 (63/216, Qatari)
A=0.093 (20/216, Vietnamese)
A=0.10 (6/62, Ancient Sardinia)
A=0.05 (3/56, Siberian)
A=0.10 (4/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SCN8A : 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 74264 A=0.17283 G=0.82717
European Sub 57992 A=0.12436 G=0.87564
African Sub 5198 A=0.5052 G=0.4948
African Others Sub 182 A=0.610 G=0.390
African American Sub 5016 A=0.5014 G=0.4986
Asian Sub 238 A=0.118 G=0.882
East Asian Sub 164 A=0.091 G=0.909
Other Asian Sub 74 A=0.18 G=0.82
Latin American 1 Sub 400 A=0.250 G=0.750
Latin American 2 Sub 3390 A=0.1245 G=0.8755
South Asian Sub 4966 A=0.4050 G=0.5950
Other Sub 2080 A=0.2096 G=0.7904


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=0.250871 G=0.749129
Genographic Project Global Study-wide 205076 A=0.144054 G=0.855946
gnomAD - Genomes Global Study-wide 140106 A=0.241845 G=0.758155
gnomAD - Genomes European Sub 75926 A=0.11877 G=0.88123
gnomAD - Genomes African Sub 41918 A=0.50780 G=0.49220
gnomAD - Genomes American Sub 13652 A=0.15331 G=0.84669
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.2112 G=0.7888
gnomAD - Genomes East Asian Sub 3132 A=0.0996 G=0.9004
gnomAD - Genomes Other Sub 2154 A=0.2196 G=0.7804
Allele Frequency Aggregator Total Global 74264 A=0.17283 G=0.82717
Allele Frequency Aggregator European Sub 57992 A=0.12436 G=0.87564
Allele Frequency Aggregator African Sub 5198 A=0.5052 G=0.4948
Allele Frequency Aggregator South Asian Sub 4966 A=0.4050 G=0.5950
Allele Frequency Aggregator Latin American 2 Sub 3390 A=0.1245 G=0.8755
Allele Frequency Aggregator Other Sub 2080 A=0.2096 G=0.7904
Allele Frequency Aggregator Latin American 1 Sub 400 A=0.250 G=0.750
Allele Frequency Aggregator Asian Sub 238 A=0.118 G=0.882
14KJPN JAPANESE Study-wide 28258 A=0.06391 G=0.93609
8.3KJPN JAPANESE Study-wide 16760 A=0.06408 G=0.93592
1000Genomes_30x Global Study-wide 6404 A=0.3081 G=0.6919
1000Genomes_30x African Sub 1786 A=0.5683 G=0.4317
1000Genomes_30x Europe Sub 1266 A=0.1414 G=0.8586
1000Genomes_30x South Asian Sub 1202 A=0.4468 G=0.5532
1000Genomes_30x East Asian Sub 1170 A=0.1043 G=0.8957
1000Genomes_30x American Sub 980 A=0.122 G=0.878
1000Genomes Global Study-wide 5008 A=0.3011 G=0.6989
1000Genomes African Sub 1322 A=0.5575 G=0.4425
1000Genomes East Asian Sub 1008 A=0.1052 G=0.8948
1000Genomes Europe Sub 1006 A=0.1412 G=0.8588
1000Genomes South Asian Sub 978 A=0.444 G=0.556
1000Genomes American Sub 694 A=0.128 G=0.872
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.0850 G=0.9150
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1331 G=0.8669
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1243 G=0.8757
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0949 C=0.0000, G=0.9051, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2080 A=0.2692 G=0.7308
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.111 G=0.889
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.362 G=0.638
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 A=0.290 G=0.710
HGDP-CEPH-db Supplement 1 Europe Sub 318 A=0.164 G=0.836
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.583 G=0.417
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.083 G=0.917
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.64 G=0.36
HapMap Global Study-wide 1890 A=0.3254 G=0.6746
HapMap American Sub 768 A=0.255 G=0.745
HapMap African Sub 692 A=0.519 G=0.481
HapMap Asian Sub 254 A=0.094 G=0.906
HapMap Europe Sub 176 A=0.205 G=0.795
Korean Genome Project KOREAN Study-wide 1832 A=0.0912 G=0.9088
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.123 G=0.877
Northern Sweden ACPOP Study-wide 600 A=0.155 G=0.845
SGDP_PRJ Global Study-wide 494 A=0.172 G=0.828
Qatari Global Study-wide 216 A=0.292 G=0.708
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.093 G=0.907
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 62 A=0.10 G=0.90
Siberian Global Study-wide 56 A=0.05 G=0.95
The Danish reference pan genome Danish Study-wide 40 A=0.10 G=0.90
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 12 NC_000012.12:g.51714914A>C
GRCh38.p14 chr 12 NC_000012.12:g.51714914A>G
GRCh38.p14 chr 12 NC_000012.12:g.51714914A>T
GRCh37.p13 chr 12 NC_000012.11:g.52108698A>C
GRCh37.p13 chr 12 NC_000012.11:g.52108698A>G
GRCh37.p13 chr 12 NC_000012.11:g.52108698A>T
SCN8A RefSeqGene (LRG_1389) NG_021180.3:g.129957A>C
SCN8A RefSeqGene (LRG_1389) NG_021180.3:g.129957A>G
SCN8A RefSeqGene (LRG_1389) NG_021180.3:g.129957A>T
Gene: SCN8A, sodium voltage-gated channel alpha subunit 8 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SCN8A transcript variant 2 NM_001177984.3:c.1636-663…

NM_001177984.3:c.1636-6632A>C

 		N/A Intron Variant
SCN8A transcript variant 3 NM_001330260.2:c.1636-663…

NM_001330260.2:c.1636-6632A>C

 		N/A Intron Variant
SCN8A transcript variant 4 NM_001369788.1:c.1636-663…

NM_001369788.1:c.1636-6632A>C

 		N/A Intron Variant
SCN8A transcript variant 1 NM_014191.4:c.1636-6632A>C 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= C G T
GRCh38.p14 chr 12 NC_000012.12:g.51714914= NC_000012.12:g.51714914A>C NC_000012.12:g.51714914A>G NC_000012.12:g.51714914A>T
GRCh37.p13 chr 12 NC_000012.11:g.52108698= NC_000012.11:g.52108698A>C NC_000012.11:g.52108698A>G NC_000012.11:g.52108698A>T
SCN8A RefSeqGene (LRG_1389) NG_021180.3:g.129957= NG_021180.3:g.129957A>C NG_021180.3:g.129957A>G NG_021180.3:g.129957A>T
SCN8A transcript variant 2 NM_001177984.2:c.1636-6632= NM_001177984.2:c.1636-6632A>C NM_001177984.2:c.1636-6632A>G NM_001177984.2:c.1636-6632A>T
SCN8A transcript variant 2 NM_001177984.3:c.1636-6632= NM_001177984.3:c.1636-6632A>C NM_001177984.3:c.1636-6632A>G NM_001177984.3:c.1636-6632A>T
SCN8A transcript variant 3 NM_001330260.2:c.1636-6632= NM_001330260.2:c.1636-6632A>C NM_001330260.2:c.1636-6632A>G NM_001330260.2:c.1636-6632A>T
SCN8A transcript variant 4 NM_001369788.1:c.1636-6632= NM_001369788.1:c.1636-6632A>C NM_001369788.1:c.1636-6632A>G NM_001369788.1:c.1636-6632A>T
SCN8A transcript variant 1 NM_014191.3:c.1636-6632= NM_014191.3:c.1636-6632A>C NM_014191.3:c.1636-6632A>G NM_014191.3:c.1636-6632A>T
SCN8A transcript variant 1 NM_014191.4:c.1636-6632= NM_014191.4:c.1636-6632A>C NM_014191.4:c.1636-6632A>G NM_014191.4:c.1636-6632A>T
SCN8A transcript variant X1 XM_005269075.1:c.1636-6632= XM_005269075.1:c.1636-6632A>C XM_005269075.1:c.1636-6632A>G XM_005269075.1:c.1636-6632A>T
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#.

101 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6568325 Feb 20, 2003 (111)
2 BCM_SSAHASNP ss11050192 Jul 11, 2003 (116)
3 SC_SNP ss16186668 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss16578590 Feb 27, 2004 (120)
5 SSAHASNP ss20953779 Apr 05, 2004 (121)
6 PERLEGEN ss23299874 Sep 20, 2004 (123)
7 ABI ss38883081 Mar 14, 2006 (126)
8 ILLUMINA ss67372047 Nov 30, 2006 (127)
9 ILLUMINA ss67754130 Nov 30, 2006 (127)
10 ILLUMINA ss68235688 Dec 12, 2006 (127)
11 PERLEGEN ss69108983 May 17, 2007 (127)
12 ILLUMINA ss70822657 May 25, 2008 (130)
13 ILLUMINA ss71404358 May 17, 2007 (127)
14 ILLUMINA ss74923131 Dec 07, 2007 (129)
15 AFFY ss76578896 Dec 07, 2007 (129)
16 HGSV ss83100468 Dec 15, 2007 (130)
17 KRIBB_YJKIM ss84343845 Dec 15, 2007 (130)
18 BCMHGSC_JDW ss89150698 Mar 24, 2008 (129)
19 HUMANGENOME_JCVI ss97229178 Feb 06, 2009 (130)
20 1000GENOMES ss111937115 Jan 25, 2009 (130)
21 ENSEMBL ss133165629 Dec 01, 2009 (131)
22 ENSEMBL ss137439481 Dec 01, 2009 (131)
23 ILLUMINA ss154314851 Dec 01, 2009 (131)
24 GMI ss157472484 Dec 01, 2009 (131)
25 ILLUMINA ss159491528 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss168297942 Jul 04, 2010 (132)
27 ILLUMINA ss173803458 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss175126821 Jul 04, 2010 (132)
29 BUSHMAN ss198176066 Jul 04, 2010 (132)
30 1000GENOMES ss211282921 Jul 14, 2010 (132)
31 1000GENOMES ss225752658 Jul 14, 2010 (132)
32 1000GENOMES ss235934818 Jul 15, 2010 (132)
33 1000GENOMES ss242494171 Jul 15, 2010 (132)
34 BL ss255117929 May 09, 2011 (134)
35 GMI ss281396478 May 04, 2012 (137)
36 GMI ss286561426 Apr 25, 2013 (138)
37 PJP ss291250372 May 09, 2011 (134)
38 ILLUMINA ss537270201 Sep 08, 2015 (146)
39 TISHKOFF ss563165692 Apr 25, 2013 (138)
40 SSMP ss658721289 Apr 25, 2013 (138)
41 ILLUMINA ss833002924 Jul 13, 2019 (153)
42 EVA-GONL ss989533440 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1078460673 Aug 21, 2014 (142)
44 1000GENOMES ss1345015494 Aug 21, 2014 (142)
45 DDI ss1426932979 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1576282757 Apr 01, 2015 (144)
47 EVA_DECODE ss1599204916 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1628590991 Apr 01, 2015 (144)
49 EVA_UK10K_TWINSUK ss1671585024 Apr 01, 2015 (144)
50 EVA_SVP ss1713327511 Apr 01, 2015 (144)
51 HAMMER_LAB ss1807245248 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1932897635 Feb 12, 2016 (147)
53 GENOMED ss1967589751 Jul 19, 2016 (147)
54 JJLAB ss2027199773 Sep 14, 2016 (149)
55 USC_VALOUEV ss2155537587 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2189789705 Dec 20, 2016 (150)
57 SYSTEMSBIOZJU ss2628080628 Nov 08, 2017 (151)
58 GRF ss2699881122 Nov 08, 2017 (151)
59 GNOMAD ss2910504570 Nov 08, 2017 (151)
60 AFFY ss2985616691 Nov 08, 2017 (151)
61 SWEGEN ss3009688286 Nov 08, 2017 (151)
62 BIOINF_KMB_FNS_UNIBA ss3027408355 Nov 08, 2017 (151)
63 CSHL ss3350064023 Nov 08, 2017 (151)
64 ILLUMINA ss3626876873 Oct 12, 2018 (152)
65 ILLUMINA ss3637962948 Oct 12, 2018 (152)
66 ILLUMINA ss3638995250 Oct 12, 2018 (152)
67 ILLUMINA ss3639808198 Oct 12, 2018 (152)
68 ILLUMINA ss3642956586 Oct 12, 2018 (152)
69 ILLUMINA ss3643859752 Oct 12, 2018 (152)
70 URBANLAB ss3649837813 Oct 12, 2018 (152)
71 EGCUT_WGS ss3676960941 Jul 13, 2019 (153)
72 EVA_DECODE ss3693671115 Jul 13, 2019 (153)
73 ACPOP ss3739021998 Jul 13, 2019 (153)
74 EVA ss3750479852 Jul 13, 2019 (153)
75 PACBIO ss3787226736 Jul 13, 2019 (153)
76 PACBIO ss3792328379 Jul 13, 2019 (153)
77 PACBIO ss3797211164 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3815809157 Jul 13, 2019 (153)
79 EVA ss3833122900 Apr 27, 2020 (154)
80 EVA ss3840131544 Apr 27, 2020 (154)
81 EVA ss3845617969 Apr 27, 2020 (154)
82 HGDP ss3847450693 Apr 27, 2020 (154)
83 SGDP_PRJ ss3878273594 Apr 27, 2020 (154)
84 KRGDB ss3926905897 Apr 27, 2020 (154)
85 KOGIC ss3971933394 Apr 27, 2020 (154)
86 EVA ss3985590849 Apr 26, 2021 (155)
87 EVA ss4017588718 Apr 26, 2021 (155)
88 TOPMED ss4918297142 Apr 26, 2021 (155)
89 TOMMO_GENOMICS ss5206322689 Apr 26, 2021 (155)
90 1000G_HIGH_COVERAGE ss5290809746 Oct 16, 2022 (156)
91 GENOGRAPHIC ss5314551120 Oct 16, 2022 (156)
92 EVA ss5405636494 Oct 16, 2022 (156)
93 HUGCELL_USP ss5485563197 Oct 16, 2022 (156)
94 1000G_HIGH_COVERAGE ss5588296432 Oct 16, 2022 (156)
95 SANFORD_IMAGENETICS ss5653153137 Oct 16, 2022 (156)
96 TOMMO_GENOMICS ss5756114472 Oct 16, 2022 (156)
97 YY_MCH ss5813298589 Oct 16, 2022 (156)
98 EVA ss5837966361 Oct 16, 2022 (156)
99 EVA ss5850381330 Oct 16, 2022 (156)
100 EVA ss5904392968 Oct 16, 2022 (156)
101 EVA ss5944516537 Oct 16, 2022 (156)
102 1000Genomes NC_000012.11 - 52108698 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000012.12 - 51714914 Oct 16, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 52108698 Oct 12, 2018 (152)
105 Genetic variation in the Estonian population NC_000012.11 - 52108698 Oct 12, 2018 (152)
106 Genographic Project NC_000012.12 - 51714914 Oct 16, 2022 (156)
107 The Danish reference pan genome NC_000012.11 - 52108698 Apr 27, 2020 (154)
108 gnomAD - Genomes NC_000012.12 - 51714914 Apr 26, 2021 (155)
109 Genome of the Netherlands Release 5 NC_000012.11 - 52108698 Apr 27, 2020 (154)
110 HGDP-CEPH-db Supplement 1 NC_000012.10 - 50394965 Apr 27, 2020 (154)
111 HapMap NC_000012.12 - 51714914 Apr 27, 2020 (154)
112 KOREAN population from KRGDB NC_000012.11 - 52108698 Apr 27, 2020 (154)
113 Korean Genome Project NC_000012.12 - 51714914 Apr 27, 2020 (154)
114 Northern Sweden NC_000012.11 - 52108698 Jul 13, 2019 (153)
115 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 52108698 Apr 26, 2021 (155)
116 Qatari NC_000012.11 - 52108698 Apr 27, 2020 (154)
117 SGDP_PRJ NC_000012.11 - 52108698 Apr 27, 2020 (154)
118 Siberian NC_000012.11 - 52108698 Apr 27, 2020 (154)
119 8.3KJPN NC_000012.11 - 52108698 Apr 26, 2021 (155)
120 14KJPN NC_000012.12 - 51714914 Oct 16, 2022 (156)
121 TopMed NC_000012.12 - 51714914 Apr 26, 2021 (155)
122 UK 10K study - Twins NC_000012.11 - 52108698 Oct 12, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000012.11 - 52108698 Jul 13, 2019 (153)
124 ALFA NC_000012.12 - 51714914 Apr 26, 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)
rs60225687 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
34083291, ss3926905897 NC_000012.11:52108697:A:C NC_000012.12:51714913:A:C (self)
ss83100468, ss3638995250, ss3639808198, ss3643859752 NC_000012.9:50394964:A:G NC_000012.12:51714913:A:G (self)
128585, ss76578896, ss89150698, ss111937115, ss168297942, ss175126821, ss198176066, ss211282921, ss255117929, ss281396478, ss286561426, ss291250372, ss1599204916, ss1713327511, ss3642956586, ss3847450693 NC_000012.10:50394964:A:G NC_000012.12:51714913:A:G (self)
57764573, 32075418, 22699189, 2963575, 14313471, 34083291, 12306863, 816776, 14939565, 30290574, 8053941, 64291996, 32075418, 7120608, ss225752658, ss235934818, ss242494171, ss537270201, ss563165692, ss658721289, ss833002924, ss989533440, ss1078460673, ss1345015494, ss1426932979, ss1576282757, ss1628590991, ss1671585024, ss1807245248, ss1932897635, ss1967589751, ss2027199773, ss2155537587, ss2628080628, ss2699881122, ss2910504570, ss2985616691, ss3009688286, ss3350064023, ss3626876873, ss3637962948, ss3676960941, ss3739021998, ss3750479852, ss3787226736, ss3792328379, ss3797211164, ss3833122900, ss3840131544, ss3878273594, ss3926905897, ss3985590849, ss4017588718, ss5206322689, ss5405636494, ss5653153137, ss5837966361, ss5944516537 NC_000012.11:52108697:A:G NC_000012.12:51714913:A:G (self)
75822367, 99292, 407346608, 816042, 28311395, 89951576, 133842799, 12763228388, ss2189789705, ss3027408355, ss3649837813, ss3693671115, ss3815809157, ss3845617969, ss3971933394, ss4918297142, ss5290809746, ss5314551120, ss5485563197, ss5588296432, ss5756114472, ss5813298589, ss5850381330, ss5904392968 NC_000012.12:51714913:A:G NC_000012.12:51714913:A:G (self)
ss11050192, ss16186668, ss16578590, ss20953779 NT_029419.10:14252003:A:G NC_000012.12:51714913:A:G (self)
ss6568325, ss23299874, ss38883081, ss67372047, ss67754130, ss68235688, ss69108983, ss70822657, ss71404358, ss74923131, ss84343845, ss97229178, ss133165629, ss137439481, ss154314851, ss157472484, ss159491528, ss173803458 NT_029419.12:14252003:A:G NC_000012.12:51714913:A:G (self)
34083291, ss3926905897 NC_000012.11:52108697:A:T NC_000012.12:51714913:A:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs4762004
PMID Title Author Year Journal
20632842 Genetic polymorphisms in the SCN8A gene are associated with suicidal behavior in psychiatric disorders in the Chinese population. Wang Y et al. 2010 The world journal of biological psychiatry
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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
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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