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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.

rs933399

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:111369695 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.451868 (119605/264690, TOPMED)
A=0.278641 (39523/141842, ALFA)
A=0.413698 (57873/139892, GnomAD) (+ 18 more)
G=0.07746 (2189/28258, 14KJPN)
G=0.07751 (1299/16760, 8.3KJPN)
G=0.3774 (2417/6404, 1000G_30x)
G=0.3754 (1880/5008, 1000G)
A=0.2533 (1135/4480, Estonian)
A=0.2426 (935/3854, ALSPAC)
A=0.2236 (829/3708, TWINSUK)
G=0.0546 (160/2930, KOREAN)
G=0.0551 (101/1832, Korea1K)
G=0.3333 (596/1788, HapMap)
A=0.270 (269/998, GoNL)
G=0.042 (33/790, PRJEB37584)
A=0.218 (131/600, NorthernSweden)
G=0.225 (97/432, SGDP_PRJ)
G=0.468 (101/216, Qatari)
G=0.136 (29/214, Vietnamese)
A=0.30 (12/40, GENOME_DK)
G=0.25 (8/32, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHETA1 : 2KB Upstream 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 141842 G=0.721359 A=0.278641
European Sub 121168 G=0.763791 A=0.236209
African Sub 6640 G=0.2949 A=0.7051
African Others Sub 242 G=0.165 A=0.835
African American Sub 6398 G=0.2998 A=0.7002
Asian Sub 628 G=0.073 A=0.927
East Asian Sub 496 G=0.060 A=0.940
Other Asian Sub 132 G=0.121 A=0.879
Latin American 1 Sub 748 G=0.612 A=0.388
Latin American 2 Sub 6278 G=0.4947 A=0.5053
South Asian Sub 184 G=0.402 A=0.598
Other Sub 6196 G=0.6666 A=0.3334


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=0.548132 A=0.451868
Allele Frequency Aggregator Total Global 141842 G=0.721359 A=0.278641
Allele Frequency Aggregator European Sub 121168 G=0.763791 A=0.236209
Allele Frequency Aggregator African Sub 6640 G=0.2949 A=0.7051
Allele Frequency Aggregator Latin American 2 Sub 6278 G=0.4947 A=0.5053
Allele Frequency Aggregator Other Sub 6196 G=0.6666 A=0.3334
Allele Frequency Aggregator Latin American 1 Sub 748 G=0.612 A=0.388
Allele Frequency Aggregator Asian Sub 628 G=0.073 A=0.927
Allele Frequency Aggregator South Asian Sub 184 G=0.402 A=0.598
gnomAD - Genomes Global Study-wide 139892 G=0.586302 A=0.413698
gnomAD - Genomes European Sub 75816 G=0.76666 A=0.23334
gnomAD - Genomes African Sub 41860 G=0.28927 A=0.71073
gnomAD - Genomes American Sub 13630 G=0.55172 A=0.44828
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.8530 A=0.1470
gnomAD - Genomes East Asian Sub 3122 G=0.0551 A=0.9449
gnomAD - Genomes Other Sub 2144 G=0.5882 A=0.4118
14KJPN JAPANESE Study-wide 28258 G=0.07746 A=0.92254
8.3KJPN JAPANESE Study-wide 16760 G=0.07751 A=0.92249
1000Genomes_30x Global Study-wide 6404 G=0.3774 A=0.6226
1000Genomes_30x African Sub 1786 G=0.1988 A=0.8012
1000Genomes_30x Europe Sub 1266 G=0.7520 A=0.2480
1000Genomes_30x South Asian Sub 1202 G=0.3977 A=0.6023
1000Genomes_30x East Asian Sub 1170 G=0.0915 A=0.9085
1000Genomes_30x American Sub 980 G=0.536 A=0.464
1000Genomes Global Study-wide 5008 G=0.3754 A=0.6246
1000Genomes African Sub 1322 G=0.2057 A=0.7943
1000Genomes East Asian Sub 1008 G=0.0883 A=0.9117
1000Genomes Europe Sub 1006 G=0.7545 A=0.2455
1000Genomes South Asian Sub 978 G=0.398 A=0.602
1000Genomes American Sub 694 G=0.535 A=0.465
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7467 A=0.2533
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7574 A=0.2426
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7764 A=0.2236
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0546 A=0.9454, C=0.0000, T=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.0551 A=0.9449
HapMap Global Study-wide 1788 G=0.3333 A=0.6667
HapMap African Sub 692 G=0.212 A=0.788
HapMap American Sub 666 G=0.441 A=0.559
HapMap Asian Sub 254 G=0.079 A=0.921
HapMap Europe Sub 176 G=0.767 A=0.233
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.730 A=0.270
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.042 A=0.958
CNV burdens in cranial meningiomas CRM Sub 790 G=0.042 A=0.958
Northern Sweden ACPOP Study-wide 600 G=0.782 A=0.218
SGDP_PRJ Global Study-wide 432 G=0.225 A=0.775
Qatari Global Study-wide 216 G=0.468 A=0.532
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.136 A=0.864
The Danish reference pan genome Danish Study-wide 40 G=0.70 A=0.30
Siberian Global Study-wide 32 G=0.25 A=0.75
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.111369695G>A
GRCh38.p14 chr 12 NC_000012.12:g.111369695G>C
GRCh38.p14 chr 12 NC_000012.12:g.111369695G>T
GRCh37.p13 chr 12 NC_000012.11:g.111807499G>A
GRCh37.p13 chr 12 NC_000012.11:g.111807499G>C
GRCh37.p13 chr 12 NC_000012.11:g.111807499G>T
PHETA1 RefSeqGene NG_021347.1:g.4427C>T
PHETA1 RefSeqGene NG_021347.1:g.4427C>G
PHETA1 RefSeqGene NG_021347.1:g.4427C>A
Gene: PHETA1, PH domain containing endocytic trafficking adaptor 1 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
PHETA1 transcript variant 1 NM_001177996.3:c. N/A Upstream Transcript Variant
PHETA1 transcript variant 3 NM_001177997.3:c. N/A Upstream Transcript Variant
PHETA1 transcript variant 2 NM_144671.6:c. N/A Upstream Transcript Variant
PHETA1 transcript variant X1 XM_006719257.4:c. N/A Upstream Transcript Variant
PHETA1 transcript variant X3 XM_017018883.2:c. N/A Upstream Transcript Variant
PHETA1 transcript variant X2 XM_011537976.3:c. N/A N/A
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 G= A C T
GRCh38.p14 chr 12 NC_000012.12:g.111369695= NC_000012.12:g.111369695G>A NC_000012.12:g.111369695G>C NC_000012.12:g.111369695G>T
GRCh37.p13 chr 12 NC_000012.11:g.111807499= NC_000012.11:g.111807499G>A NC_000012.11:g.111807499G>C NC_000012.11:g.111807499G>T
PHETA1 RefSeqGene NG_021347.1:g.4427= NG_021347.1:g.4427C>T NG_021347.1:g.4427C>G NG_021347.1:g.4427C>A
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#.

107 SubSNP, 21 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1372453 Oct 05, 2000 (86)
2 BCM_SSAHASNP ss11027922 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss19259078 Feb 27, 2004 (120)
4 PERLEGEN ss23318711 Sep 20, 2004 (123)
5 ABI ss40217390 Mar 14, 2006 (126)
6 ILLUMINA ss65754070 Oct 16, 2006 (127)
7 ILLUMINA ss74895992 Dec 06, 2007 (129)
8 HGSV ss80184478 Dec 14, 2007 (130)
9 BGI ss105122183 Dec 01, 2009 (131)
10 1000GENOMES ss112443835 Jan 25, 2009 (130)
11 1000GENOMES ss114107067 Jan 25, 2009 (130)
12 KRIBB_YJKIM ss119374309 Dec 01, 2009 (131)
13 ILLUMINA-UK ss119714996 Dec 01, 2009 (131)
14 GMI ss157912194 Dec 01, 2009 (131)
15 ILLUMINA ss160978391 Dec 01, 2009 (131)
16 ENSEMBL ss161481085 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168718332 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss170881451 Jul 04, 2010 (132)
19 ILLUMINA ss174816015 Jul 04, 2010 (132)
20 BUSHMAN ss198694696 Jul 04, 2010 (132)
21 1000GENOMES ss225963142 Jul 14, 2010 (132)
22 1000GENOMES ss236089909 Jul 15, 2010 (132)
23 1000GENOMES ss242616696 Jul 15, 2010 (132)
24 BL ss255347105 May 09, 2011 (134)
25 GMI ss281548736 May 04, 2012 (137)
26 GMI ss286627365 Apr 25, 2013 (138)
27 PJP ss291341049 May 09, 2011 (134)
28 ILLUMINA ss410799985 Sep 17, 2011 (135)
29 ILLUMINA ss481872055 May 04, 2012 (137)
30 ILLUMINA ss481904841 May 04, 2012 (137)
31 ILLUMINA ss482863800 Sep 08, 2015 (146)
32 ILLUMINA ss485730228 May 04, 2012 (137)
33 ILLUMINA ss537588432 Sep 08, 2015 (146)
34 TISHKOFF ss563407026 Apr 25, 2013 (138)
35 SSMP ss658989918 Apr 25, 2013 (138)
36 ILLUMINA ss778636074 Sep 08, 2015 (146)
37 ILLUMINA ss783310811 Sep 08, 2015 (146)
38 ILLUMINA ss784262932 Sep 08, 2015 (146)
39 ILLUMINA ss832572260 Sep 08, 2015 (146)
40 ILLUMINA ss834093740 Sep 08, 2015 (146)
41 EVA-GONL ss989962853 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1078773085 Aug 21, 2014 (142)
43 1000GENOMES ss1346651262 Aug 21, 2014 (142)
44 DDI ss1427055073 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1576527579 Apr 01, 2015 (144)
46 EVA_UK10K_ALSPAC ss1629453201 Apr 01, 2015 (144)
47 EVA_DECODE ss1642068462 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1672447234 Apr 01, 2015 (144)
49 EVA_SVP ss1713358353 Apr 01, 2015 (144)
50 ILLUMINA ss1752046545 Sep 08, 2015 (146)
51 HAMMER_LAB ss1807421504 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1933316340 Feb 12, 2016 (147)
53 GENOMED ss1967682819 Jul 19, 2016 (147)
54 JJLAB ss2027415580 Sep 14, 2016 (149)
55 ILLUMINA ss2094876585 Dec 20, 2016 (150)
56 ILLUMINA ss2095039290 Dec 20, 2016 (150)
57 USC_VALOUEV ss2155764512 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2193214288 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2628188979 Nov 08, 2017 (151)
60 ILLUMINA ss2633009073 Nov 08, 2017 (151)
61 GRF ss2700122175 Nov 08, 2017 (151)
62 GNOMAD ss2915212740 Nov 08, 2017 (151)
63 SWEGEN ss3010353173 Nov 08, 2017 (151)
64 BIOINF_KMB_FNS_UNIBA ss3027517831 Nov 08, 2017 (151)
65 CSHL ss3350251269 Nov 08, 2017 (151)
66 ILLUMINA ss3626969751 Oct 12, 2018 (152)
67 ILLUMINA ss3631015492 Oct 12, 2018 (152)
68 ILLUMINA ss3633034387 Oct 12, 2018 (152)
69 ILLUMINA ss3633735902 Oct 12, 2018 (152)
70 ILLUMINA ss3634523893 Oct 12, 2018 (152)
71 ILLUMINA ss3635426367 Oct 12, 2018 (152)
72 ILLUMINA ss3636209810 Oct 12, 2018 (152)
73 ILLUMINA ss3637177375 Oct 12, 2018 (152)
74 ILLUMINA ss3637987117 Oct 12, 2018 (152)
75 ILLUMINA ss3640231226 Oct 12, 2018 (152)
76 ILLUMINA ss3641035102 Oct 12, 2018 (152)
77 ILLUMINA ss3641329893 Oct 12, 2018 (152)
78 ILLUMINA ss3642978706 Oct 12, 2018 (152)
79 ILLUMINA ss3651848597 Oct 12, 2018 (152)
80 EGCUT_WGS ss3677653820 Jul 13, 2019 (153)
81 EVA_DECODE ss3694472271 Jul 13, 2019 (153)
82 ACPOP ss3739385177 Jul 13, 2019 (153)
83 ILLUMINA ss3744824708 Jul 13, 2019 (153)
84 EVA ss3750969384 Jul 13, 2019 (153)
85 ILLUMINA ss3772323911 Jul 13, 2019 (153)
86 KHV_HUMAN_GENOMES ss3816301541 Jul 13, 2019 (153)
87 EVA ss3833328114 Apr 27, 2020 (154)
88 SGDP_PRJ ss3879119320 Apr 27, 2020 (154)
89 KRGDB ss3927861388 Apr 27, 2020 (154)
90 KOGIC ss3972732955 Apr 27, 2020 (154)
91 EVA ss3984673285 Apr 26, 2021 (155)
92 EVA ss4017610846 Apr 26, 2021 (155)
93 TOPMED ss4932877179 Apr 26, 2021 (155)
94 TOMMO_GENOMICS ss5208177349 Apr 26, 2021 (155)
95 1000G_HIGH_COVERAGE ss5292244143 Oct 16, 2022 (156)
96 EVA ss5315649514 Oct 16, 2022 (156)
97 EVA ss5408246818 Oct 16, 2022 (156)
98 HUGCELL_USP ss5486846720 Oct 16, 2022 (156)
99 1000G_HIGH_COVERAGE ss5590475721 Oct 16, 2022 (156)
100 SANFORD_IMAGENETICS ss5653963264 Oct 16, 2022 (156)
101 TOMMO_GENOMICS ss5758504102 Oct 16, 2022 (156)
102 EVA ss5799884094 Oct 16, 2022 (156)
103 YY_MCH ss5813648331 Oct 16, 2022 (156)
104 EVA ss5838518537 Oct 16, 2022 (156)
105 EVA ss5850548362 Oct 16, 2022 (156)
106 EVA ss5906034777 Oct 16, 2022 (156)
107 EVA ss5945370366 Oct 16, 2022 (156)
108 1000Genomes NC_000012.11 - 111807499 Oct 12, 2018 (152)
109 1000Genomes_30x NC_000012.12 - 111369695 Oct 16, 2022 (156)
110 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 111807499 Oct 12, 2018 (152)
111 Genetic variation in the Estonian population NC_000012.11 - 111807499 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000012.11 - 111807499 Apr 27, 2020 (154)
113 gnomAD - Genomes NC_000012.12 - 111369695 Apr 26, 2021 (155)
114 Genome of the Netherlands Release 5 NC_000012.11 - 111807499 Apr 27, 2020 (154)
115 HapMap NC_000012.12 - 111369695 Apr 27, 2020 (154)
116 KOREAN population from KRGDB NC_000012.11 - 111807499 Apr 27, 2020 (154)
117 Korean Genome Project NC_000012.12 - 111369695 Apr 27, 2020 (154)
118 Northern Sweden NC_000012.11 - 111807499 Jul 13, 2019 (153)
119 CNV burdens in cranial meningiomas NC_000012.11 - 111807499 Apr 26, 2021 (155)
120 Qatari NC_000012.11 - 111807499 Apr 27, 2020 (154)
121 SGDP_PRJ NC_000012.11 - 111807499 Apr 27, 2020 (154)
122 Siberian NC_000012.11 - 111807499 Apr 27, 2020 (154)
123 8.3KJPN NC_000012.11 - 111807499 Apr 26, 2021 (155)
124 14KJPN NC_000012.12 - 111369695 Oct 16, 2022 (156)
125 TopMed NC_000012.12 - 111369695 Apr 26, 2021 (155)
126 UK 10K study - Twins NC_000012.11 - 111807499 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000012.11 - 111807499 Jul 13, 2019 (153)
128 ALFA NC_000012.12 - 111369695 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)
rs57256728 May 23, 2008 (130)
rs386621919 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80184478 NC_000012.9:110270218:G:A NC_000012.12:111369694:G:A (self)
ss112443835, ss114107067, ss119714996, ss168718332, ss170881451, ss198694696, ss255347105, ss281548736, ss286627365, ss291341049, ss481872055, ss1642068462, ss1713358353, ss2094876585, ss3642978706 NC_000012.10:110291881:G:A NC_000012.12:111369694:G:A (self)
59462485, 33024696, 23392068, 3128931, 14731367, 35038782, 12670042, 222781, 15358270, 31136300, 8280866, 66146656, 33024696, 7328056, ss225963142, ss236089909, ss242616696, ss481904841, ss482863800, ss485730228, ss537588432, ss563407026, ss658989918, ss778636074, ss783310811, ss784262932, ss832572260, ss834093740, ss989962853, ss1078773085, ss1346651262, ss1427055073, ss1576527579, ss1629453201, ss1672447234, ss1752046545, ss1807421504, ss1933316340, ss1967682819, ss2027415580, ss2095039290, ss2155764512, ss2628188979, ss2633009073, ss2700122175, ss2915212740, ss3010353173, ss3350251269, ss3626969751, ss3631015492, ss3633034387, ss3633735902, ss3634523893, ss3635426367, ss3636209810, ss3637177375, ss3637987117, ss3640231226, ss3641035102, ss3641329893, ss3651848597, ss3677653820, ss3739385177, ss3744824708, ss3750969384, ss3772323911, ss3833328114, ss3879119320, ss3927861388, ss3984673285, ss4017610846, ss5208177349, ss5315649514, ss5408246818, ss5653963264, ss5799884094, ss5838518537, ss5945370366 NC_000012.11:111807498:G:A NC_000012.12:111369694:G:A (self)
78001656, 419422538, 905336, 29110956, 92341206, 148422836, 10578186746, ss2193214288, ss3027517831, ss3694472271, ss3816301541, ss3972732955, ss4932877179, ss5292244143, ss5486846720, ss5590475721, ss5758504102, ss5813648331, ss5850548362, ss5906034777 NC_000012.12:111369694:G:A NC_000012.12:111369694:G:A (self)
ss11027922 NT_009775.13:594377:G:A NC_000012.12:111369694:G:A (self)
ss19259078 NT_009775.14:2326240:G:A NC_000012.12:111369694:G:A (self)
ss1372453, ss23318711, ss40217390, ss65754070, ss74895992, ss105122183, ss119374309, ss157912194, ss160978391, ss161481085, ss174816015, ss410799985 NT_009775.17:2384028:G:A NC_000012.12:111369694:G:A (self)
35038782, ss3927861388 NC_000012.11:111807498:G:C NC_000012.12:111369694:G:C (self)
35038782, ss3927861388 NC_000012.11:111807498:G:T NC_000012.12:111369694: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.

1 citation for rs933399
PMID Title Author Year Journal
15389760 Linkage disequilibrium mapping of bipolar affective disorder at 12q23-q24 provides evidence for association at CUX2 and FLJ32356. Glaser B et al. 2005 American journal of medical genetics. Part B, Neuropsychiatric genetics
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