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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.

rs9388489

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr6:126377573 (GRCh38.p12) 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
G=0.477910 (86819/181664, ALFA Project)
G=0.441434 (55430/125568, TOPMED)
G=0.48174 (37909/78692, PAGE_STUDY) (+ 18 more)
G=0.41291 (12939/31336, GnomAD)
A=0.4481 (2244/5008, 1000G)
G=0.4100 (1837/4480, Estonian)
G=0.4468 (1722/3854, ALSPAC)
G=0.4671 (1732/3708, TWINSUK)
A=0.0106 (31/2930, KOREAN)
A=0.3656 (762/2084, HGDP_Stanford)
A=0.0115 (21/1832, Korea1K)
G=0.4679 (846/1808, HapMap)
A=0.3239 (368/1136, Daghestan)
G=0.456 (455/998, GoNL)
G=0.470 (282/600, NorthernSweden)
A=0.181 (73/404, SGDP_PRJ)
A=0.468 (101/216, Qatari)
A=0.047 (10/214, Vietnamese)
A=0.18 (9/50, Siberian)
A=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CENPW : Intron Variant
Publications
14 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.p12 chr 6 NC_000006.12:g.126377573A>C
GRCh38.p12 chr 6 NC_000006.12:g.126377573A>G
GRCh38.p12 chr 6 NC_000006.12:g.126377573A>T
GRCh37.p13 chr 6 NC_000006.11:g.126698719A>C
GRCh37.p13 chr 6 NC_000006.11:g.126698719A>G
GRCh37.p13 chr 6 NC_000006.11:g.126698719A>T
Gene: CENPW, centromere protein W (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CENPW transcript variant 2 NM_001012507.4:c. N/A Genic Downstream Transcript Variant
CENPW transcript variant 1 NM_001286524.1:c. N/A Genic Downstream Transcript Variant
CENPW transcript variant 3 NM_001286525.1:c. N/A Genic Downstream Transcript Variant
CENPW transcript variant 4 NR_104462.2:n. N/A Intron Variant
CENPW transcript variant X1 XM_017010845.1:c. N/A Genic Downstream Transcript 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 (New)
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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 181664 A=0.522090 G=0.477910
European Sub 152638 A=0.531159 G=0.468841
African Sub 6740 A=0.7887 G=0.2113
African Others Sub 220 A=0.818 G=0.182
African American Sub 6520 A=0.7877 G=0.2123
Asian Sub 418 A=0.055 G=0.945
East Asian Sub 280 A=0.032 G=0.968
Other Asian Sub 138 A=0.101 G=0.899
Latin American 1 Sub 706 A=0.554 G=0.446
Latin American 2 Sub 7592 A=0.2869 G=0.7131
South Asian Sub 4918 A=0.3314 G=0.6686
Other Sub 8652 A=0.4891 G=0.5109


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
ALFA Total Global 181664 A=0.522090 G=0.477910
ALFA European Sub 152638 A=0.531159 G=0.468841
ALFA Other Sub 8652 A=0.4891 G=0.5109
ALFA Latin American 2 Sub 7592 A=0.2869 G=0.7131
ALFA African Sub 6740 A=0.7887 G=0.2113
ALFA South Asian Sub 4918 A=0.3314 G=0.6686
ALFA Latin American 1 Sub 706 A=0.554 G=0.446
ALFA Asian Sub 418 A=0.055 G=0.945
TopMed Global Study-wide 125568 A=0.558566 G=0.441434
The PAGE Study Global Study-wide 78692 A=0.51826 G=0.48174
The PAGE Study AfricanAmerican Sub 32506 A=0.78087 G=0.21913
The PAGE Study Mexican Sub 10810 A=0.28381 G=0.71619
The PAGE Study Asian Sub 8318 A=0.0191 G=0.9809
The PAGE Study PuertoRican Sub 7918 A=0.5150 G=0.4850
The PAGE Study NativeHawaiian Sub 4534 A=0.2673 G=0.7327
The PAGE Study Cuban Sub 4230 A=0.5139 G=0.4861
The PAGE Study Dominican Sub 3828 A=0.6001 G=0.3999
The PAGE Study CentralAmerican Sub 2450 A=0.3343 G=0.6657
The PAGE Study SouthAmerican Sub 1982 A=0.3466 G=0.6534
The PAGE Study NativeAmerican Sub 1260 A=0.4913 G=0.5087
The PAGE Study SouthAsian Sub 856 A=0.335 G=0.665
gnomAD - Genomes Global Study-wide 31336 A=0.58709 G=0.41291
gnomAD - Genomes European Sub 18864 A=0.55137 G=0.44863
gnomAD - Genomes African Sub 8702 A=0.8004 G=0.1996
gnomAD - Genomes East Asian Sub 1556 A=0.0270 G=0.9730
gnomAD - Genomes Other Sub 1084 A=0.5341 G=0.4659
gnomAD - Genomes American Sub 842 A=0.303 G=0.697
gnomAD - Genomes Ashkenazi Jewish Sub 288 A=0.538 G=0.462
1000Genomes Global Study-wide 5008 A=0.4481 G=0.5519
1000Genomes African Sub 1322 A=0.8290 G=0.1710
1000Genomes East Asian Sub 1008 A=0.0268 G=0.9732
1000Genomes Europe Sub 1006 A=0.5497 G=0.4503
1000Genomes South Asian Sub 978 A=0.347 G=0.653
1000Genomes American Sub 694 A=0.330 G=0.670
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.5900 G=0.4100
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.5532 G=0.4468
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.5329 G=0.4671
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0106 C=0.0000, G=0.9894, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.3656 G=0.6344
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.060 G=0.940
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.355 G=0.645
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.371 G=0.629
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.509 G=0.491
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.876 G=0.124
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.060 G=0.940
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.96 G=0.04
Korean Genome Project KOREAN Study-wide 1832 A=0.0115 G=0.9885
HapMap Global Study-wide 1808 A=0.5321 G=0.4679
HapMap American Sub 770 A=0.391 G=0.609
HapMap African Sub 692 A=0.842 G=0.158
HapMap Europe Sub 176 A=0.438 G=0.562
HapMap Asian Sub 170 A=0.006 G=0.994
Genome-wide autozygosity in Daghestan Global Study-wide 1136 A=0.3239 G=0.6761
Genome-wide autozygosity in Daghestan Daghestan Sub 628 A=0.309 G=0.691
Genome-wide autozygosity in Daghestan Near_East Sub 144 A=0.389 G=0.611
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.230 G=0.770
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.454 G=0.546
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.31 G=0.69
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.31 G=0.69
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.544 G=0.456
Northern Sweden ACPOP Study-wide 600 A=0.530 G=0.470
SGDP_PRJ Global Study-wide 404 A=0.181 G=0.819
Qatari Global Study-wide 216 A=0.468 G=0.532
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.047 G=0.953
Siberian Global Study-wide 50 A=0.18 G=0.82
The Danish reference pan genome Danish Study-wide 40 A=0.50 G=0.50
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.p12 chr 6 NC_000006.12:g.126377573= NC_000006.12:g.126377573A>C NC_000006.12:g.126377573A>G NC_000006.12:g.126377573A>T
GRCh37.p13 chr 6 NC_000006.11:g.126698719= NC_000006.11:g.126698719A>C NC_000006.11:g.126698719A>G NC_000006.11:g.126698719A>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#.

133 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12883016 Dec 05, 2003 (119)
2 SC_SNP ss15742776 Feb 27, 2004 (120)
3 PERLEGEN ss24482167 Sep 20, 2004 (123)
4 AFFY ss66258921 Nov 29, 2006 (127)
5 ILLUMINA ss66790603 Nov 29, 2006 (127)
6 ILLUMINA ss67913349 Nov 29, 2006 (127)
7 ILLUMINA ss68040277 Nov 29, 2006 (127)
8 ILLUMINA ss71604946 May 16, 2007 (127)
9 ILLUMINA ss75788941 Dec 06, 2007 (129)
10 AFFY ss76404058 Dec 08, 2007 (130)
11 ILLUMINA ss79295258 Dec 14, 2007 (130)
12 KRIBB_YJKIM ss84814438 Dec 14, 2007 (130)
13 BCMHGSC_JDW ss93556438 Mar 24, 2008 (129)
14 ILLUMINA ss98254877 May 23, 2008 (130)
15 HUMANGENOME_JCVI ss98539362 Feb 04, 2009 (130)
16 BGI ss106036495 Feb 04, 2009 (130)
17 1000GENOMES ss110884783 Jan 25, 2009 (130)
18 ILLUMINA ss122985194 Dec 01, 2009 (131)
19 ENSEMBL ss139681089 Dec 01, 2009 (131)
20 ENSEMBL ss144294857 Dec 01, 2009 (131)
21 ILLUMINA ss154491602 Dec 01, 2009 (131)
22 GMI ss157568450 Dec 01, 2009 (131)
23 ILLUMINA ss159665622 Dec 01, 2009 (131)
24 ILLUMINA ss160983558 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss162799203 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss167249939 Jul 04, 2010 (132)
27 ILLUMINA ss172459033 Jul 04, 2010 (132)
28 AFFY ss173486776 Jul 04, 2010 (132)
29 ILLUMINA ss174832941 Jul 04, 2010 (132)
30 1000GENOMES ss211921529 Jul 14, 2010 (132)
31 1000GENOMES ss222663752 Jul 14, 2010 (132)
32 1000GENOMES ss233676215 Jul 15, 2010 (132)
33 1000GENOMES ss240693102 Jul 15, 2010 (132)
34 BL ss254700713 May 09, 2011 (134)
35 GMI ss279016021 May 04, 2012 (137)
36 PJP ss293720477 May 09, 2011 (134)
37 ILLUMINA ss481888005 May 04, 2012 (137)
38 ILLUMINA ss481921038 May 04, 2012 (137)
39 ILLUMINA ss482879195 Sep 08, 2015 (146)
40 ILLUMINA ss485738166 May 04, 2012 (137)
41 EXOME_CHIP ss491391294 May 04, 2012 (137)
42 ILLUMINA ss537594247 Sep 08, 2015 (146)
43 TISHKOFF ss559511099 Apr 25, 2013 (138)
44 SSMP ss653733269 Apr 25, 2013 (138)
45 ILLUMINA ss779051884 Sep 08, 2015 (146)
46 ILLUMINA ss780687428 Sep 08, 2015 (146)
47 ILLUMINA ss783314820 Sep 08, 2015 (146)
48 ILLUMINA ss783360981 Sep 08, 2015 (146)
49 ILLUMINA ss784266862 Sep 08, 2015 (146)
50 ILLUMINA ss825625776 Apr 01, 2015 (144)
51 ILLUMINA ss832576322 Sep 08, 2015 (146)
52 ILLUMINA ss833176375 Jul 13, 2019 (153)
53 ILLUMINA ss834514855 Sep 08, 2015 (146)
54 EVA-GONL ss983479746 Aug 21, 2014 (142)
55 JMKIDD_LAB ss1074018862 Aug 21, 2014 (142)
56 1000GENOMES ss1322192818 Aug 21, 2014 (142)
57 HAMMER_LAB ss1397470157 Sep 08, 2015 (146)
58 DDI ss1430890260 Apr 01, 2015 (144)
59 EVA_GENOME_DK ss1581890766 Apr 01, 2015 (144)
60 EVA_DECODE ss1593046811 Apr 01, 2015 (144)
61 EVA_UK10K_ALSPAC ss1616652398 Apr 01, 2015 (144)
62 EVA_UK10K_TWINSUK ss1659646431 Apr 01, 2015 (144)
63 EVA_SVP ss1712898514 Apr 01, 2015 (144)
64 ILLUMINA ss1752600264 Sep 08, 2015 (146)
65 ILLUMINA ss1752600265 Sep 08, 2015 (146)
66 HAMMER_LAB ss1804662548 Sep 08, 2015 (146)
67 ILLUMINA ss1917810373 Feb 12, 2016 (147)
68 WEILL_CORNELL_DGM ss1926724173 Feb 12, 2016 (147)
69 ILLUMINA ss1946190638 Feb 12, 2016 (147)
70 ILLUMINA ss1958948640 Feb 12, 2016 (147)
71 AMU ss1966656160 Feb 12, 2016 (147)
72 GENOMED ss1970522094 Jul 19, 2016 (147)
73 JJLAB ss2024018181 Sep 14, 2016 (149)
74 ILLUMINA ss2094961900 Dec 20, 2016 (150)
75 ILLUMINA ss2095188356 Dec 20, 2016 (150)
76 USC_VALOUEV ss2152212425 Dec 20, 2016 (150)
77 HUMAN_LONGEVITY ss2288216224 Dec 20, 2016 (150)
78 TOPMED ss2456880676 Dec 20, 2016 (150)
79 SYSTEMSBIOZJU ss2626504284 Nov 08, 2017 (151)
80 ILLUMINA ss2634508690 Nov 08, 2017 (151)
81 GRF ss2707843521 Nov 08, 2017 (151)
82 GNOMAD ss2844894084 Nov 08, 2017 (151)
83 AFFY ss2985384009 Nov 08, 2017 (151)
84 AFFY ss2986012242 Nov 08, 2017 (151)
85 SWEGEN ss2999921906 Nov 08, 2017 (151)
86 ILLUMINA ss3022664045 Nov 08, 2017 (151)
87 BIOINF_KMB_FNS_UNIBA ss3025803398 Nov 08, 2017 (151)
88 CSHL ss3347221234 Nov 08, 2017 (151)
89 TOPMED ss3511364889 Nov 08, 2017 (151)
90 TOPMED ss3511364890 Nov 08, 2017 (151)
91 ILLUMINA ss3629650824 Oct 12, 2018 (152)
92 ILLUMINA ss3629650825 Oct 12, 2018 (152)
93 ILLUMINA ss3632422052 Oct 12, 2018 (152)
94 ILLUMINA ss3633436872 Oct 12, 2018 (152)
95 ILLUMINA ss3634160422 Oct 12, 2018 (152)
96 ILLUMINA ss3635087227 Oct 12, 2018 (152)
97 ILLUMINA ss3635087228 Oct 12, 2018 (152)
98 ILLUMINA ss3635840890 Oct 12, 2018 (152)
99 ILLUMINA ss3636812420 Oct 12, 2018 (152)
100 ILLUMINA ss3637593752 Oct 12, 2018 (152)
101 ILLUMINA ss3638655940 Oct 12, 2018 (152)
102 ILLUMINA ss3639329008 Oct 12, 2018 (152)
103 ILLUMINA ss3639691406 Oct 12, 2018 (152)
104 ILLUMINA ss3640794527 Oct 12, 2018 (152)
105 ILLUMINA ss3640794528 Oct 12, 2018 (152)
106 ILLUMINA ss3643595158 Oct 12, 2018 (152)
107 ILLUMINA ss3644923753 Oct 12, 2018 (152)
108 URBANLAB ss3648468292 Oct 12, 2018 (152)
109 ILLUMINA ss3653185056 Oct 12, 2018 (152)
110 ILLUMINA ss3653185057 Oct 12, 2018 (152)
111 ILLUMINA ss3654146914 Oct 12, 2018 (152)
112 EGCUT_WGS ss3667833510 Jul 13, 2019 (153)
113 EVA_DECODE ss3718239140 Jul 13, 2019 (153)
114 ILLUMINA ss3726382126 Jul 13, 2019 (153)
115 ACPOP ss3733967065 Jul 13, 2019 (153)
116 ILLUMINA ss3744560468 Jul 13, 2019 (153)
117 ILLUMINA ss3745387161 Jul 13, 2019 (153)
118 ILLUMINA ss3745387162 Jul 13, 2019 (153)
119 EVA ss3765647485 Jul 13, 2019 (153)
120 PAGE_CC ss3771321257 Jul 13, 2019 (153)
121 ILLUMINA ss3772880558 Jul 13, 2019 (153)
122 ILLUMINA ss3772880559 Jul 13, 2019 (153)
123 PACBIO ss3785616144 Jul 13, 2019 (153)
124 PACBIO ss3790945111 Jul 13, 2019 (153)
125 PACBIO ss3795824376 Jul 13, 2019 (153)
126 KHV_HUMAN_GENOMES ss3808804531 Jul 13, 2019 (153)
127 EVA ss3830184172 Apr 26, 2020 (154)
128 EVA ss3838578638 Apr 26, 2020 (154)
129 EVA ss3844028573 Apr 26, 2020 (154)
130 HGDP ss3847850049 Apr 26, 2020 (154)
131 SGDP_PRJ ss3865666872 Apr 26, 2020 (154)
132 KRGDB ss3912618386 Apr 26, 2020 (154)
133 KOGIC ss3960046047 Apr 26, 2020 (154)
134 1000Genomes NC_000006.11 - 126698719 Oct 12, 2018 (152)
135 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 126698719 Oct 12, 2018 (152)
136 Genome-wide autozygosity in Daghestan NC_000006.10 - 126740412 Apr 26, 2020 (154)
137 Genetic variation in the Estonian population NC_000006.11 - 126698719 Oct 12, 2018 (152)
138 The Danish reference pan genome NC_000006.11 - 126698719 Apr 26, 2020 (154)
139 gnomAD - Genomes NC_000006.11 - 126698719 Jul 13, 2019 (153)
140 Genome of the Netherlands Release 5 NC_000006.11 - 126698719 Apr 26, 2020 (154)
141 HGDP-CEPH-db Supplement 1 NC_000006.10 - 126740412 Apr 26, 2020 (154)
142 HapMap NC_000006.12 - 126377573 Apr 26, 2020 (154)
143 KOREAN population from KRGDB NC_000006.11 - 126698719 Apr 26, 2020 (154)
144 Korean Genome Project NC_000006.12 - 126377573 Apr 26, 2020 (154)
145 Northern Sweden NC_000006.11 - 126698719 Jul 13, 2019 (153)
146 The PAGE Study NC_000006.12 - 126377573 Jul 13, 2019 (153)
147 Qatari NC_000006.11 - 126698719 Apr 26, 2020 (154)
148 SGDP_PRJ NC_000006.11 - 126698719 Apr 26, 2020 (154)
149 Siberian NC_000006.11 - 126698719 Apr 26, 2020 (154)
150 TopMed NC_000006.12 - 126377573 Oct 12, 2018 (152)
151 UK 10K study - Twins NC_000006.11 - 126698719 Oct 12, 2018 (152)
152 A Vietnamese Genetic Variation Database NC_000006.11 - 126698719 Jul 13, 2019 (153)
153 dbGaP Population Frequency Project NC_000006.12 - 126377573 Apr 26, 2020 (154)
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)
rs17703365 Oct 08, 2004 (123)
rs56619536 May 23, 2008 (130)
rs57517699 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
19795780, ss3912618386 NC_000006.11:126698718:A:C NC_000006.12:126377572:A:C
ss3639329008, ss3639691406 NC_000006.9:126740411:A:G NC_000006.12:126377572:A:G (self)
444584, 527941, ss93556438, ss110884783, ss162799203, ss167249939, ss211921529, ss254700713, ss279016021, ss293720477, ss481888005, ss825625776, ss1397470157, ss1593046811, ss1712898514, ss2094961900, ss3643595158, ss3847850049 NC_000006.10:126740411:A:G NC_000006.12:126377572:A:G (self)
34058957, 18979782, 13571758, 8055705, 93102984, 8454887, 19795780, 7251930, 8766103, 17683852, 4728779, 18979782, 4226462, ss222663752, ss233676215, ss240693102, ss481921038, ss482879195, ss485738166, ss491391294, ss537594247, ss559511099, ss653733269, ss779051884, ss780687428, ss783314820, ss783360981, ss784266862, ss832576322, ss833176375, ss834514855, ss983479746, ss1074018862, ss1322192818, ss1430890260, ss1581890766, ss1616652398, ss1659646431, ss1752600264, ss1752600265, ss1804662548, ss1917810373, ss1926724173, ss1946190638, ss1958948640, ss1966656160, ss1970522094, ss2024018181, ss2095188356, ss2152212425, ss2456880676, ss2626504284, ss2634508690, ss2707843521, ss2844894084, ss2985384009, ss2986012242, ss2999921906, ss3022664045, ss3347221234, ss3629650824, ss3629650825, ss3632422052, ss3633436872, ss3634160422, ss3635087227, ss3635087228, ss3635840890, ss3636812420, ss3637593752, ss3638655940, ss3640794527, ss3640794528, ss3644923753, ss3653185056, ss3653185057, ss3654146914, ss3667833510, ss3733967065, ss3744560468, ss3745387161, ss3745387162, ss3765647485, ss3772880558, ss3772880559, ss3785616144, ss3790945111, ss3795824376, ss3830184172, ss3838578638, ss3865666872, ss3912618386 NC_000006.11:126698718:A:G NC_000006.12:126377572:A:G (self)
3243899, 16424048, 542726, 349356852, 656817292, ss2288216224, ss3025803398, ss3511364889, ss3648468292, ss3718239140, ss3726382126, ss3771321257, ss3808804531, ss3844028573, ss3960046047 NC_000006.12:126377572:A:G NC_000006.12:126377572:A:G (self)
ss12883016 NT_025741.12:30803147:A:G NC_000006.12:126377572:A:G (self)
ss15742776 NT_025741.13:30803147:A:G NC_000006.12:126377572:A:G (self)
ss24482167, ss66258921, ss66790603, ss67913349, ss68040277, ss71604946, ss75788941, ss76404058, ss79295258, ss84814438, ss98254877, ss98539362, ss106036495, ss122985194, ss139681089, ss144294857, ss154491602, ss157568450, ss159665622, ss160983558, ss172459033, ss173486776, ss174832941 NT_025741.15:30868175:A:G NC_000006.12:126377572:A:G (self)
19795780, ss3912618386 NC_000006.11:126698718:A:T NC_000006.12:126377572:A:T
ss3511364890 NC_000006.12:126377572:A:T NC_000006.12:126377572: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.

14 citations for rs9388489
PMID Title Author Year Journal
19430480 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Barrett JC et al. 2009 Nature genetics
20176734 Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Wang K et al. 2010 Human molecular genetics
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20885991 Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies. Carey C et al. 2010 Expert opinion on medical diagnostics
21270831 Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Reddy MV et al. 2011 Genes and immunity
21507254 Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease. Ding K et al. 2011 BMC medical genetics
21682861 Balancing selection is common in the extended MHC region but most alleles with opposite risk profile for autoimmune diseases are neutrally evolving. Cagliani R et al. 2011 BMC evolutionary biology
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP et al. 2011 PLoS genetics
22278338 Confirmation of novel type 1 diabetes risk loci in families. Cooper JD et al. 2012 Diabetologia
24367383 Evidence of stage- and age-related heterogeneity of non-HLA SNPs and risk of islet autoimmunity and type 1 diabetes: the diabetes autoimmunity study in the young. Frederiksen BN et al. 2013 Clinical & developmental immunology
25904084 Genetic link of type 1 diabetes susceptibility loci with rheumatoid arthritis in Pakistani patients. Kiani AK et al. 2015 Immunogenetics
26904692 Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control. Brorsson CA et al. 2016 Journal of diabetes research
31455420 Exploration of shared genetic susceptibility loci between type 1 diabetes and rheumatoid arthritis in the Pakistani population. Aslam MM et al. 2019 BMC research notes
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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
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.post536+f5d31d6