Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs3024505

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr1:206766559 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.146644 (21291/145188, ALFA Project)
A=0.105401 (13235/125568, TOPMED)
A=0.06291 (4950/78688, PAGE_STUDY) (+ 16 more)
A=0.11401 (3577/31374, GnomAD)
A=0.0863 (432/5008, 1000G)
A=0.1379 (618/4480, Estonian)
A=0.1648 (635/3854, ALSPAC)
A=0.1564 (580/3708, TWINSUK)
A=0.0219 (64/2922, KOREAN)
A=0.0735 (153/2082, HGDP_Stanford)
A=0.0766 (142/1854, HapMap)
A=0.1277 (144/1128, Daghestan)
A=0.157 (157/998, GoNL)
A=0.122 (73/600, NorthernSweden)
A=0.157 (34/216, Qatari)
A=0.047 (10/212, Vietnamese)
A=0.25 (10/40, GENOME_DK)
G=0.47 (17/36, SGDP_PRJ)
G=0.2 (1/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
73 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 1 NC_000001.11:g.206766559G>A
GRCh37.p13 chr 1 NC_000001.10:g.206939904G>A
IL10 RefSeqGene (LRG_1230) NG_012088.1:g.10936C>T
GRCh37.p13 chr 1 fix patch HG1293_PATCH NW_003871057.1:g.757413G>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

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 145188 G=0.853356 A=0.146644
European Sub 123038 G=0.843073 A=0.156927
African Sub 4974 G=0.9562 A=0.0438
African Others Sub 144 G=0.979 A=0.021
African American Sub 4830 G=0.9555 A=0.0445
Asian Sub 132 G=0.977 A=0.023
East Asian Sub 88 G=0.97 A=0.03
Other Asian Sub 44 G=1.00 A=0.00
Latin American 1 Sub 232 G=0.914 A=0.086
Latin American 2 Sub 6318 G=0.9365 A=0.0635
South Asian Sub 4852 G=0.8780 A=0.1220
Other Sub 5642 G=0.8672 A=0.1328


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 145188 G=0.853356 A=0.146644
ALFA European Sub 123038 G=0.843073 A=0.156927
ALFA Latin American 2 Sub 6318 G=0.9365 A=0.0635
ALFA Other Sub 5642 G=0.8672 A=0.1328
ALFA African Sub 4974 G=0.9562 A=0.0438
ALFA South Asian Sub 4852 G=0.8780 A=0.1220
ALFA Latin American 1 Sub 232 G=0.914 A=0.086
ALFA Asian Sub 132 G=0.977 A=0.023
TopMed Global Study-wide 125568 G=0.894599 A=0.105401
The PAGE Study Global Study-wide 78688 G=0.93709 A=0.06291
The PAGE Study AfricanAmerican Sub 32508 G=0.95087 A=0.04913
The PAGE Study Mexican Sub 10810 G=0.93145 A=0.06855
The PAGE Study Asian Sub 8318 G=0.9855 A=0.0145
The PAGE Study PuertoRican Sub 7916 G=0.9140 A=0.0860
The PAGE Study NativeHawaiian Sub 4534 G=0.8966 A=0.1034
The PAGE Study Cuban Sub 4228 G=0.8893 A=0.1107
The PAGE Study Dominican Sub 3828 G=0.9028 A=0.0972
The PAGE Study CentralAmerican Sub 2450 G=0.9408 A=0.0592
The PAGE Study SouthAmerican Sub 1982 G=0.9273 A=0.0727
The PAGE Study NativeAmerican Sub 1260 G=0.8921 A=0.1079
The PAGE Study SouthAsian Sub 854 G=0.911 A=0.089
gnomAD - Genomes Global Study-wide 31374 G=0.88599 A=0.11401
gnomAD - Genomes European Sub 18880 G=0.84783 A=0.15217
gnomAD - Genomes African Sub 8710 G=0.9540 A=0.0460
gnomAD - Genomes East Asian Sub 1560 G=0.9750 A=0.0250
gnomAD - Genomes Other Sub 1088 G=0.8557 A=0.1443
gnomAD - Genomes American Sub 848 G=0.919 A=0.081
gnomAD - Genomes Ashkenazi Jewish Sub 288 G=0.868 A=0.132
1000Genomes Global Study-wide 5008 G=0.9137 A=0.0863
1000Genomes African Sub 1322 G=0.9682 A=0.0318
1000Genomes East Asian Sub 1008 G=0.9722 A=0.0278
1000Genomes Europe Sub 1006 G=0.8320 A=0.1680
1000Genomes South Asian Sub 978 G=0.861 A=0.139
1000Genomes American Sub 694 G=0.918 A=0.082
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8621 A=0.1379
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8352 A=0.1648
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8436 A=0.1564
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9781 A=0.0219
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.9265 A=0.0735
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.970 A=0.030
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.915 A=0.085
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.846 A=0.154
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.871 A=0.129
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.967 A=0.033
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.995 A=0.005
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1854 G=0.9234 A=0.0766
HapMap American Sub 762 G=0.887 A=0.113
HapMap African Sub 668 G=0.969 A=0.031
HapMap Asian Sub 252 G=0.992 A=0.008
HapMap Europe Sub 172 G=0.808 A=0.192
Genome-wide autozygosity in Daghestan Global Study-wide 1128 G=0.8723 A=0.1277
Genome-wide autozygosity in Daghestan Daghestan Sub 624 G=0.862 A=0.138
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.868 A=0.132
Genome-wide autozygosity in Daghestan Central Asia Sub 120 G=0.900 A=0.100
Genome-wide autozygosity in Daghestan Europe Sub 106 G=0.887 A=0.113
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.91 A=0.09
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.83 A=0.17
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.843 A=0.157
Northern Sweden ACPOP Study-wide 600 G=0.878 A=0.122
Qatari Global Study-wide 216 G=0.843 A=0.157
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.953 A=0.047
The Danish reference pan genome Danish Study-wide 40 G=0.75 A=0.25
SGDP_PRJ Global Study-wide 36 G=0.47 A=0.53
Siberian Global Study-wide 4 G=0.2 A=0.8
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
GRCh38.p12 chr 1 NC_000001.11:g.206766559= NC_000001.11:g.206766559G>A
GRCh37.p13 chr 1 NC_000001.10:g.206939904= NC_000001.10:g.206939904G>A
IL10 RefSeqGene (LRG_1230) NG_012088.1:g.10936= NG_012088.1:g.10936C>T
GRCh37.p13 chr 1 fix patch HG1293_PATCH NW_003871057.1:g.757413= NW_003871057.1:g.757413G>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#.

118 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss4250398 Jan 05, 2002 (102)
2 IIPGA-WEISS-MARTINEZ ss7987594 Apr 21, 2003 (114)
3 PGA-UW-FHCRC ss52087170 Oct 16, 2006 (127)
4 AFFY ss66072349 Dec 02, 2006 (127)
5 ILLUMINA ss66584331 Dec 02, 2006 (127)
6 ILLUMINA ss67288635 Dec 02, 2006 (127)
7 ILLUMINA ss67691865 Dec 02, 2006 (127)
8 ILLUMINA ss70767207 May 24, 2008 (130)
9 ILLUMINA ss71341981 May 18, 2007 (127)
10 ILLUMINA ss74914623 Dec 07, 2007 (129)
11 AFFY ss76003700 Dec 07, 2007 (129)
12 ILLUMINA ss79157294 Dec 15, 2007 (130)
13 KRIBB_YJKIM ss84143961 Dec 15, 2007 (130)
14 1000GENOMES ss108894202 Jan 23, 2009 (130)
15 ILLUMINA ss122163994 Dec 01, 2009 (131)
16 ILLUMINA ss154252137 Dec 01, 2009 (131)
17 ILLUMINA ss159429080 Dec 01, 2009 (131)
18 ILLUMINA ss160607512 Dec 01, 2009 (131)
19 AFFY ss170277447 Jul 04, 2010 (132)
20 ILLUMINA ss171525306 Jul 04, 2010 (132)
21 ILLUMINA ss173554345 Jul 04, 2010 (132)
22 1000GENOMES ss218845112 Jul 14, 2010 (132)
23 1000GENOMES ss230873398 Jul 14, 2010 (132)
24 1000GENOMES ss238491417 Jul 15, 2010 (132)
25 BL ss253777542 May 09, 2011 (134)
26 GMI ss276190027 May 04, 2012 (137)
27 GMI ss284215973 Apr 25, 2013 (138)
28 ILLUMINA ss410927934 Sep 17, 2011 (135)
29 ILLUMINA ss480743584 May 04, 2012 (137)
30 ILLUMINA ss480759416 May 04, 2012 (137)
31 ILLUMINA ss481644500 Sep 11, 2015 (146)
32 ILLUMINA ss485166541 May 04, 2012 (137)
33 EXOME_CHIP ss491309617 May 04, 2012 (137)
34 ILLUMINA ss537158291 Sep 11, 2015 (146)
35 SSMP ss648651773 Apr 25, 2013 (138)
36 ILLUMINA ss778514899 Sep 11, 2015 (146)
37 ILLUMINA ss780684149 Sep 11, 2015 (146)
38 ILLUMINA ss783029497 Sep 11, 2015 (146)
39 ILLUMINA ss783357580 Sep 11, 2015 (146)
40 ILLUMINA ss783989239 Sep 11, 2015 (146)
41 ILLUMINA ss825487812 Apr 01, 2015 (144)
42 ILLUMINA ss832287106 Sep 11, 2015 (146)
43 ILLUMINA ss832940691 Jul 12, 2019 (153)
44 ILLUMINA ss833971206 Sep 11, 2015 (146)
45 EVA-GONL ss976069308 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1068546048 Aug 21, 2014 (142)
47 1000GENOMES ss1294370292 Aug 21, 2014 (142)
48 HAMMER_LAB ss1397270039 Sep 08, 2015 (146)
49 DDI ss1426090596 Apr 09, 2015 (144)
50 EVA_GENOME_DK ss1574629470 Apr 09, 2015 (144)
51 EVA_DECODE ss1585464325 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1601987430 Apr 09, 2015 (144)
53 EVA_UK10K_TWINSUK ss1644981463 Apr 09, 2015 (144)
54 EVA_SVP ss1712399219 Apr 01, 2015 (144)
55 ILLUMINA ss1751894396 Sep 11, 2015 (146)
56 ILLUMINA ss1751894397 Sep 11, 2015 (146)
57 ILLUMINA ss1917741436 Feb 17, 2016 (147)
58 WEILL_CORNELL_DGM ss1919296207 Feb 17, 2016 (147)
59 ILLUMINA ss1946021279 Feb 17, 2016 (147)
60 ILLUMINA ss1958351106 Feb 17, 2016 (147)
61 AMU ss1966653844 Feb 17, 2016 (147)
62 GENOMED ss1966955195 Sep 28, 2016 (149)
63 JJLAB ss2020168963 Sep 28, 2016 (149)
64 ILLUMINA ss2094856674 Dec 20, 2016 (150)
65 ILLUMINA ss2094996547 Oct 11, 2018 (152)
66 ILLUMINA ss2094996549 Oct 11, 2018 (152)
67 USC_VALOUEV ss2148198567 Oct 11, 2018 (152)
68 HUMAN_LONGEVITY ss2169516168 Dec 20, 2016 (150)
69 TOPMED ss2332117276 Oct 11, 2018 (152)
70 ILLUMINA ss2632620300 Oct 11, 2018 (152)
71 ILLUMINA ss2632620301 Oct 11, 2018 (152)
72 ILLUMINA ss2635006395 Nov 08, 2017 (151)
73 GRF ss2698189876 Oct 11, 2018 (152)
74 GNOMAD ss2765434463 Oct 11, 2018 (152)
75 AFFY ss2984892148 Oct 11, 2018 (152)
76 AFFY ss2985536561 Oct 11, 2018 (152)
77 SWEGEN ss2988336425 Oct 11, 2018 (152)
78 ILLUMINA ss3021173191 Oct 11, 2018 (152)
79 BIOINF_KMB_FNS_UNIBA ss3023844418 Nov 08, 2017 (151)
80 TOPMED ss3101610265 Nov 08, 2017 (151)
81 CSHL ss3343879294 Oct 11, 2018 (152)
82 ILLUMINA ss3626291845 Oct 11, 2018 (152)
83 ILLUMINA ss3626291846 Oct 11, 2018 (152)
84 ILLUMINA ss3630650590 Oct 11, 2018 (152)
85 ILLUMINA ss3632922853 Oct 11, 2018 (152)
86 ILLUMINA ss3633618788 Oct 11, 2018 (152)
87 ILLUMINA ss3634369308 Oct 11, 2018 (152)
88 ILLUMINA ss3634369309 Oct 11, 2018 (152)
89 ILLUMINA ss3635311947 Oct 11, 2018 (152)
90 ILLUMINA ss3636048175 Oct 11, 2018 (152)
91 ILLUMINA ss3637062478 Oct 11, 2018 (152)
92 ILLUMINA ss3637809629 Oct 11, 2018 (152)
93 ILLUMINA ss3638920270 Oct 11, 2018 (152)
94 ILLUMINA ss3639458839 Oct 11, 2018 (152)
95 ILLUMINA ss3640076662 Oct 11, 2018 (152)
96 ILLUMINA ss3640076663 Oct 11, 2018 (152)
97 ILLUMINA ss3642816485 Oct 11, 2018 (152)
98 ILLUMINA ss3644517282 Oct 11, 2018 (152)
99 ILLUMINA ss3651516557 Oct 11, 2018 (152)
100 ILLUMINA ss3651516558 Oct 11, 2018 (152)
101 ILLUMINA ss3651516559 Oct 11, 2018 (152)
102 ILLUMINA ss3653661833 Oct 11, 2018 (152)
103 EGCUT_WGS ss3656294197 Jul 12, 2019 (153)
104 EVA_DECODE ss3688492841 Jul 12, 2019 (153)
105 ILLUMINA ss3725099227 Jul 12, 2019 (153)
106 ACPOP ss3727800666 Jul 12, 2019 (153)
107 ILLUMINA ss3744359119 Jul 12, 2019 (153)
108 ILLUMINA ss3744670140 Jul 12, 2019 (153)
109 ILLUMINA ss3744670141 Jul 12, 2019 (153)
110 EVA ss3747247901 Jul 12, 2019 (153)
111 PAGE_CC ss3770867097 Jul 12, 2019 (153)
112 ILLUMINA ss3772171095 Jul 12, 2019 (153)
113 ILLUMINA ss3772171096 Jul 12, 2019 (153)
114 KHV_HUMAN_GENOMES ss3800254894 Jul 12, 2019 (153)
115 EVA ss3826607855 Apr 25, 2020 (154)
116 HGDP ss3847361014 Apr 25, 2020 (154)
117 SGDP_PRJ ss3850754815 Apr 25, 2020 (154)
118 KRGDB ss3896054297 Apr 25, 2020 (154)
119 1000Genomes NC_000001.10 - 206939904 Oct 11, 2018 (152)
120 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 206939904 Oct 11, 2018 (152)
121 Genome-wide autozygosity in Daghestan NC_000001.9 - 205006527 Apr 25, 2020 (154)
122 Genetic variation in the Estonian population NC_000001.10 - 206939904 Oct 11, 2018 (152)
123 The Danish reference pan genome NC_000001.10 - 206939904 Apr 25, 2020 (154)
124 gnomAD - Genomes NC_000001.10 - 206939904 Jul 12, 2019 (153)
125 Genome of the Netherlands Release 5 NC_000001.10 - 206939904 Apr 25, 2020 (154)
126 HGDP-CEPH-db Supplement 1 NC_000001.9 - 205006527 Apr 25, 2020 (154)
127 HapMap NC_000001.11 - 206766559 Apr 25, 2020 (154)
128 KOREAN population from KRGDB NC_000001.10 - 206939904 Apr 25, 2020 (154)
129 Northern Sweden NC_000001.10 - 206939904 Jul 12, 2019 (153)
130 The PAGE Study NC_000001.11 - 206766559 Jul 12, 2019 (153)
131 Qatari NC_000001.10 - 206939904 Apr 25, 2020 (154)
132 SGDP_PRJ NC_000001.10 - 206939904 Apr 25, 2020 (154)
133 Siberian NC_000001.10 - 206939904 Apr 25, 2020 (154)
134 TopMed NC_000001.11 - 206766559 Oct 11, 2018 (152)
135 UK 10K study - Twins NC_000001.10 - 206939904 Oct 11, 2018 (152)
136 A Vietnamese Genetic Variation Database NC_000001.10 - 206939904 Jul 12, 2019 (153)
137 dbGaP Population Frequency Project NC_000001.11 - 206766559 Apr 25, 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)
rs58697191 May 24, 2008 (130)
rs386578689 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638920270, ss3639458839 NC_000001.8:203328298:G:A NC_000001.11:206766558:G:A (self)
31191, 38906, ss108894202, ss253777542, ss276190027, ss284215973, ss480743584, ss825487812, ss1397270039, ss1585464325, ss1712399219, ss2094856674, ss2635006395, ss3642816485, ss3847361014 NC_000001.9:205006526:G:A NC_000001.11:206766558:G:A (self)
5214928, 2871770, 2032445, 1855697, 14261675, 1254185, 3231691, 1085531, 1338137, 2771795, 714921, 2871770, 619922, ss218845112, ss230873398, ss238491417, ss480759416, ss481644500, ss485166541, ss491309617, ss537158291, ss648651773, ss778514899, ss780684149, ss783029497, ss783357580, ss783989239, ss832287106, ss832940691, ss833971206, ss976069308, ss1068546048, ss1294370292, ss1426090596, ss1574629470, ss1601987430, ss1644981463, ss1751894396, ss1751894397, ss1917741436, ss1919296207, ss1946021279, ss1958351106, ss1966653844, ss1966955195, ss2020168963, ss2094996547, ss2094996549, ss2148198567, ss2332117276, ss2632620300, ss2632620301, ss2698189876, ss2765434463, ss2984892148, ss2985536561, ss2988336425, ss3021173191, ss3343879294, ss3626291845, ss3626291846, ss3630650590, ss3632922853, ss3633618788, ss3634369308, ss3634369309, ss3635311947, ss3636048175, ss3637062478, ss3637809629, ss3640076662, ss3640076663, ss3644517282, ss3651516557, ss3651516558, ss3651516559, ss3653661833, ss3656294197, ss3727800666, ss3744359119, ss3744670140, ss3744670141, ss3747247901, ss3772171095, ss3772171096, ss3826607855, ss3850754815, ss3896054297 NC_000001.10:206939903:G:A NC_000001.11:206766558:G:A (self)
252042, 88566, 28107421, 351867232, ss2169516168, ss3023844418, ss3101610265, ss3688492841, ss3725099227, ss3770867097, ss3800254894 NC_000001.11:206766558:G:A NC_000001.11:206766558:G:A (self)
ss4250398, ss7987594, ss52087170, ss66072349, ss66584331, ss67288635, ss67691865, ss70767207, ss71341981, ss74914623, ss76003700, ss79157294, ss84143961, ss122163994, ss154252137, ss159429080, ss160607512, ss170277447, ss171525306, ss173554345, ss410927934 NT_167186.1:457682:G:A NC_000001.11:206766558:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

73 citations for rs3024505
PMID Title Author Year Journal
18836448 Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Franke A et al. 2008 Nature genetics
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
19468064 Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions. Fumagalli M et al. 2009 The Journal of experimental medicine
19505919 Toll-like receptor signaling pathway variants and prostate cancer mortality. Stark JR et al. 2009 Cancer epidemiology, biomarkers & prevention
19698145 Replication by the Epistasis Project of the interaction between the genes for IL-6 and IL-10 in the risk of Alzheimer's disease. Combarros O et al. 2009 Journal of neuroinflammation
19776214 SimCT: a generic tool to visualize ontology-based relationships for biological objects. Herrmann C et al. 2009 Bioinformatics (Oxford, England)
19838195 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Gateva V et al. 2009 Nature genetics
19915574 Common variants at five new loci associated with early-onset inflammatory bowel disease. Imielinski M 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
20228799 Genome-wide association identifies multiple ulcerative colitis susceptibility loci. McGovern DP et al. 2010 Nature genetics
20441431 Recent advances in the genetics of systemic lupus erythematosus. Flesher DL et al. 2010 Expert review of clinical immunology
20444268 Peripheral blood gene expression patterns discriminate among chronic inflammatory diseases and healthy controls and identify novel targets. Mesko B et al. 2010 BMC medical genomics
20509889 The polymorphism rs3024505 proximal to IL-10 is associated with risk of ulcerative colitis and Crohns disease in a Danish case-control study. Andersen V et al. 2010 BMC medical genetics
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20622878 Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Remmers EF et al. 2010 Nature genetics
20716621 Genetic polymorphisms in adaptive immunity genes and childhood acute lymphoblastic leukemia. Chang JS et al. 2010 Cancer epidemiology, biomarkers & prevention
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20848476 Genetic predictors of medically refractory ulcerative colitis. Haritunians T et al. 2010 Inflammatory bowel diseases
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
20933377 Recent findings on genetics of systemic autoimmune diseases. Delgado-Vega A et al. 2010 Current opinion in immunology
21102463 Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Franke A et al. 2010 Nature genetics
21245992 Polymorphisms in NF-κB, PXR, LXR, PPARγ and risk of inflammatory bowel disease. Andersen V et al. 2011 World journal of gastroenterology
21297633 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA et al. 2011 Nature genetics
21304977 An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. Juyal G et al. 2011 PloS one
21354456 The effect of IL-10 genetic variation and interleukin 10 serum levels on Crohn's disease susceptibility in a New Zealand population. Wang AH et al. 2011 Human immunology
21379322 Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes. Taylor KE et al. 2011 PLoS genetics
21408207 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. Chung SA et al. 2011 PLoS genetics
21487504 Immunopathogenesis of inflammatory bowel disease. Matricon J et al. 2010 Self/nonself
21565292 Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Han B et al. 2011 American journal of human 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
21852963 Pervasive sharing of genetic effects in autoimmune disease. Cotsapas C et al. 2011 PLoS genetics
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP et al. 2011 PLoS genetics
21995314 Assessment of heterogeneity between European Populations: a Baltic and Danish replication case-control study of SNPs from a recent European ulcerative colitis genome wide association study. Andersen V et al. 2011 BMC medical genetics
22046141 Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus. Cunninghame Graham DS et al. 2011 PLoS genetics
22278338 Confirmation of novel type 1 diabetes risk loci in families. Cooper JD et al. 2012 Diabetologia
22291604 A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese. Okada Y et al. 2012 PLoS genetics
22336179 IL-10 transcription is negatively regulated by BAF180, a component of the SWI/SNF chromatin remodeling enzyme. Wurster AL et al. 2012 BMC immunology
22396665 Interpreting meta-analyses of genome-wide association studies. Han B et al. 2012 PLoS genetics
22493750 Interactions between PPAR-α and inflammation-related cytokine genes on the development of Alzheimer's disease, observed by the Epistasis Project. Heun R et al. 2012 International journal of molecular epidemiology and genetics
22536486 Lupus nephritis: an overview of recent findings. de Zubiria Salgado A et al. 2012 Autoimmune diseases
22594912 Interaction between interleukin-10 (IL-10) polymorphisms and dietary fibre in relation to risk of colorectal cancer in a Danish case-cohort study. Andersen V et al. 2012 BMC cancer
22654485 Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing. Connolly JJ et al. 2012 Journal of biomedicine & biotechnology
22674296 Interleukin genes and associations with colon and rectal cancer risk and overall survival. Bondurant KL et al. 2013 International journal of cancer
22753952 Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways. Vaughn SE et al. 2012 Journal of leukocyte biology
22844404 Evidence of associations between cytokine genes and subjective reports of sleep disturbance in oncology patients and their family caregivers. Miaskowski C et al. 2012 PloS one
22988944 Network-based SNP meta-analysis identifies joint and disjoint genetic features across common human diseases. Arnold M et al. 2012 BMC genomics
23028907 Limited evidence for parent-of-origin effects in inflammatory bowel disease associated loci. Fransen K et al. 2012 PloS one
23326239 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). Rubicz R et al. 2013 PLoS genetics
23348120 Genetic susceptibility in IBD: overlap between ulcerative colitis and Crohn's disease. Doecke JD et al. 2013 Inflammatory bowel diseases
23804261 From markers to molecular mechanisms: type 1 diabetes in the post-GWAS era. Baxter AG et al. 2012 The review of diabetic studies
24502445 Cytokine candidate genes predict the development of secondary lymphedema following breast cancer surgery. Leung G et al. 2014 Lymphatic research and biology
24889212 Systematic review: interactions between aspirin, and other nonsteroidal anti-inflammatory drugs, and polymorphisms in relation to colorectal cancer. Andersen V et al. 2014 Alimentary pharmacology & therapeutics
24971461 Polymorphisms in the inflammatory pathway genes TLR2, TLR4, TLR9, LY96, NFKBIA, NFKB1, TNFA, TNFRSF1A, IL6R, IL10, IL23R, PTPN22, and PPARG are associated with susceptibility of inflammatory bowel disease in a Danish cohort. Bank S et al. 2014 PloS one
25034154 Clinical perspectives on lupus genetics: advances and opportunities. James JA et al. 2014 Rheumatic diseases clinics of North America
25133031 Genetic update on inflammatory factors in ulcerative colitis: Review of the current literature. Sarlos P et al. 2014 World journal of gastrointestinal pathophysiology
25369137 A multilocus genetic study in a cohort of Italian SLE patients confirms the association with STAT4 gene and describes a new association with HCP5 gene. Ciccacci C et al. 2014 PloS one
25491747 Interactions between meat intake and genetic variation in relation to colorectal cancer. Andersen V et al. 2015 Genes & nutrition
26732016 Collecting Biospecimens From an Internet-Based Prospective Cohort Study of Inflammatory Bowel Disease (CCFA Partners): A Feasibility Study. Randell RL et al. 2016 JMIR research protocols
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
27156530 Genetic variation in IBD: progress, clues to pathogenesis and possible clinical utility. Ye BD et al. 2016 Expert review of clinical immunology
27417569 Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. Bek S et al. 2016 Alimentary pharmacology & therapeutics
27906046 Chromatin landscapes and genetic risk in systemic lupus. Hui-Yuen JS et al. 2016 Arthritis research & therapy
28056976 A novel approach to genome-wide association analysis identifies genetic associations with primary biliary cholangitis and primary sclerosing cholangitis in Polish patients. Paziewska A et al. 2017 BMC medical genomics
29070082 Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms. Lindén M et al. 2017 Biology of sex differences
29487192 Association of <i>interleukin-10</i> gene single nucleotide polymorphisms with rheumatoid arthritis in a Chinese population. Zhang TP et al. 2018 Postgraduate medical journal
29566186 Meat and fiber intake and interaction with pattern recognition receptors (TLR1, TLR2, TLR4, and TLR10) in relation to colorectal cancer in a Danish prospective, case-cohort study. Kopp TI et al. 2018 The American journal of clinical nutrition
30568945 Genetic associations of inflammatory bowel disease in a South Asian population. Niriella MA et al. 2018 World journal of clinical cases
30801121 The Unsolved Link of Genetic Markers and Crohn's Disease Progression: A North American Cohort Experience. O'Donnell S et al. 2019 Inflammatory bowel diseases
30882006 <i>STAT4</i>, <i>TRAF3IP2</i>, <i>IL10</i>, and <i>HCP5</i> Polymorphisms in Sjögren's Syndrome: Association with Disease Susceptibility and Clinical Aspects. Colafrancesco S et al. 2019 Journal of immunology research
31052430 Genetic Studies of Inflammatory Bowel Disease-Focusing on Asian Patients. Park SC et al. 2019 Cells
31217170 Association of Epstein-Barr virus serological reactivation with transitioning to systemic lupus erythematosus in at-risk individuals. Jog NR et al. 2019 Annals of the rheumatic diseases
31605784 Genetic predictors of long-term response and trough levels of infliximab in crohn's disease. Salvador-Martín S et al. 2019 Pharmacological research
31651650 Genetic polymorphisms present in IL10, IL23R, NOD2, and ATG16L1 associated with susceptibility to inflammatory bowel disease in Mexican population. Quiroz-Cruz S et al. 2020 European journal of gastroenterology & hepatology
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.post536+f5d31d6