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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.

rs12083537

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:154408627 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.219770 (58171/264690, TOPMED)
G=0.225327 (31526/139912, GnomAD)
G=0.21652 (17040/78698, PAGE_STUDY) (+ 19 more)
G=0.20978 (6754/32196, ALFA)
G=0.13590 (3840/28256, 14KJPN)
G=0.13663 (2290/16760, 8.3KJPN)
G=0.2032 (1301/6404, 1000G_30x)
G=0.2013 (1008/5008, 1000G)
G=0.1665 (746/4480, Estonian)
G=0.2063 (795/3854, ALSPAC)
G=0.2157 (800/3708, TWINSUK)
G=0.1290 (378/2930, KOREAN)
G=0.1184 (217/1832, Korea1K)
G=0.191 (191/998, GoNL)
G=0.087 (69/790, PRJEB37584)
G=0.180 (108/600, NorthernSweden)
G=0.186 (59/318, HapMap)
G=0.162 (35/216, Qatari)
G=0.104 (22/212, Vietnamese)
A=0.438 (70/160, SGDP_PRJ)
G=0.15 (6/40, GENOME_DK)
A=0.33 (4/12, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
IL6R : Intron Variant
Publications
17 citations
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 36012 A=0.79121 G=0.20879
European Sub 29054 A=0.79645 G=0.20355
African Sub 3604 A=0.7109 G=0.2891
African Others Sub 124 A=0.726 G=0.274
African American Sub 3480 A=0.7103 G=0.2897
Asian Sub 162 A=0.914 G=0.086
East Asian Sub 134 A=0.903 G=0.097
Other Asian Sub 28 A=0.96 G=0.04
Latin American 1 Sub 168 A=0.827 G=0.173
Latin American 2 Sub 700 A=0.863 G=0.137
South Asian Sub 120 A=0.867 G=0.133
Other Sub 2204 A=0.8149 G=0.1851


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=0.780230 G=0.219770
gnomAD - Genomes Global Study-wide 139912 A=0.774673 G=0.225327
gnomAD - Genomes European Sub 75806 A=0.79086 G=0.20914
gnomAD - Genomes African Sub 41894 A=0.70898 G=0.29102
gnomAD - Genomes American Sub 13614 A=0.82856 G=0.17144
gnomAD - Genomes Ashkenazi Jewish Sub 3318 A=0.8586 G=0.1414
gnomAD - Genomes East Asian Sub 3130 A=0.9163 G=0.0837
gnomAD - Genomes Other Sub 2150 A=0.8070 G=0.1930
The PAGE Study Global Study-wide 78698 A=0.78348 G=0.21652
The PAGE Study AfricanAmerican Sub 32516 A=0.70627 G=0.29373
The PAGE Study Mexican Sub 10808 A=0.87620 G=0.12380
The PAGE Study Asian Sub 8318 A=0.8526 G=0.1474
The PAGE Study PuertoRican Sub 7918 A=0.7849 G=0.2151
The PAGE Study NativeHawaiian Sub 4534 A=0.9052 G=0.0948
The PAGE Study Cuban Sub 4228 A=0.7862 G=0.2138
The PAGE Study Dominican Sub 3828 A=0.7563 G=0.2437
The PAGE Study CentralAmerican Sub 2450 A=0.8514 G=0.1486
The PAGE Study SouthAmerican Sub 1982 A=0.8698 G=0.1302
The PAGE Study NativeAmerican Sub 1260 A=0.8230 G=0.1770
The PAGE Study SouthAsian Sub 856 A=0.871 G=0.129
Allele Frequency Aggregator Total Global 32196 A=0.79022 G=0.20978
Allele Frequency Aggregator European Sub 25462 A=0.79589 G=0.20411
Allele Frequency Aggregator African Sub 3602 A=0.7110 G=0.2890
Allele Frequency Aggregator Other Sub 1982 A=0.8179 G=0.1821
Allele Frequency Aggregator Latin American 2 Sub 700 A=0.863 G=0.137
Allele Frequency Aggregator Latin American 1 Sub 168 A=0.827 G=0.173
Allele Frequency Aggregator Asian Sub 162 A=0.914 G=0.086
Allele Frequency Aggregator South Asian Sub 120 A=0.867 G=0.133
14KJPN JAPANESE Study-wide 28256 A=0.86410 G=0.13590
8.3KJPN JAPANESE Study-wide 16760 A=0.86337 G=0.13663
1000Genomes_30x Global Study-wide 6404 A=0.7968 G=0.2032
1000Genomes_30x African Sub 1786 A=0.6764 G=0.3236
1000Genomes_30x Europe Sub 1266 A=0.8033 G=0.1967
1000Genomes_30x South Asian Sub 1202 A=0.8403 G=0.1597
1000Genomes_30x East Asian Sub 1170 A=0.8983 G=0.1017
1000Genomes_30x American Sub 980 A=0.834 G=0.166
1000Genomes Global Study-wide 5008 A=0.7987 G=0.2013
1000Genomes African Sub 1322 A=0.6725 G=0.3275
1000Genomes East Asian Sub 1008 A=0.8899 G=0.1101
1000Genomes Europe Sub 1006 A=0.8072 G=0.1928
1000Genomes South Asian Sub 978 A=0.842 G=0.158
1000Genomes American Sub 694 A=0.834 G=0.166
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8335 G=0.1665
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.7937 G=0.2063
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.7843 G=0.2157
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8710 G=0.1290
Korean Genome Project KOREAN Study-wide 1832 A=0.8816 G=0.1184
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.809 G=0.191
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.913 G=0.087
CNV burdens in cranial meningiomas CRM Sub 790 A=0.913 G=0.087
Northern Sweden ACPOP Study-wide 600 A=0.820 G=0.180
HapMap Global Study-wide 318 A=0.814 G=0.186
HapMap African Sub 120 A=0.767 G=0.233
HapMap American Sub 112 A=0.848 G=0.152
HapMap Asian Sub 86 A=0.84 G=0.16
Qatari Global Study-wide 216 A=0.838 G=0.162
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.896 G=0.104
SGDP_PRJ Global Study-wide 160 A=0.438 G=0.562
The Danish reference pan genome Danish Study-wide 40 A=0.85 G=0.15
Siberian Global Study-wide 12 A=0.33 G=0.67
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.154408627A>G
GRCh37.p13 chr 1 NC_000001.10:g.154381103A>G
IL6R RefSeqGene NG_012087.1:g.8435A>G
Gene: IL6R, interleukin 6 receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
IL6R transcript variant 1 NM_000565.4:c.85+2913A>G N/A Intron Variant
IL6R transcript variant 3 NM_001206866.2:c.85+2913A…

NM_001206866.2:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 4 NM_001382769.1:c.85+2913A…

NM_001382769.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 5 NM_001382770.1:c.85+2913A…

NM_001382770.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 6 NM_001382771.1:c.85+2913A…

NM_001382771.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 7 NM_001382772.1:c.85+2913A…

NM_001382772.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 8 NM_001382773.1:c.85+2913A…

NM_001382773.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 9 NM_001382774.1:c.85+2913A…

NM_001382774.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant 2 NM_181359.3:c.85+2913A>G N/A Intron Variant
IL6R transcript variant X8 XM_005245139.2:c.85+2913A…

XM_005245139.2:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant X1 XM_017001199.2:c.85+2913A…

XM_017001199.2:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant X5 XM_047419654.1:c.85+2913A…

XM_047419654.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant X6 XM_047419655.1:c.85+2913A…

XM_047419655.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant X7 XM_047419656.1:c.85+2913A…

XM_047419656.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant X9 XM_047419657.1:c.85+2913A…

XM_047419657.1:c.85+2913A>G

N/A Intron Variant
IL6R transcript variant X2 XM_047419648.1:c. N/A Genic Upstream Transcript Variant
IL6R transcript variant X3 XM_047419649.1:c. N/A Genic Upstream Transcript Variant
IL6R transcript variant X4 XM_047419650.1:c. N/A Genic Upstream 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
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement A= G
GRCh38.p14 chr 1 NC_000001.11:g.154408627= NC_000001.11:g.154408627A>G
GRCh37.p13 chr 1 NC_000001.10:g.154381103= NC_000001.10:g.154381103A>G
IL6R RefSeqGene NG_012087.1:g.8435= NG_012087.1:g.8435A>G
IL6R transcript variant 1 NM_000565.3:c.85+2913= NM_000565.3:c.85+2913A>G
IL6R transcript variant 1 NM_000565.4:c.85+2913= NM_000565.4:c.85+2913A>G
IL6R transcript variant 3 NM_001206866.1:c.85+2913= NM_001206866.1:c.85+2913A>G
IL6R transcript variant 3 NM_001206866.2:c.85+2913= NM_001206866.2:c.85+2913A>G
IL6R transcript variant 4 NM_001382769.1:c.85+2913= NM_001382769.1:c.85+2913A>G
IL6R transcript variant 5 NM_001382770.1:c.85+2913= NM_001382770.1:c.85+2913A>G
IL6R transcript variant 6 NM_001382771.1:c.85+2913= NM_001382771.1:c.85+2913A>G
IL6R transcript variant 7 NM_001382772.1:c.85+2913= NM_001382772.1:c.85+2913A>G
IL6R transcript variant 8 NM_001382773.1:c.85+2913= NM_001382773.1:c.85+2913A>G
IL6R transcript variant 9 NM_001382774.1:c.85+2913= NM_001382774.1:c.85+2913A>G
IL6R transcript variant 2 NM_181359.2:c.85+2913= NM_181359.2:c.85+2913A>G
IL6R transcript variant 2 NM_181359.3:c.85+2913= NM_181359.3:c.85+2913A>G
IL6R transcript variant X6 XM_005245139.1:c.85+2913= XM_005245139.1:c.85+2913A>G
IL6R transcript variant X8 XM_005245139.2:c.85+2913= XM_005245139.2:c.85+2913A>G
IL6R transcript variant X4 XM_005245140.1:c.85+2913= XM_005245140.1:c.85+2913A>G
IL6R transcript variant X1 XM_017001199.2:c.85+2913= XM_017001199.2:c.85+2913A>G
IL6R transcript variant X5 XM_047419654.1:c.85+2913= XM_047419654.1:c.85+2913A>G
IL6R transcript variant X6 XM_047419655.1:c.85+2913= XM_047419655.1:c.85+2913A>G
IL6R transcript variant X7 XM_047419656.1:c.85+2913= XM_047419656.1:c.85+2913A>G
IL6R transcript variant X9 XM_047419657.1:c.85+2913= XM_047419657.1:c.85+2913A>G
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

88 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18185741 Feb 28, 2004 (120)
2 SSAHASNP ss20531031 Apr 05, 2004 (121)
3 ABI ss41280144 Mar 14, 2006 (126)
4 BCMHGSC_JDW ss87824158 Mar 23, 2008 (129)
5 HUMANGENOME_JCVI ss97974761 Feb 05, 2009 (130)
6 BGI ss102785535 Dec 01, 2009 (131)
7 1000GENOMES ss108598290 Jan 23, 2009 (130)
8 ENSEMBL ss138083064 Dec 01, 2009 (131)
9 ENSEMBL ss139211039 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss167132154 Jul 04, 2010 (132)
11 BUSHMAN ss199084887 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss205383601 Jul 04, 2010 (132)
13 1000GENOMES ss218650782 Jul 14, 2010 (132)
14 1000GENOMES ss230731562 Jul 14, 2010 (132)
15 1000GENOMES ss238379522 Jul 15, 2010 (132)
16 ILLUMINA ss244275259 Jul 04, 2010 (132)
17 GMI ss276050797 May 04, 2012 (137)
18 PJP ss290636842 May 09, 2011 (134)
19 ILLUMINA ss482106081 May 04, 2012 (137)
20 ILLUMINA ss483213860 May 04, 2012 (137)
21 ILLUMINA ss535433379 Sep 08, 2015 (146)
22 TISHKOFF ss554692742 Apr 25, 2013 (138)
23 SSMP ss648413331 Apr 25, 2013 (138)
24 ILLUMINA ss780193516 Sep 08, 2015 (146)
25 ILLUMINA ss782050275 Sep 08, 2015 (146)
26 ILLUMINA ss835677950 Sep 08, 2015 (146)
27 EVA-GONL ss975681487 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1068268754 Aug 21, 2014 (142)
29 1000GENOMES ss1292921052 Aug 21, 2014 (142)
30 DDI ss1425978611 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1574391362 Apr 01, 2015 (144)
32 EVA_DECODE ss1585062754 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1601211529 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1644205562 Apr 01, 2015 (144)
35 HAMMER_LAB ss1795090903 Sep 08, 2015 (146)
36 WEILL_CORNELL_DGM ss1918915371 Feb 12, 2016 (147)
37 ILLUMINA ss1958317360 Feb 12, 2016 (147)
38 JJLAB ss2019973203 Sep 14, 2016 (149)
39 ILLUMINA ss2094976232 Dec 20, 2016 (150)
40 USC_VALOUEV ss2147997653 Dec 20, 2016 (150)
41 HUMAN_LONGEVITY ss2166531227 Dec 20, 2016 (150)
42 ILLUMINA ss2632575929 Nov 08, 2017 (151)
43 ILLUMINA ss2635003244 Nov 08, 2017 (151)
44 GRF ss2697970492 Nov 08, 2017 (151)
45 GNOMAD ss2761302340 Nov 08, 2017 (151)
46 SWEGEN ss2987750243 Nov 08, 2017 (151)
47 ILLUMINA ss3021136050 Nov 08, 2017 (151)
48 BIOINF_KMB_FNS_UNIBA ss3023743729 Nov 08, 2017 (151)
49 CSHL ss3343710041 Nov 08, 2017 (151)
50 ILLUMINA ss3626208127 Oct 11, 2018 (152)
51 ILLUMINA ss3630608837 Oct 11, 2018 (152)
52 ILLUMINA ss3641616603 Oct 11, 2018 (152)
53 URBANLAB ss3646791027 Oct 11, 2018 (152)
54 ILLUMINA ss3651470234 Oct 11, 2018 (152)
55 ILLUMINA ss3651470235 Oct 11, 2018 (152)
56 EGCUT_WGS ss3655690185 Jul 12, 2019 (153)
57 EVA_DECODE ss3687779882 Jul 12, 2019 (153)
58 ILLUMINA ss3725065186 Jul 12, 2019 (153)
59 ACPOP ss3727484758 Jul 12, 2019 (153)
60 EVA ss3746806716 Jul 12, 2019 (153)
61 PAGE_CC ss3770840769 Jul 12, 2019 (153)
62 KHV_HUMAN_GENOMES ss3799808584 Jul 12, 2019 (153)
63 EVA ss3826423529 Apr 25, 2020 (154)
64 EVA ss3836606240 Apr 25, 2020 (154)
65 EVA ss3842015455 Apr 25, 2020 (154)
66 SGDP_PRJ ss3850004420 Apr 25, 2020 (154)
67 KRGDB ss3895210210 Apr 25, 2020 (154)
68 KOGIC ss3945648471 Apr 25, 2020 (154)
69 EVA ss3984464725 Apr 25, 2021 (155)
70 TOPMED ss4468259955 Apr 25, 2021 (155)
71 TOMMO_GENOMICS ss5146477461 Apr 25, 2021 (155)
72 EVA ss5237273994 Apr 25, 2021 (155)
73 1000G_HIGH_COVERAGE ss5244289050 Oct 17, 2022 (156)
74 EVA ss5314650897 Oct 17, 2022 (156)
75 EVA ss5322042588 Oct 17, 2022 (156)
76 HUGCELL_USP ss5444882821 Oct 17, 2022 (156)
77 1000G_HIGH_COVERAGE ss5517615271 Oct 17, 2022 (156)
78 SANFORD_IMAGENETICS ss5624218012 Oct 17, 2022 (156)
79 SANFORD_IMAGENETICS ss5626589383 Oct 17, 2022 (156)
80 TOMMO_GENOMICS ss5673671335 Oct 17, 2022 (156)
81 YY_MCH ss5801259205 Oct 17, 2022 (156)
82 EVA ss5832663967 Oct 17, 2022 (156)
83 EVA ss5847166815 Oct 17, 2022 (156)
84 EVA ss5847556301 Oct 17, 2022 (156)
85 EVA ss5849108455 Oct 17, 2022 (156)
86 EVA ss5910241014 Oct 17, 2022 (156)
87 EVA ss5938383067 Oct 17, 2022 (156)
88 EVA ss5979290036 Oct 17, 2022 (156)
89 1000Genomes NC_000001.10 - 154381103 Oct 11, 2018 (152)
90 1000Genomes_30x NC_000001.11 - 154408627 Oct 17, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 154381103 Oct 11, 2018 (152)
92 Genetic variation in the Estonian population NC_000001.10 - 154381103 Oct 11, 2018 (152)
93 The Danish reference pan genome NC_000001.10 - 154381103 Apr 25, 2020 (154)
94 gnomAD - Genomes NC_000001.11 - 154408627 Apr 25, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000001.10 - 154381103 Apr 25, 2020 (154)
96 HapMap NC_000001.11 - 154408627 Apr 25, 2020 (154)
97 KOREAN population from KRGDB NC_000001.10 - 154381103 Apr 25, 2020 (154)
98 Korean Genome Project NC_000001.11 - 154408627 Apr 25, 2020 (154)
99 Northern Sweden NC_000001.10 - 154381103 Jul 12, 2019 (153)
100 The PAGE Study NC_000001.11 - 154408627 Jul 12, 2019 (153)
101 CNV burdens in cranial meningiomas NC_000001.10 - 154381103 Apr 25, 2021 (155)
102 Qatari NC_000001.10 - 154381103 Apr 25, 2020 (154)
103 SGDP_PRJ NC_000001.10 - 154381103 Apr 25, 2020 (154)
104 Siberian NC_000001.10 - 154381103 Apr 25, 2020 (154)
105 8.3KJPN NC_000001.10 - 154381103 Apr 25, 2021 (155)
106 14KJPN NC_000001.11 - 154408627 Oct 17, 2022 (156)
107 TopMed NC_000001.11 - 154408627 Apr 25, 2021 (155)
108 UK 10K study - Twins NC_000001.10 - 154381103 Oct 11, 2018 (152)
109 A Vietnamese Genetic Variation Database NC_000001.10 - 154381103 Jul 12, 2019 (153)
110 ALFA NC_000001.11 - 154408627 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss87824158, ss108598290, ss167132154, ss199084887, ss205383601, ss276050797, ss290636842, ss482106081, ss1585062754, ss2635003244 NC_000001.9:152647726:A:G NC_000001.11:154408626:A:G (self)
3712927, 2018471, 1428433, 1708241, 877193, 2387604, 769623, 14039, 957301, 2021400, 514007, 4446768, 2018471, 433878, ss218650782, ss230731562, ss238379522, ss483213860, ss535433379, ss554692742, ss648413331, ss780193516, ss782050275, ss835677950, ss975681487, ss1068268754, ss1292921052, ss1425978611, ss1574391362, ss1601211529, ss1644205562, ss1795090903, ss1918915371, ss1958317360, ss2019973203, ss2094976232, ss2147997653, ss2632575929, ss2697970492, ss2761302340, ss2987750243, ss3021136050, ss3343710041, ss3626208127, ss3630608837, ss3641616603, ss3651470234, ss3651470235, ss3655690185, ss3727484758, ss3746806716, ss3826423529, ss3836606240, ss3850004420, ss3895210210, ss3984464725, ss5146477461, ss5237273994, ss5314650897, ss5322042588, ss5624218012, ss5626589383, ss5832663967, ss5847166815, ss5847556301, ss5938383067, ss5979290036 NC_000001.10:154381102:A:G NC_000001.11:154408626:A:G (self)
5141206, 27016210, 176287, 2026472, 62238, 7508439, 31866290, 9042765041, ss2166531227, ss3023743729, ss3646791027, ss3687779882, ss3725065186, ss3770840769, ss3799808584, ss3842015455, ss3945648471, ss4468259955, ss5244289050, ss5444882821, ss5517615271, ss5673671335, ss5801259205, ss5849108455, ss5910241014 NC_000001.11:154408626:A:G NC_000001.11:154408626:A:G (self)
ss41280144, ss97974761, ss102785535, ss138083064, ss139211039, ss244275259 NT_004487.19:5869744:A:G NC_000001.11:154408626:A:G (self)
ss18185741, ss20531031 NT_079484.1:830934:A:G NC_000001.11:154408626:A:G (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.

17 citations for rs12083537
PMID Title Author Year Journal
18781131 Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma. Gu F et al. 2008 Melanoma research
18852330 Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women. Qi L et al. 2009 Diabetes
21523452 Genetic variation in proinflammatory cytokines IL6, IL6R, TNF-region, and TNFRSF1A and risk of breast cancer. Madeleine MM et al. 2011 Breast cancer research and treatment
22106445 HTR1B, ADIPOR1, PPARGC1A, and CYP19A1 and obesity in a cohort of Caucasians and African Americans: an evaluation of gene-environment interactions and candidate genes. Edwards TL et al. 2012 American journal of epidemiology
24978393 Interleukin-6-receptor polymorphisms rs12083537, rs2228145, and rs4329505 as predictors of response to tocilizumab in rheumatoid arthritis. Enevold C et al. 2014 Pharmacogenetics and genomics
25781951 Analysis of the role of interleukin 6 receptor haplotypes in the regulation of circulating levels of inflammatory biomarkers and risk of coronary heart disease. Gigante B et al. 2015 PloS one
26336855 Variation at interleukin-6 receptor gene is associated to joint damage in rheumatoid arthritis. Lopez-Lasanta M et al. 2015 Arthritis research & therapy
26997259 The IL6R gene polymorphisms are associated with sIL-6R, IgE and lung function in Chinese patients with asthma. Wang Y et al. 2016 Gene
27958380 Influence of IL6R gene polymorphisms in the effectiveness to treatment with tocilizumab in rheumatoid arthritis. Maldonado-Montoro M et al. 2018 The pharmacogenomics journal
29513361 A pilot study of single nucleotide polymorphisms in the interleukin-6 receptor and their effects on pre- and post-transplant serum mediator level and outcome after allogeneic stem cell transplantation. Tvedt THA et al. 2018 Clinical and experimental immunology
30647443 A single nucleotide polymorphism of IL6-receptor is associated with response to tocilizumab in rheumatoid arthritis patients. Luxembourger C et al. 2019 The pharmacogenomics journal
30651573 Prognostic role of genetic polymorphisms of the interleukin-6 signaling pathway in patients with severe heart failure. Hansen PR et al. 2019 The pharmacogenomics journal
31836512 Polymorphism of IL6 receptor gene is associated with ischaemic stroke in patients with metabolic syndrome. Huang X et al. 2020 Brain research
32936528 Important Pharmacogenetic Information for Drugs Prescribed During the SARS-CoV-2 Infection (COVID-19). Zubiaur P et al. 2020 Clinical and translational science
35124268 Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. Li J et al. 2022 Clinical gastroenterology and hepatology
35886067 Genetic Biomarkers as Predictors of Response to Tocilizumab in Rheumatoid Arthritis: A Systematic Review and Meta-Analysis. Janahiraman S et al. 2022 Genes
36058033 Associations between the interleukin-6 rs1800795 G/C and interleukin-6 receptor rs12083537 A/G polymorphisms and response to disease-modifying antirheumatic drugs in rheumatoid arthritis: A meta-analysis. Lee YH et al. 2022 International immunopharmacology
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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.post761+d5e8e07