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SNP rs8192284
Basic Information
Name
rs8192284
Chromosome
1
Position
152693594
Weight of evidence
84
Genotype Frequency
Allele Frequency
Additional Information
SNPedia (3)
PLoS (17)
Mendeley (33)
Personal Genome Project (0)
Genome.gov (1)
Other users (1712)
Comments (0)
Links to SNPedia
Title
Summary
rs8192284 A/C
1.7x increased melanoma risk
rs8192284 A/A
Reduced risk of multiple myeloma |repute=good
rs8192284 C/C
2.5x increased risk of multiple myeloma versus aa genotype
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
First Author
Title
Year of Publication
# of readers
Katie Stone
Interleukin-6 Receptor Polymorphism Is Prevalent in HIV-negative Castleman Disease and Is Associated with Increased Soluble Interleukin-6 Receptor Levels
2013
3565
Luz María Medrano
Th17-Related Genes and Celiac Disease Susceptibility
2012
4354
Yuanliang Xie
Serum Uric Acid and Non-Alcoholic Fatty Liver Disease in Non-Diabetic Chinese Men
2013
8494
Silvia Naitza
A Genome-Wide Association Scan on the Levels of Markers of Inflammation in Sardinians Reveals Associations That Underpin Its Complex Regulation
2012
10101
Ricardo C. Ferreira
Functional
IL6R
358Ala Allele Impairs Classical IL-6 Receptor Signaling and Influences Risk of Diverse Inflammatory Diseases
2013
8839
Wei Han
Functional Polymorphisms in FAS/FASL System Increase the Risk of Neuroblastoma in Chinese Population
2013
1753
Evangelina López de Maturana
Application of Multi-SNP Approaches Bayesian LASSO and AUC-RF to Detect Main Effects of Inflammatory-Gene Variants Associated with Bladder Cancer Risk
2013
3114
Laia Masvidal
Polymorphisms in the
Calcium-Sensing Receptor
Gene Are Associated with Clinical Outcome of Neuroblastoma
2013
2309
Andrew R. Wood
Imputation of Variants from the 1000 Genomes Project Modestly Improves Known Associations and Can Identify Low-frequency Variant - Phenotype Associations Undetected by HapMap Based Imputation
2013
4719
Nadimuthu Vinayagamoorthy
New Variants Including
ARG1
Polymorphisms Associated with C-Reactive Protein Levels Identified by Genome-Wide Association and Pathway Analysis
2014
3394
Francesca Totaro
Impact of Interleukin-6 –174 G>C Gene Promoter Polymorphism on Neuroblastoma
2013
2137
Bruna Gigante
Analysis of the Role of Interleukin 6 Receptor Haplotypes in the Regulation of Circulating Levels of Inflammatory Biomarkers and Risk of Coronary Heart Disease
2015
1990
Daniel T. Barratt
Innate Immune Signalling Genetics of Pain, Cognitive Dysfunction and Sickness Symptoms in Cancer Pain Patients Treated with Transdermal Fentanyl
2015
2411
Bram. P. Prins
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study
2016
8687
Wei Sun
Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD
2016
4960
Chike O. Abana
IL-6
variant is associated with metastasis in breast cancer patients
2017
1865
Paul S. de Vries
Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study
2017
3393
Publications on this SNP on Mendeley
First Author
Title
Pub. Year
# of Readers
DOI
M Bustamante
Polymorphisms in the interleukin-6 receptor gene are associated with bone mineral density and body mass index in Spanish postmenopausal women.
2007
6
10.1530/EJE-07-0389
M C Cénit
No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
2012
3
10.1111/j.1399-0039.2012.01915.x
Luis Rodríguez-Rodríguez
Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity.
2011
7
-
L Qi
Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women
2009
1
Lu Qi
Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women.
2009
9
10.2337/db08-0968
Chao Qiang Jiang
Interleukin-6 receptor gene polymorphism modulates interleukin-6 levels and the metabolic syndrome: GBCS-CVD.
2010
6
-
Min Wang
Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han
2010
3
10.1016/j.brainres.2010.02.067
Consortium
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
2012
8
-
M C Cénit
No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis.
2012
6
10.1111/j.1399-0039.2012.01915.x
Min Wang
Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han.
2010
3
10.1016/j.brainres.2010.02.067
José Ramón Lamas
Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis.
2010
4
10.3899/jrheum.091455
José Ramón Lamas
Alternative splicing and proteolytic rupture contribute to the generation of soluble IL-6 receptors (sIL-6R) in rheumatoid arthritis.
2013
1
10.1016/j.cyto.2012.12.025
Luis Rodríguez-Rodríguez
Plasma soluble IL-6 receptor concentration in rheumatoid arthritis: associations with the rs8192284 IL6R polymorphism and with disease activity.
2011
10
10.1007/s00296-010-1593-0
José Ramón Lamas
Alternative splicing and proteolytic rupture contribute to the generation of soluble IL-6 receptors (sIL-6R) in rheumatoid arthritis.
2013
4
10.1016/j.cyto.2012.12.025
M Wang
Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han
2010
1
10.1016/j.brainres.2010.02.067\rS0006-8993(10)00473-7 [pii]
Min Wang
Interleukin-6 receptor gene polymorphisms were associated with sporadic Alzheimer's disease in Chinese Han.
2010
4
-
Consortium
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
2012
1
-
Nain-Feng Chu
Interleukin-6 Receptor Gene 48892 A/C Polymorphism Is Associated with Metabolic Syndrome in Female Taiwanese Adolescents
2012
1
10.1089/gtmb.2012.0188
Batool Hassan
Genotype at the sIL-6R A358C polymorphism does not influence response to anti-TNF therapy in patients with rheumatoid arthritis.
2010
4
-
Jos?? Ram??n Lamas
Alternative splicing and proteolytic rupture contribute to the generation of soluble IL-6 receptors (sIL-6R) in rheumatoid arthritis
2013
4
10.1016/j.cyto.2012.12.025
S Rafiq
A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.
2007
16
10.1038/sj.gene.6364414
Consortium
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.
2012
5
-
José Ramón Lamas
Influence of IL6R rs8192284 polymorphism status in disease activity in rheumatoid arthritis.
2010
3
-
I Marinou
A gain of function polymorphism in the interleukin-6 receptor influences RA susceptibility
2009
8
10.1136/ard.2008.100644
Fangyi Gu
Interleukin and interleukin receptor gene polymorphisms and susceptibility to melanoma.
2008
4
-
Chang-Hsun Hsieh
Interleukin-6 receptor gene 48892 A/C polymorphism is associated with metabolic syndrome in female Taiwanese adolescents.
2012
1
-
Lu Qi
Interleukin-6 receptor gene variations, plasma interleukin-6 levels, and type 2 diabetes in U.S. Women.
2007
11
10.2337/db07-0505
L. Qi
Interleukin-6 Receptor Gene, Plasma C-Reactive Protein, and Diabetes Risk in Women
2009
10
10.2337/db08-0968
Lu Qi
Interleukin-6 receptor gene variations, plasma interleukin-6 levels, and type 2 diabetes in U.S. Women.
2007
7
-
I Marinou
A gain of function polymorphism in the interleukin 6 receptor influences RA susceptibility.
2010
11
10.1136/ard.2008.100644
Lu Qi
Interleukin-6 Receptor Gene, Plasma C-Reactive Protein, and Diabetes Risk in Women
2009
9
10.2337/db08-0968
Batool Hassan
Genotype at the sIL-6R A358C polymorphism does not influence response to anti-TNF therapy in patients with rheumatoid arthritis.
2010
5
10.1093/rheumatology/kep372
M C Cenit
No evidence of association between functional polymorphisms located within IL6R and IL6ST genes and systemic sclerosis
2012
1
10.1111/j.1399-0039.2012.01915.x
Evidence compiled by the
Personal Genome Project
There are no results from the
Personal Genome Project
yet. Please come back later.
Publications listed by
Genome.gov
First Author
Title
Journal
Publication Date
Trait
p-value
Confidence Interval
Danik JS
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
Circ Cardiovasc Genet
04/01/2009
Fibrinogen
2.0e-11
[NR] mg/dl decrease
Users who share this SNP:
Genome Browser