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rs4129267

From SNPedia

Orientationplus
Stabilizedplus
Make rs4129267(C;C)
Make rs4129267(C;T)
Make rs4129267(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position154453788
GeneIL6R
is asnp
is mentioned by
dbSNPrs4129267
ebirs4129267
HLIrs4129267
Exacrs4129267
Varsomers4129267
Maprs4129267
PheGenIrs4129267
hapmaprs4129267
1000 genomesrs4129267
hgdprs4129267
ensemblrs4129267
gopubmedrs4129267
geneviewrs4129267
scholarrs4129267
googlers4129267
pharmgkbrs4129267
gwascentralrs4129267
openSNPrs4129267
23andMers4129267
23andMe allrs4129267
SNP Nexus

SNPshotrs4129267
SNPdbers4129267
MSV3drs4129267
GWAS Ctlgrs4129267
GMAF0.3186
Max Magnitude
? (C;C) (C;T) (T;T) 28
[PMID 18464913OA-icon.png] soluble IL6R (sIL-6R) protein levels
GWAS
SNP rs4129267
PubMedID [PMID 18464913OA-icon.png]
Condition Protein quantitative trait loci
Gene IL6R
Risk Allele C
pValue 2.00E-057
OR NA
95% CI


Neighborrs8192284
Distance707
GWAS snp
PMID [PMID 17903307OA-icon.png]
Trait Other pulmonary function traits
Title Framingham Heart Study genome-wide association: results for pulmonary function measures
Risk Allele
P-val 0.0000069999999999999999
Odds Ratio NR NR


GWAS snp
PMID [PMID 21300955OA-icon.png]
Trait
Title Meta-Analysis of Genome-Wide Association Studies in >80 000 Subjects Identifies Multiple Loci for C-Reactive Protein Levels
Risk Allele C
P-val 2E-48
Odds Ratio 0.0790 [0.07-0.09] unit increase


[PMID 21907864OA-icon.png] Identification of IL6R and chromosome 11q13.5 as risk loci for asthma


[PMID 22554704OA-icon.png] The IL6R variation Asp(358)Ala is a potential modifier of lung function in subjects with asthma

[PMID 17903300OA-icon.png] Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.

[PMID 18439548OA-icon.png] Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.

[PMID 18439552OA-icon.png] Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein.

[PMID 18852330OA-icon.png] Interleukin-6 receptor gene, plasma C-reactive protein, and diabetes risk in women.

[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

[PMID 19468064OA-icon.png] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

[PMID 20031577OA-icon.png] 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.

[PMID 21496483] Fatigued breast cancer survivors and gene polymorphisms in the inflammatory pathway.

[PMID 21647738OA-icon.png] Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.


GET Evidence
rs4129267
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.304688
summary



[PMID 23945879OA-icon.png] A new regulatory variant in the interleukin-6 receptor gene associates with asthma risk


[PMID 25073350] [Genetic aspects of occupational chronic obstructive lung disease under exposure to various risk factors]

GWAS snp
PMID [PMID 23969696OA-icon.png]
Trait Fibrinogen
Title Multiethnic meta-analysis of genome-wide association studies in >100 000 subjects identifies 23 fibrinogen-associated Loci but no strong evidence of a causal association between circulating fibrinogen and cardiovascular disease.
Risk Allele T
P-val 6E-27
Odds Ratio .01 [0.009-0.013] unit decrease