Source: BEFREE ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4129267
rs4129267
0.820 GeneticVariation BEFREE The IL6R single nucleotide polymorphism (SNP) rs4129267 has recently been identified as an asthma susceptibility locus in subjects of European ancestry but has not been characterized with respect to asthma severity. 22554704

2012

dbSNP: rs4129267
rs4129267
0.820 GeneticVariation BEFREE Two loci were confirmed to associate with asthma risk in the replication cohorts and reached genome-wide significance in the combined analysis of all available studies (n=57,800): rs4129267 (OR 1·09, combined p=2·4×10(-8)) in the interleukin-6 receptor (IL6R) gene and rs7130588 (OR 1·09, p=1·8×10(-8)) on chromosome 11q13.5 near the leucine-rich repeat containing 32 gene (LRRC32, also known as GARP). 21907864

2011

dbSNP: rs2228145
rs2228145
0.040 GeneticVariation BEFREE The aims of this study were to evaluate whether there is an association between Asp358Ala</span> and COPD or asthma risk, and to explore the role of the Asp358Ala variant in sIL-6R shedding from neutrophils and its pro-inflammatory effects in the lung. 28334838

2017

dbSNP: rs2228145
rs2228145
0.040 GeneticVariation BEFREE Our results provide evidence that rs2228145 C and rs12083537 G are associated with poor lung function in patients with asthma. 26997259

2016

dbSNP: rs2228145
rs2228145
0.040 GeneticVariation BEFREE Although a common, non-synonymous variant in the IL-6 receptor gene (IL6R Asp358Ala; rs2228145 A>C) is associated with the risk of several common diseases, with the 358Ala allele conferring protection from coronary heart disease (CHD), rheumatoid arthritis (RA), atrial fibrillation (AF), abdominal aortic aneurysm (AAA), and increased susceptibility to asthma, the variant's effect on IL-6 signaling is not known. 23593036

2013

dbSNP: rs2228145
rs2228145
0.040 GeneticVariation BEFREE The IL6R coding SNP rs2228145 (Asp(358)Ala) is a potential modifier of lung function in subjects with asthma and might identify subjects at risk for more severe asthma. 22554704

2012

dbSNP: rs12083537
rs12083537
0.020 GeneticVariation BEFREE Our results provide evidence that rs2228145 C and rs12083537 G are associated with poor lung function in patients with asthma. 26997259

2016

dbSNP: rs12083537
rs12083537
0.020 GeneticVariation BEFREE On the other hand, results from 16,705 asthmatics and 30,809 controls showed that the rs12083537:A allele increased asthma risk by 1.04-fold (P=0.0419). 23945879

2013