rs4252548, IL11

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.710 GeneticVariation GWASCAT Identification of new therapeutic targets for osteoarthritis through genome-wide analyses of UK Biobank data. 30664745 2019
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.710 GeneticVariation GWASCAT Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). 30374069 2018
Osteoarthritis of hip
CUI: C0029410
Disease: Osteoarthritis of hip
0.710 GeneticVariation BEFREE Two associations are between rare or low-frequency missense variants and hip osteoarthritis, affecting the genes SMO (rs143083812, frequency 0.11%, odds ratio (OR) = 2.8, P = 7.9 × 10<sup>-12</sup>, p.Arg173Cys) and IL11 (rs4252548, frequency 2.08%, OR = 1.30, P = 2.1 × 10<sup>-11</sup>, p.Arg112His). 30374069 2018
Body Height
CUI: C0005890
Disease: Body Height
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Vital capacity
CUI: C0042834
Disease: Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Height
CUI: C0489786
Disease: Height
0.700 GeneticVariation GWASDB Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. 21194676 2011