Tag
Bone & Joint
19 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1017861 | CHD7 CHD7 AIS susceptibility locus | Intronic variant in CHD7, a chromatin remodeler critical for neural crest cel... | Innate Immunity & Infection Defense | Moderate | |
| rs10738445 | BNC2 BNC2 AIS susceptibility variant | Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2... | Innate Immunity & Infection Defense | Strong | |
| rs118204437 | GALNS Arg386Cys | Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri... | Metabolic Enzymes & Rare Disorders | Established | |
| rs12883343 | NFKBIA NFKBIA/IkB-alpha variant | Regulatory variant near NFKBIA that specifically elevates risk for psoriatic ... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs11842874 | MCF2L | Intronic variant in MCF2L that acts as a synovial eQTL — A allele carriers ha... | Fitness & Body | Strong | |
| rs12946942 | SOX9 | Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24... | Innate Immunity & Infection Defense | Strong | |
| rs143383 | GDF5 C/T | Regulatory variant in GDF5 affecting cartilage development and osteoarthritis... | Fitness & Body | Established | |
| rs3738919 | ITGAV ITGAV integrin alpha-V variant | Intronic ITGAV variant associated with rheumatoid arthritis susceptibility in... | B-Cell Immunity & Antibody-Mediated Disease | Emerging | |
| rs1800012 | COL1A1 Sp1 Binding Site | Sp1 transcription factor binding site polymorphism affecting collagen product... | Fitness & Body | Strong | |
| rs35333564 | MIR4300HG AIS Progression Locus (intron 1 enhancer indel) | Intronic indel in the MIR4300 host gene that reduces enhancer activity and MI... | Innate Immunity & Infection Defense | Moderate | |
| rs7152376 | NFKBIA | Regulatory variant upstream of NFKBIA that specifically elevates risk of psor... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs7540214 | IFNLR1 IFNLR1 variant | Intronic variant in the interferon lambda receptor 1 gene that elevates PsA r... | Psoriasis & Spondyloarthropathy | Moderate | |
| rs2908004 | WNT16 Gly82Arg | Missense variant in WNT16 that substitutes glycine for arginine at position 8... | Fitness & Body | Strong | |
| rs3025058 | MMP3 5A/6A | Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca... | Fitness & Body | Strong | |
| rs3736228 | LRP5 A1330V | Wnt signaling co-receptor variant affecting bone mineral density and fracture... | Fitness & Body | Strong | |
| rs3801387 | WNT16 | Intronic variant affecting cortical bone thickness, bone mineral density, and... | Fitness & Body | Established | |
| rs4988321 | LRP5 Val667Met | Missense variant in LRP5 that substitutes valine for methionine at position 6... | Fitness & Body | Moderate | |
| rs753085 | COL27A1 | Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with alt... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs9594759 | TNFSF11 | Regulatory variant in the RANKL gene affecting bone mineral density and osteo... | Fitness & Body | Strong |