Trait
SNPs associated with Mixed Connective Tissue Disease
23 genetic variants across 16 genes have been associated with Mixed Connective Tissue Disease in published research. Key genes include BASP1, CDH4, HHEX.
Associated variants23 total
| rsid | Gene | Effect | Evidence |
|---|---|---|---|
| rs182529846 | HHEX | GWAS association (p=5.0e-14) | Major Consortium Study |
| rs562481287 | LOC102724892 | GWAS association (p=6.0e-14) | Major Consortium Study |
| rs139695700 | — | GWAS association (p=3.0e-13) | Major Consortium Study |
| rs189923567 | KCNMB2 | GWAS association (p=4.0e-13) | Major Consortium Study |
| rs141880493 | — | GWAS association (p=4.0e-13) | Major Consortium Study |
| rs548960401 | TRIM55 | GWAS association (p=5.0e-13) | Major Consortium Study |
| rs149527404 | — | GWAS association (p=1.0e-12) | Major Consortium Study |
| rs542312023 | UIMC1 | GWAS association (p=2.0e-12) | Major Consortium Study |
| rs548897351 | PTGIS | GWAS association (p=4.0e-12) | Major Consortium Study |
| rs566706373 | LOC124906148 | GWAS association (p=7.0e-12) | Major Consortium Study |
| rs188107551 | PTPRN2 | GWAS association (p=8.0e-12) | Major Consortium Study |
| rs138559816 | PFKP | GWAS association (p=9.0e-12) | Major Consortium Study |
| rs559354294 | — | GWAS association (p=9.0e-12) | Major Consortium Study |
| rs564525845 | MYRIP | GWAS association (p=1.0e-11) | Major Consortium Study |
| rs187257955 | — | GWAS association (p=1.0e-11) | Major Consortium Study |
| rs183986544 | — | GWAS association (p=2.0e-11) | Major Consortium Study |
| rs139886054 | BASP1 | GWAS association (p=2.0e-11) | Major Consortium Study |
| rs187248060 | PCLO | GWAS association (p=2.0e-11) | Major Consortium Study |
| rs566347593 | — | GWAS association (p=2.0e-11) | Major Consortium Study |
| rs570063769 | LRP11 | GWAS association (p=3.0e-11) | Major Consortium Study |
| rs550191976 | CDH4 | GWAS association (p=4.0e-11) | Major Consortium Study |
| rs556131763 | PBLD | GWAS association (p=4.0e-11) | Major Consortium Study |
| rs182995751 | SPOP | GWAS association (p=4.0e-11) | Major Consortium Study |
Associations aggregated from the GWAS Catalog and curated literature. Informational only — not medical advice.