Tag
Connective Tissue
31 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs1036477 | FBN1 | Deep intronic FBN1 variant associated with larger ascending aortic dimensions... | Cardiomyopathy & Structural Heart | Strong | |
| rs10488631 | IRF5 | Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs10738445 | BNC2 BNC2 AIS susceptibility variant | Intronic enhancer variant in basonuclin-2 that increases YY1 binding and BNC2... | Innate Immunity & Infection Defense | Strong | |
| rs10859871 | VEZT | Intronic variant near the VEZT (vezatin) gene at 12q22 associated with increa... | Endometriosis & Uterine Health | Strong | |
| rs10954213 | IRF5 3'UTR polyadenylation | 3'UTR variant creating a functional polyadenylation site; A allele produces a... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs11269962 | IRF5 Regulatory | A 14-bp indel 2.2 kb upstream of IRF5 that is the most strongly associated ci... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs118204437 | GALNS Arg386Cys | Pathogenic missense variant abolishing GALNS enzyme activity; biallelic carri... | Metabolic Enzymes & Rare Disorders | Established | |
| rs1234314 | TNFSF4 | Intronic variant in TNFSF4 that reduces OX40 ligand promoter activity and is ... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs13245639 | IRF5 Regulatory | Cis-regulatory IRF5 variant in near-perfect LD (r²=0.97) with the rs729302 pr... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs10519177 | FBN1 | Intronic FBN1 variant that requires two copies of the G allele to impair fibr... | Cardiomyopathy & Structural Heart | Emerging | |
| rs12946942 | SOX9 | Intergenic variant in the SOX9 upstream regulatory region on chromosome 17q24... | Innate Immunity & Infection Defense | Strong | |
| rs2004640 | IRF5 G198T | Intronic variant creating alternative splice site that increases type I inter... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs2303729 | LTBP4 | Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IA... | Gamete Quality & DNA Repair | Strong | |
| rs140597 | FBN1 D1113G | Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating... | Cardiomyopathy & Structural Heart | Strong | |
| rs2280714 | IRF5 3'UTR | Downstream regulatory variant in the IRF5 3' region that elevates IRF5 mRNA e... | Interferon Signaling & Systemic Autoimmune | Moderate | |
| rs1516797 | ACAN | Intronic variant affecting aggrecan expression and cartilage integrity, assoc... | Fitness & Body | Moderate | |
| rs193922239 | FBN1 | Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with argini... | Cardiomyopathy & Structural Heart | Strong | |
| rs3131379 | MSH5 | Intronic variant in the HLA class III region near MSH5 associated with lupus ... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs35318931 | SRPX Ser413Phe | X-linked extracellular matrix variant affecting skin connective tissue integr... | Skin & Eyes | Moderate | |
| 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 | |
| rs4728142 | IRF5 Promoter Indel Tag (CGGGG insertion) | Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs201457110 | DCHS1 | Rare pathogenic missense variant in DCHS1 (R2513H) causing mitral valve prola... | Cardiomyopathy & Structural Heart | Moderate | |
| rs2118181 | FBN1 | Intronic FBN1 variant associated with elevated thoracic aortic dissection ris... | Cardiomyopathy & Structural Heart | Emerging | |
| rs729302 | IRF5 | Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg... | Interferon Signaling & Systemic Autoimmune | Strong | |
| rs55687265 | ATP8B4 ATP8B4 Phospholipid Flippase F436L | Missense variant in ATP8B4 converting phenylalanine to leucine at position 43... | B-Cell Immunity & Antibody-Mediated Disease | Moderate | |
| rs3825942 | LOXL1 G153D (Gly153Asp) | Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allel... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs28934568 | TGFBR2 | Pathogenic missense variant in TGFBR2 (Leu308Pro) causing Loeys-Dietz syndrom... | Vascular Inflammation & Remodeling | Established | |
| rs243865 | MMP2 C-1306T | Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz... | Fitness & Body | Moderate | |
| rs3025058 | MMP3 5A/6A | Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca... | Fitness & Body | Strong | |
| rs71180793 | OBSCN OBSCN c.23838del | Frameshift deletion in obscurin, a giant sarcomeric scaffold protein; heteroz... | Cardiomyopathy & Structural Heart | Emerging | |
| rs753085 | COL27A1 | Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with alt... | Coronary Artery Disease & Atherosclerosis | Moderate |