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