Tag

Connective Tissue

9 genetic variants with this tag.

RSID	Gene	Description	Category
rs2004640	IRF5 G198T	Intronic variant creating alternative splice site that increases type I inter...	Immune & Gut	Immune & Autoimmune Inflammation Interferon	Strong
rs1516797	ACAN	Intronic variant affecting aggrecan expression and cartilage integrity, assoc...	Fitness & Body	Injury Risk Cartilage Joints	Moderate
rs35318931	SRPX Ser413Phe	X-linked extracellular matrix variant affecting skin connective tissue integr...	Skin & Eyes	Skin & Eyes Connective Tissue Extracellular Matrix	Moderate
rs3025058	MMP3 5A/6A	Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...	Fitness & Body	Bone & Joint Inflammation Cardiovascular	Strong
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Connective Tissue Extracellular Matrix Inflammation	Moderate
rs10488631	IRF5	Near-gene regulatory variant tagging an IRF5 haplotype that elevates interfer...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs729302	IRF5	Near-gene variant tagging an IRF5 protective haplotype in the 5' promoter reg...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong
rs3131379	MSH5	Intronic variant in the HLA class III region near MSH5 associated with lupus ...	Immune & Gut	Immune & Autoimmune Lupus Interferon	Strong
rs4728142	IRF5 Promoter Indel Tag (CGGGG insertion)	Enhancer variant ~5 kb upstream of IRF5 that promotes ZBTB3-mediated chromati...	Immune & Gut	Immune & Autoimmune Interferon Lupus	Strong