Tag

Extracellular Matrix

16 genetic variants with this tag.

RSID	Gene	Description	Category
rs1036477	FBN1	Deep intronic FBN1 variant associated with larger ascending aortic dimensions...	Cardiomyopathy & Structural Heart	Extracellular Matrix	Strong
rs1250248	FN1	Intronic variant in the fibronectin 1 gene associated with increased suscepti...	Endometriosis & Uterine Health	Extracellular Matrix	Strong
rs10519177	FBN1	Intronic FBN1 variant that requires two copies of the G allele to impair fibr...	Cardiomyopathy & Structural Heart	Extracellular Matrix	Emerging
rs140597	FBN1 D1113G	Pathogenic missense variant in fibrillin-1 replacing the calcium-coordinating...	Cardiomyopathy & Structural Heart	Extracellular Matrix	Strong
rs140926439	FN1	Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk ...	Longevity & Aging	Extracellular Matrix	Emerging
rs17576	MMP9 MMP9 Q279R	Missense variant in the MMP9 fibronectin type II domain affecting matrix meta...	Coronary Artery Disease & Atherosclerosis	Extracellular Matrix	Moderate
rs193922239	FBN1	Pathogenic missense variant in fibrillin-1 replacing glycine 2627 with argini...	Cardiomyopathy & Structural Heart	Extracellular Matrix	Strong
rs35318931	SRPX Ser413Phe	X-linked extracellular matrix variant affecting skin connective tissue integr...	Skin & Eyes	Extracellular Matrix	Moderate
rs2118181	FBN1	Intronic FBN1 variant associated with elevated thoracic aortic dissection ris...	Cardiomyopathy & Structural Heart	Extracellular Matrix	Emerging
rs4762326	VEZT VEZT Endometriosis Cell Adhesion Variant	Intronic variant in VEZT (vezatin, adherens junction transmembrane protein) o...	Endometriosis & Uterine Health	Extracellular Matrix	Strong
rs3825942	LOXL1 G153D (Gly153Asp)	Missense variant in the elastin-crosslinking enzyme LOXL1; the common G allel...	Coronary Artery Disease & Atherosclerosis	Extracellular Matrix	Strong
rs2104772	TNC	Affects tenascin C protein levels and elasticity, influencing tendon injury r...	Fitness & Body	Extracellular Matrix	Strong
rs3918242	MMP9 MMP9 C-1562T	Promoter variant that disrupts an SP1 transcription factor binding site, incr...	Coronary Artery Disease & Atherosclerosis	Extracellular Matrix	Strong
rs243865	MMP2 C-1306T	Promoter polymorphism that disrupts an Sp1-binding site and reduces MMP-2 enz...	Fitness & Body	Extracellular Matrix	Moderate
rs3025058	MMP3 5A/6A	Promoter polymorphism affecting MMP3 enzyme expression levels, influencing ca...	Fitness & Body	Extracellular Matrix	Strong
rs753085	COL27A1	Intronic variant in COL27A1 (collagen type XXVII alpha-1) associated with alt...	Coronary Artery Disease & Atherosclerosis	Extracellular Matrix	Moderate