Tag

Fibrosis

23 genetic variants with this tag.

RSID	Gene	Description	Category
rs104894502	TPM1 E180G	Rare pathogenic missense variant in cardiac alpha-tropomyosin causing familia...	Cardiomyopathy & Structural Heart	Fibrosis	Established
rs1060502576	BMPR2	Rare stop-gain variant in BMPR2 (p.Trp466Ter) that truncates the kinase domai...	Vascular Inflammation & Remodeling	Fibrosis	Established
rs1060502581	BMPR2	Nonsense variant in BMPR2 introducing a premature stop codon (p.Arg321Ter) th...	Vascular Inflammation & Remodeling	Fibrosis	Established
rs11959928	DAB2	Intronic regulatory variant that increases DAB2 expression in kidney tubules,...	Cholesterol & Lipoproteins	Fibrosis	Strong
rs1057518309	DSP Arg451Gly	Rare pathogenic missense variant in desmoplakin that enhances calpain-mediate...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs111517471	PKP2	Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs11570112	MYBPC3 Gln998X	Pathogenic truncating variant in cardiac myosin-binding protein C causing hap...	Cardiomyopathy & Structural Heart	Fibrosis	Established
rs2303729	LTBP4	Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IA...	Gamete Quality & DNA Repair	Fibrosis	Strong
rs17228212	SMAD3	Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula...	Coronary Artery Disease & Atherosclerosis	Fibrosis	Moderate
rs1800471	TGFB1 R25P (Arg25Pro)	Signal-peptide missense variant altering TGF-β1 secretion levels, associated ...	Vascular Inflammation & Remodeling	Fibrosis	Moderate
rs2034650	IVD	Intronic regulatory variant in IVD (isovaleryl-CoA dehydrogenase) associated ...	Metabolic Enzymes & Rare Disorders	Fibrosis	Emerging
rs267606908	MYH7 D906G	Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil...	Cardiomyopathy & Structural Heart	Fibrosis	Established
rs371898076	MYH7 Arg663His (R663H)	Pathogenic missense variant in the myosin motor domain causing hypertrophic c...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs397516127	MYH7 Arg663Cys (R663C)	Pathogenic missense variant in the beta-myosin heavy chain motor domain causi...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs397516919	DSP DSP Trp550Ter	Nonsense variant in desmoplakin that truncates the protein at codon 550, caus...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs66791338	IVD 5-bp IVD regulatory region indel	Intronic 5-bp indel (AAAGG) in the IVD regulatory region that is the primary ...	Metabolic Enzymes & Rare Disorders	Fibrosis	Moderate
rs397516923	DSP DSP Q72Ter	Rare truncating variant in desmoplakin that creates a premature stop codon at...	Cardiomyopathy & Structural Heart	Fibrosis	Moderate
rs56062135	SMAD3 SMAD3 intronic variant	Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel...	Coronary Artery Disease & Atherosclerosis	Fibrosis	Strong
rs397516929	DSP Ser987Pro	Rare missense variant in desmoplakin that likely disrupts desmosomal integrit...	Cardiomyopathy & Structural Heart	Fibrosis	Emerging
rs397516933	DSP DSP Gln1277Ter	Nonsense variant in desmoplakin that truncates the protein at codon 1277, cau...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs397516943	DSP	Pathogenic DSP nonsense variant creating a premature stop codon at position 1...	Cardiomyopathy & Structural Heart	Fibrosis	Established
rs397516946	DSP DSP Q1810X	Pathogenic stop-gain in desmoplakin's tail domain; one copy truncates the pro...	Cardiomyopathy & Structural Heart	Fibrosis	Strong
rs74315379	TNNT2 R141W / R151W	Rare pathogenic missense variant in cardiac troponin T causing calcium desens...	Cardiomyopathy & Structural Heart	Fibrosis	Established