Tag

Endothelial Health

29 genetic variants with this tag.

RSID	Gene	Description	Category
rs1049255	CYBA CYBA 3'UTR A640G	3'UTR variant in the NADPH oxidase p22-phox subunit affecting superoxide gene...	Vascular Inflammation & Remodeling	Endothelial Health	Moderate
rs10958409	SOX17	Intergenic variant near SOX17 at 8q11 that reduces expression of this endothe...	Vascular Inflammation & Remodeling	Endothelial Health	Strong
rs11572325	CYP2J2	Intronic CYP2J2 variant associated with increased myocardial infarction risk ...	Vascular Inflammation & Remodeling	Endothelial Health	Moderate
rs2911463	PIEZO1	Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s...	Arrhythmia & Heart Rhythm	Endothelial Health	Strong
rs28673647	ADAMTS13	Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con...	Von Willebrand & Anticoagulant Proteins	Endothelial Health	Strong
rs3918226	NOS3	NOS3 promoter variant that reduces eNOS expression and increases hypertension...	Blood Pressure & Hypertension	Endothelial Health	Strong
rs2231137	ABCG2 ABCG2 V12M (Val12Met)	Missense variant in the ABCG2 transporter that impairs membrane localization ...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Moderate
rs482843	CTH	Intronic CTH variant where GG homozygotes show significantly elevated preecla...	Blood Pressure & Hypertension	Endothelial Health	Moderate
rs4961	ADD1 Gly460Trp	Alpha-adducin missense variant that increases renal tubular sodium reabsorpti...	Blood Pressure & Hypertension	Endothelial Health	Strong
rs30021	SNX24 VEGFA Vascular Growth Co-variant	Intronic variant in SNX24 (sorting nexin 24) with roles in vascular endotheli...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Emerging
rs200330818	GDF2	Rare missense variant in BMP9/GDF2 that impairs processing of the mature BMP9...	Vascular Inflammation & Remodeling	Endothelial Health	Moderate
rs340875	PROX1	Intronic variant in PROX1, the master transcription factor for lymphatic endo...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Moderate
rs5335	EDNRA	3' UTR variant in the endothelin receptor type A gene associated with ambulat...	Blood Pressure & Hypertension	Endothelial Health	Moderate
rs6841581	EDNRA	Regulatory variant upstream of the endothelin receptor type A gene that reduc...	Blood Pressure & Hypertension	Endothelial Health	Strong
rs4888378	CFDP1	Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Strong
rs841	GCH1	Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes...	Blood Pressure & Hypertension	Endothelial Health	Moderate
rs501120	CXCL12	Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Strong
rs4729189	PON2	Intronic PON2 variant associated with variation in serum paraoxonase activity...	Vascular Inflammation & Remodeling	Endothelial Health	Emerging
rs867186	PROCR S219G	Missense variant in the endothelial protein C receptor gene that increases EP...	Von Willebrand & Anticoagulant Proteins	Endothelial Health	Strong
rs7030781	VEGFA VEGFA Regulatory Co-variant	Chromosome 9 regulatory co-variant near a lncRNA locus that co-segregates wit...	Vascular Inflammation & Remodeling	Endothelial Health	Emerging
rs2280275	CYP2J2	Intronic variant in CYP2J2 that tags reduced epoxyeicosatrienoic acid (EET) p...	Pharmacogenomics	Endothelial Health	Moderate
rs4855559	MYH15	Intronic variant in the myosin heavy chain 15 gene associated with impaired c...	Cardiomyopathy & Structural Heart	Endothelial Health	Emerging
rs1808593	NOS3	Intronic NOS3 variant associated with ankle-brachial index and peripheral art...	Methylation & Detox	Endothelial Health	Moderate
rs74315329	MYOC Gln368Ter (Q368X)	Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile a...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Established
rs767603	LOC105378189	Regulatory variant near LOC105378189 non-coding RNA locus on chromosome 14q23...	Coronary Artery Disease & Atherosclerosis	Endothelial Health	Moderate
rs9298506	SOX17	Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intra...	Vascular Inflammation & Remodeling	Endothelial Health	Strong
rs891512	NOS3	Intronic NOS3 variant that alters splicing factor binding and is associated w...	Methylation & Detox	Endothelial Health	Moderate
rs67338227	FHL5	Intronic variant in FHL5 (four and a half LIM domains 5), a transcriptional c...	Neurology & Cognition	Endothelial Health	Strong
rs9349379	PHACTR1	Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arteria...	Neurology & Cognition	Endothelial Health	Strong