Tag
Endothelial Health
18 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs10958409 | SOX17 | Intergenic variant near SOX17 at 8q11 that reduces expression of this endothe... | Vascular Inflammation & Remodeling | Strong | |
| rs2911463 | PIEZO1 | Intronic variant in PIEZO1, the endothelial mechanosensory ion channel that s... | Arrhythmia & Heart Rhythm | Strong | |
| rs28673647 | ADAMTS13 | Intronic ADAMTS13 variant modulating plasma ADAMTS13 levels; the G allele con... | Von Willebrand & Anticoagulant Proteins | Strong | |
| rs2231137 | ABCG2 ABCG2 V12M (Val12Met) | Missense variant in the ABCG2 transporter that impairs membrane localization ... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs3918226 | NOS3 | NOS3 promoter variant that reduces eNOS expression and increases hypertension... | Blood Pressure & Hypertension | Strong | |
| rs482843 | CTH | Intronic CTH variant where GG homozygotes show significantly elevated preecla... | Blood Pressure & Hypertension | Moderate | |
| rs4961 | ADD1 Gly460Trp | Alpha-adducin missense variant that increases renal tubular sodium reabsorpti... | Blood Pressure & Hypertension | Strong | |
| rs4855559 | MYH15 | Intronic variant in the myosin heavy chain 15 gene associated with impaired c... | Cardiomyopathy & Structural Heart | Emerging | |
| rs4888378 | CFDP1 | Intronic CFDP1 locus variant that regulates BCAR1 expression in vascular tiss... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs9298506 | SOX17 | Regulatory tag variant near SOX17 at chromosome 8q11.23 associated with intra... | Vascular Inflammation & Remodeling | Strong | |
| rs501120 | CXCL12 | Regulatory variant ~80 kb downstream of CXCL12 (SDF-1) associated with elevat... | Coronary Artery Disease & Atherosclerosis | Strong | |
| rs841 | GCH1 | Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthes... | Blood Pressure & Hypertension | Moderate | |
| rs867186 | PROCR S219G | Missense variant in the endothelial protein C receptor gene that increases EP... | Von Willebrand & Anticoagulant Proteins | Strong | |
| rs1808593 | NOS3 | Intronic NOS3 variant associated with ankle-brachial index and peripheral art... | Methylation & Detox | Moderate | |
| rs74315329 | MYOC Gln368Ter (Q368X) | Pathogenic nonsense variant in myocilin causing autosomal dominant juvenile a... | Coronary Artery Disease & Atherosclerosis | Established | |
| rs2280275 | CYP2J2 | Intronic variant in CYP2J2 | Pharmacogenomics | Moderate | |
| rs891512 | NOS3 | Intronic NOS3 variant that alters splicing factor binding and is associated w... | Methylation & Detox | Moderate | |
| rs9349379 | PHACTR1 | Intronic regulatory variant in PHACTR1 that controls endothelin-1 and arteria... | Neurology & Cognition | Strong |