Tag
Fibrosis
8 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 | Established | |
| rs2303729 | LTBP4 | Missense variant in LTBP4 encoding Val194Ile; the A allele (Ile) forms the IA... | Gamete Quality & DNA Repair | Strong | |
| rs111517471 | PKP2 | Splice donor variant in plakophilin-2 that disrupts mRNA splicing at an exon–... | Cardiomyopathy & Structural Heart | Strong | |
| rs17228212 | SMAD3 | Intronic variant in the TGF-beta signaling gene SMAD3 associated with vascula... | Coronary Artery Disease & Atherosclerosis | Moderate | |
| rs267606908 | MYH7 D906G | Pathogenic beta-myosin heavy chain missense variant causing a hypercontractil... | Cardiomyopathy & Structural Heart | Established | |
| rs371898076 | MYH7 Arg663His (R663H) | Pathogenic missense variant in the myosin motor domain causing hypertrophic c... | Cardiomyopathy & Structural Heart | Strong | |
| rs74315379 | TNNT2 R141W / R151W | Rare pathogenic missense variant in cardiac troponin T causing calcium desens... | Cardiomyopathy & Structural Heart | Established | |
| rs56062135 | SMAD3 SMAD3 intronic variant | Intronic SMAD3 variant tagging the CAD-protective haplotype where the T allel... | Coronary Artery Disease & Atherosclerosis | Strong |