Tag
Amyloidosis
11 genetic variants with this tag.
| RSID | Gene | Description | Category | ||
|---|---|---|---|---|---|
| rs104894664 | TTR Ala45Thr (A25T) | Rare pathogenic TTR missense variant causing hereditary transthyretin amyloid... | Cardiomyopathy & Structural Heart | Strong | |
| rs28940578 | MEFV M694I | Exon 10 missense variant in the inflammasome regulator pyrin, converting meth... | TNF, NF-kB & Inflammatory Cytokines | Strong | |
| rs2275780 | APH1A APH1A Promoter -21C/A | 5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstr... | Hormones & Sleep | Emerging | |
| rs61752717 | MEFV M694V | The most common and clinically severe MEFV mutation, converting methionine to... | TNF, NF-kB & Inflammatory Cytokines | Established | |
| rs76992529 | TTR Val142Ile (V142I) | Most common amyloidogenic TTR variant in African Americans, causing late-onse... | Cardiomyopathy & Structural Heart | Established | |
| rs193922916 | APP A673V (Aβ A2V) | Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis... | Neurology & Cognition | Strong | |
| rs63749885 | PSEN1 H163Y | Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p... | Neurology & Cognition | Established | |
| rs63749891 | PSEN1 R278I / R278T | Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ... | Neurology & Cognition | Established | |
| rs63749911 | PSEN1 F177L | Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine... | Neurology & Cognition | Strong | |
| rs63750066 | APP A713T (Calabrian) | Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ... | Neurology & Cognition | Strong | |
| rs63751122 | APP L723P (Australian) | Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit... | Neurology & Cognition | Strong |