Tag

Amyloidosis

16 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	Amyloidosis	Strong
rs28940578	MEFV M694I	Exon 10 missense variant in the inflammasome regulator pyrin, converting meth...	TNF, NF-kB & Inflammatory Cytokines	Amyloidosis	Strong
rs28940579	MEFV V726A	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Amyloidosis	Strong
rs28940580	MEFV M680I	Exon 10 missense variant in the inflammasome regulator pyrin; one of five fou...	TNF, NF-kB & Inflammatory Cytokines	Amyloidosis	Strong
rs3743930	MEFV E148Q	Exon 2 missense variant in the inflammasome regulator pyrin; the most common ...	TNF, NF-kB & Inflammatory Cytokines	Amyloidosis	Moderate
rs61752717	MEFV M694V	The most common and clinically severe MEFV mutation, converting methionine to...	TNF, NF-kB & Inflammatory Cytokines	Amyloidosis	Established
rs2275780	APH1A APH1A Promoter -21C/A	5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstr...	Hormones & Sleep	Amyloidosis	Emerging
rs28933979	TTR Val30Met (V30M)	Most common pathogenic TTR variant causing hereditary transthyretin amyloidos...	Longevity & Aging	Amyloidosis	Established
rs193922916	APP A673V (Aβ A2V)	Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...	Neurology & Cognition	Amyloidosis	Strong
rs76992529	TTR Val142Ile (V142I)	Most common amyloidogenic TTR variant in African Americans, causing late-onse...	Cardiomyopathy & Structural Heart	Amyloidosis	Established
rs3754048	APH1A -980C/G	Regulatory variant 2 kb upstream of APH1A where the C allele (paper's G, codi...	Hormones & Sleep	Amyloidosis	Moderate
rs63749885	PSEN1 H163Y	Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p...	Neurology & Cognition	Amyloidosis	Established
rs63749891	PSEN1 R278I / R278T	Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ...	Neurology & Cognition	Amyloidosis	Established
rs63749911	PSEN1 F177L	Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine...	Neurology & Cognition	Amyloidosis	Strong
rs63750066	APP A713T (Calabrian)	Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ...	Neurology & Cognition	Amyloidosis	Strong
rs63751122	APP L723P (Australian)	Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit...	Neurology & Cognition	Amyloidosis	Strong