Tag

Autophagy

14 genetic variants with this tag.

RSID	Gene	Description	Category
rs11212617	ATM	Intronic variant near the ATM gene affecting metformin's activation of AMPK; ...	Longevity & Aging	Autophagy	Moderate
rs13361189	IRGM −4299T>C	Autophagy regulator affecting bacterial clearance in the gut and Crohn's dise...	IBD & Mucosal Immunity	Autophagy	Strong
rs117896735	INPP5F	Intronic variant in the INPP5F/BAG3 locus associated with increased risk of R...	Neurology & Cognition	Autophagy	Strong
rs2241879	ATG16L1	Intronic ATG16L1 variant in tight LD with the T300A coding variant; the G ris...	IBD & Mucosal Immunity	Autophagy	Strong
rs12752133	GBA	Intronic GBA variant associated with REM sleep behavior disorder via lysosoma...	Neurology & Cognition	Autophagy	Strong
rs2241880	ATG16L1 T300A	Autophagy gene variant affecting bacterial clearance in gut epithelial cells,...	IBD & Mucosal Immunity	Autophagy	Established
rs145999145	PLD3 V232M	Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolyso...	Neurology & Cognition	Autophagy	Moderate
rs2295080	MTOR	Promoter variant that reduces mTOR expression; the G allele lowers mTOR trans...	Longevity & Aging	Autophagy	Moderate
rs2536	MTOR	3'UTR variant that alters miR-150 binding affinity; the C allele increases mi...	Longevity & Aging	Autophagy	Moderate
rs725613	CLEC16A	Intronic variant in the autophagy regulator CLEC16A that alters thymic T-cell...	Autoimmune Tolerance & T-Cell Regulation	Autophagy	Strong
rs4958847	IRGM	Intronic IRGM variant that impairs autophagy-mediated clearance of intracellu...	IBD & Mucosal Immunity	Autophagy	Strong
rs34311866	TMEM175	Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regul...	Neurology & Cognition	Autophagy	Strong
rs76763715	GBA N409S	GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA path...	Neurology & Cognition	Autophagy	Established
rs7697073	SCARB2	Intronic SCARB2 variant associated with REM sleep behavior disorder risk via ...	Neurology & Cognition	Autophagy	Moderate