Tag

Neurodegeneration

40 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	Neurodegeneration	Strong
rs137852641	NOTCH3	Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...	Vascular Inflammation & Remodeling	Neurodegeneration	Established
rs113809142	ABCA7 ABCA7 splice donor variant (c.4416+2T>G)	Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing hap...	Neurology & Cognition	Neurodegeneration	Strong
rs140926439	FN1	Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk ...	Longevity & Aging	Neurodegeneration	Emerging
rs117896735	INPP5F	Intronic variant in the INPP5F/BAG3 locus associated with increased risk of R...	Neurology & Cognition	Neurodegeneration	Strong
rs33912345	SIX6 Asn141His	Affects optic nerve development and retinal ganglion cell survival, strongly ...	Skin & Eyes	Neurodegeneration	Strong
rs12459419	CD33 CD33 exon 2 splicing variant	Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ...	Neurology & Cognition	Neurodegeneration	Strong
rs1937	TFAM S12T	Missense variant in the TFAM mitochondrial targeting sequence — the C allele ...	Longevity & Aging	Neurodegeneration	Moderate
rs12752133	GBA	Intronic GBA variant associated with REM sleep behavior disorder via lysosoma...	Neurology & Cognition	Neurodegeneration	Strong
rs267606898	MT-ND5	Heteroplasmic missense variant in the mitochondrially encoded ND5 subunit of ...	Metabolic Enzymes & Rare Disorders	Neurodegeneration	Strong
rs55687265	ATP8B4 ATP8B4 Phospholipid Flippase F436L	Missense variant in ATP8B4 converting phenylalanine to leucine at position 43...	B-Cell Immunity & Antibody-Mediated Disease	Neurodegeneration	Moderate
rs145999145	PLD3 V232M	Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolyso...	Neurology & Cognition	Neurodegeneration	Moderate
rs1532278	CLU CLU Alzheimer's risk variant	Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls...	Neurology & Cognition	Neurodegeneration	Strong
rs157582	TOMM40 TOMM40 memory variant	Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) a...	Neurology & Cognition	Neurodegeneration	Strong
rs397514538	SLC52A2	Pathogenic missense variant in riboflavin transporter RFVT2 (p.Leu123Pro) cau...	Vitamins & Nutrient Absorption	Neurodegeneration	Established
rs1784931	SORL1 SORL1 intron 39 variant	Intronic variant in the sortilin-related receptor that tags a 3′ haplotype bl...	Neurology & Cognition	Neurodegeneration	Moderate
rs2275780	APH1A APH1A Promoter -21C/A	5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstr...	Hormones & Sleep	Neurodegeneration	Emerging
rs4900442	CYP46A1	Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele assoc...	Cholesterol & Lipoproteins	Neurodegeneration	Moderate
rs28933979	TTR Val30Met (V30M)	Most common pathogenic TTR variant causing hereditary transthyretin amyloidos...	Longevity & Aging	Neurodegeneration	Established
rs193922916	APP A673V (Aβ A2V)	Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...	Neurology & Cognition	Neurodegeneration	Strong
rs34714364	APH1A APH1A gamma-secretase variant	Synonymous variant in CA14 near APH1A; T allele is associated with morning ch...	Hormones & Sleep	Neurodegeneration	Moderate
rs2306402	CTNNA3	Intronic variant in the alpha-T-catenin gene associated with modestly increas...	Neurology & Cognition	Neurodegeneration	Emerging
rs3754048	APH1A -980C/G	Regulatory variant 2 kb upstream of APH1A where the C allele (paper's G, codi...	Hormones & Sleep	Neurodegeneration	Moderate
rs7137828	ATXN2	Intronic ATXN2 variant associated with primary open-angle glaucoma risk; T al...	Longevity & Aging	Neurodegeneration	Strong
rs34311866	TMEM175	Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regul...	Neurology & Cognition	Neurodegeneration	Strong
rs3756059	SNCA	Intronic SNCA variant at the 5′ locus associated with REM sleep behavior diso...	Neurology & Cognition	Neurodegeneration	Strong
rs3865444	CD33 CD33 microglial Alzheimer's variant	Promoter-region variant that modulates CD33 expression on microglia — the pro...	Neurology & Cognition	Neurodegeneration	Strong
rs61761208	PSEN2 N141Y	Missense mutation replacing asparagine with tyrosine at position 141 of prese...	Neurology & Cognition	Neurodegeneration	Strong
rs63749884	PSEN2 M239I	Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominan...	Neurology & Cognition	Neurodegeneration	Strong
rs63749885	PSEN1 H163Y	Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p...	Neurology & Cognition	Neurodegeneration	Established
rs63749891	PSEN1 R278I / R278T	Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ...	Neurology & Cognition	Neurodegeneration	Established
rs63749911	PSEN1 F177L	Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine...	Neurology & Cognition	Neurodegeneration	Strong
rs63750066	APP A713T (Calabrian)	Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ...	Neurology & Cognition	Neurodegeneration	Strong
rs63751122	APP L723P (Australian)	Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit...	Neurology & Cognition	Neurodegeneration	Strong
rs63751287	PSEN1 M233V	Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal domina...	Neurology & Cognition	Neurodegeneration	Established
rs638405	BACE1 BACE1 Exon 5 Synonymous Variant	Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Al...	Neurology & Cognition	Neurodegeneration	Moderate
rs7101429	GAB2 GAB2 Alzheimer's risk modifier	Intronic variant in GAB2 that modulates late-onset Alzheimer's disease risk; ...	Neurology & Cognition	Neurodegeneration	Moderate
rs76763715	GBA N409S	GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA path...	Neurology & Cognition	Neurodegeneration	Established
rs7697073	SCARB2	Intronic SCARB2 variant associated with REM sleep behavior disorder risk via ...	Neurology & Cognition	Neurodegeneration	Moderate
rs78117248	ABCA7 ABCA7 AD risk variant	Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl...	Neurology & Cognition	Neurodegeneration	Strong