Tag

Dementia

21 genetic variants with this tag.

RSID	Gene	Description	Category
rs137852641	NOTCH3	Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...	Vascular Inflammation & Remodeling	Dementia	Established
rs12053868	IL1RAP IL1RAP amyloid risk variant	Intronic variant in IL1RAP that impairs microglial activation, accelerating b...	Neurology & Cognition	Dementia	Moderate
rs145999145	PLD3 V232M	Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolyso...	Neurology & Cognition	Dementia	Moderate
rs17649553	MAPT H1/H2 Haplotype Tag	Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting ris...	Neurology & Cognition	Dementia	Strong
rs17651213	MAPT Exon 3 Splice Regulator	Intronic MAPT variant that directly regulates tau exon 3 splicing via differe...	Neurology & Cognition	Dementia	Strong
rs1784931	SORL1 SORL1 intron 39 variant	Intronic variant in the sortilin-related receptor that tags a 3′ haplotype bl...	Neurology & Cognition	Dementia	Moderate
rs1800547	MAPT H1/H2 Haplotype Splice Regulator	Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q bindin...	Neurology & Cognition	Dementia	Strong
rs2306402	CTNNA3	Intronic variant in the alpha-T-catenin gene associated with modestly increas...	Neurology & Cognition	Dementia	Emerging
rs242557	MAPT H1c Sub-haplotype Tag	Intronic MAPT variant tagging the H1c sub-haplotype within the H1 clade, inde...	Neurology & Cognition	Dementia	Strong
rs2471738	MAPT H1c Sub-haplotype Tag (rs2471738)	Intronic MAPT variant whose T allele co-defines the H1c sub-haplotype, indepe...	Neurology & Cognition	Dementia	Strong
rs3785883	MAPT H1h Sub-haplotype Tag	Intronic MAPT variant whose A allele defines the H1h sub-haplotype — a config...	Neurology & Cognition	Dementia	Moderate
rs61761208	PSEN2 N141Y	Missense mutation replacing asparagine with tyrosine at position 141 of prese...	Neurology & Cognition	Dementia	Strong
rs63749884	PSEN2 M239I	Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominan...	Neurology & Cognition	Dementia	Strong
rs63749885	PSEN1 H163Y	Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p...	Neurology & Cognition	Dementia	Established
rs63749891	PSEN1 R278I / R278T	Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ...	Neurology & Cognition	Dementia	Established
rs63749911	PSEN1 F177L	Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine...	Neurology & Cognition	Dementia	Strong
rs63751122	APP L723P (Australian)	Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit...	Neurology & Cognition	Dementia	Strong
rs63751287	PSEN1 M233V	Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal domina...	Neurology & Cognition	Dementia	Established
rs638405	BACE1 BACE1 Exon 5 Synonymous Variant	Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Al...	Neurology & Cognition	Dementia	Moderate
rs76763715	GBA N409S	GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA path...	Neurology & Cognition	Dementia	Established
rs78117248	ABCA7 ABCA7 AD risk variant	Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl...	Neurology & Cognition	Dementia	Strong