Tag

Alzheimer's

45 genetic variants with this tag.

RSID	Gene	Description	Category
rs121918393	APOE Christchurch (R136S)	Ultra-rare APOE3 missense variant that dramatically reduces HSPG binding and ...	Longevity & Aging	Alzheimer's	Strong
rs1080985	CYP2D6 *2A promoter	CYP2D6 promoter variant (-1584C>G) that reduces enzyme expression; the C alle...	Pharmacogenomics	Alzheimer's	Strong
rs17301739	LIPC	Intronic LIPC variant associated with circulating DHA and omega-3 fatty acid ...	Triglycerides & Fatty Acids	Alzheimer's	Strong
rs11136000	CLU	Intronic variant in clusterin gene affecting Alzheimer's disease risk through...	Neurology & Cognition	Alzheimer's	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	Alzheimer's	Strong
rs140926439	FN1	Rare missense variant in fibronectin 1 that reduces Alzheimer's disease risk ...	Longevity & Aging	Alzheimer's	Emerging
rs1524107	IL6	Intronic IL6 variant tagging a low-producing haplotype — the T allele is prot...	Longevity & Aging	Alzheimer's	Moderate
rs12053868	IL1RAP IL1RAP amyloid risk variant	Intronic variant in IL1RAP that impairs microglial activation, accelerating b...	Neurology & Cognition	Alzheimer's	Moderate
rs12459419	CD33 CD33 exon 2 splicing variant	Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ...	Neurology & Cognition	Alzheimer's	Strong
rs1937	TFAM S12T	Missense variant in the TFAM mitochondrial targeting sequence — the C allele ...	Longevity & Aging	Alzheimer's	Moderate
rs2069837	IL6	Intronic IL6 enhancer variant that regulates the anti-inflammatory gene GPNMB...	Longevity & Aging	Alzheimer's	Moderate
rs145999145	PLD3 V232M	Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolyso...	Neurology & Cognition	Alzheimer's	Moderate
rs1532278	CLU CLU Alzheimer's risk variant	Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls...	Neurology & Cognition	Alzheimer's	Strong
rs157582	TOMM40 TOMM40 memory variant	Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) a...	Neurology & Cognition	Alzheimer's	Strong
rs17070145	WWC1 Intronic C>T	Influences episodic memory performance and hippocampal function through the K...	Neurology & Cognition	Alzheimer's	Moderate
rs2070600	AGER Gly82Ser	Missense variant in the AGER pattern-recognition receptor that reduces solubl...	Hormones & Sleep	Alzheimer's	Strong
rs17649553	MAPT H1/H2 Haplotype Tag	Haplotype-tagging variant distinguishing MAPT H1 and H2 clades, affecting ris...	Neurology & Cognition	Alzheimer's	Strong
rs1784931	SORL1 SORL1 intron 39 variant	Intronic variant in the sortilin-related receptor that tags a 3′ haplotype bl...	Neurology & Cognition	Alzheimer's	Moderate
rs429358	APOE E4 determinant	Lipid metabolism and Alzheimer's risk - E4 carriers respond worse to high sat...	Cholesterol & Lipoproteins	Alzheimer's	Established
rs2275780	APH1A APH1A Promoter -21C/A	5' UTR variant in the APH1A gamma-secretase subunit gene, located 21 bp upstr...	Hormones & Sleep	Alzheimer's	Emerging
rs1800547	MAPT H1/H2 Haplotype Splice Regulator	Intronic MAPT variant that regulates tau exon 3 splicing via hnRNP F/Q bindin...	Neurology & Cognition	Alzheimer's	Strong
rs4900442	CYP46A1	Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele assoc...	Cholesterol & Lipoproteins	Alzheimer's	Moderate
rs193922916	APP A673V (Aβ A2V)	Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...	Neurology & Cognition	Alzheimer's	Strong
rs7412	APOE E2 determinant	APOE E2 variant - generally protective for cardiovascular health	Cholesterol & Lipoproteins	Alzheimer's	Established
rs34714364	APH1A APH1A gamma-secretase variant	Synonymous variant in CA14 near APH1A; T allele is associated with morning ch...	Hormones & Sleep	Alzheimer's	Moderate
rs2306402	CTNNA3	Intronic variant in the alpha-T-catenin gene associated with modestly increas...	Neurology & Cognition	Alzheimer's	Emerging
rs5882	CETP I405V	Missense variant that reduces CETP enzyme activity, raising HDL-C and enlargi...	Longevity & Aging	Alzheimer's	Moderate
rs3754048	APH1A -980C/G	Regulatory variant 2 kb upstream of APH1A where the C allele (paper's G, codi...	Hormones & Sleep	Alzheimer's	Moderate
rs9536314	KLOTHO F352V (KL-VS)	Longevity-associated variant exhibiting overdominance where heterozygotes sho...	Longevity & Aging	Alzheimer's	Strong
rs3851179	PICALM	Variant in the PICALM gene affecting amyloid-beta clearance across the blood-...	Neurology & Cognition	Alzheimer's	Established
rs3865444	CD33 CD33 microglial Alzheimer's variant	Promoter-region variant that modulates CD33 expression on microglia — the pro...	Neurology & Cognition	Alzheimer's	Strong
rs61761208	PSEN2 N141Y	Missense mutation replacing asparagine with tyrosine at position 141 of prese...	Neurology & Cognition	Alzheimer's	Strong
rs63749884	PSEN2 M239I	Pathogenic missense variant in PSEN2 (presenilin-2) causing autosomal dominan...	Neurology & Cognition	Alzheimer's	Strong
rs63749885	PSEN1 H163Y	Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p...	Neurology & Cognition	Alzheimer's	Established
rs63749891	PSEN1 R278I / R278T	Pathogenic PSEN1 missense variant at codon 278 that disrupts gamma-secretase ...	Neurology & Cognition	Alzheimer's	Established
rs63749911	PSEN1 F177L	Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine...	Neurology & Cognition	Alzheimer's	Strong
rs63750066	APP A713T (Calabrian)	Rare pathogenic missense variant in APP at the gamma-secretase cleavage site ...	Neurology & Cognition	Alzheimer's	Strong
rs63751122	APP L723P (Australian)	Rare pathogenic missense variant in APP near the gamma-secretase cleavage sit...	Neurology & Cognition	Alzheimer's	Strong
rs63751287	PSEN1 M233V	Pathogenic missense mutation in PSEN1 (presenilin-1) causing autosomal domina...	Neurology & Cognition	Alzheimer's	Established
rs638405	BACE1 BACE1 Exon 5 Synonymous Variant	Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Al...	Neurology & Cognition	Alzheimer's	Moderate
rs6656401	CR1 CR1 complement receptor Alzheimer's variant	Intronic variant in the complement receptor 1 gene; the minor A allele impair...	Neurology & Cognition	Alzheimer's	Strong
rs7101429	GAB2 GAB2 Alzheimer's risk modifier	Intronic variant in GAB2 that modulates late-onset Alzheimer's disease risk; ...	Neurology & Cognition	Alzheimer's	Moderate
rs744373	BIN1	Second strongest genetic risk factor for Alzheimer's disease after APOE, asso...	Neurology & Cognition	Alzheimer's	Established
rs75932628	TREM2 R47H	Rare missense variant in microglial receptor TREM2 that significantly increas...	Neurology & Cognition	Alzheimer's	Established
rs78117248	ABCA7 ABCA7 AD risk variant	Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl...	Neurology & Cognition	Alzheimer's	Strong