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