Tag
Cognitive Decline
25 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 | 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 | |
| rs11931074 | SNCA | SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mR... | Neurology & Cognition | Strong | |
| 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 | |
| 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 | |
| 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 | |
| rs2306402 | CTNNA3 | Intronic variant in the alpha-T-catenin gene associated with modestly increas... | Neurology & Cognition | Emerging | |
| rs2583988 | SNCA | SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA... | Neurology & Cognition | Emerging | |
| rs2736990 | SNCA | Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and... | Neurology & Cognition | Strong | |
| rs34311866 | TMEM175 | Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regul... | Neurology & Cognition | Strong | |
| rs356219 | SNCA | SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression... | Neurology & Cognition | Strong | |
| 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 | |
| rs63749885 | PSEN1 H163Y | Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p... | Neurology & Cognition | Established | |
| rs63749911 | PSEN1 F177L | Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine... | Neurology & Cognition | Strong | |
| rs638405 | BACE1 BACE1 Exon 5 Synonymous Variant | Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Al... | Neurology & Cognition | Moderate | |
| rs6439886 | CLSTN2 | Intronic variant in the calsyntenin-2 gene associated with episodic memory pe... | 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 | |
| rs78117248 | ABCA7 ABCA7 AD risk variant | Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl... | Neurology & Cognition | Strong |