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rs137852641
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NOTCH3
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Pathogenic NOTCH3 missense variant p.Arg332Cys that alters the cysteine count...
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Vascular Inflammation & Remodeling
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Established
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rs113809142
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ABCA7
ABCA7 splice donor variant (c.4416+2T>G)
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Rare splice donor variant in ABCA7 that disrupts mRNA processing, causing hap...
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Neurology & Cognition
|
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Strong
|
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rs11931074
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SNCA
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SNCA 3′-region variant in the extended 3′ UTR that affects alpha-synuclein mR...
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Neurology & Cognition
|
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Strong
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|
rs12053868
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IL1RAP
IL1RAP amyloid risk variant
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Intronic variant in IL1RAP that impairs microglial activation, accelerating b...
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Neurology & Cognition
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Moderate
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rs12459419
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CD33
CD33 exon 2 splicing variant
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Coding variant in CD33 (Siglec-3) that alters exon 2 splicing in microglia — ...
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Neurology & Cognition
|
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Strong
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rs145999145
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PLD3
V232M
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Rare missense variant in the lysosomal exonuclease PLD3 that impairs endolyso...
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Neurology & Cognition
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Moderate
|
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rs1532278
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CLU
CLU Alzheimer's risk variant
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Intronic regulatory variant in CLU (clusterin/apolipoprotein J) that controls...
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Neurology & Cognition
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Strong
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|
rs157582
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TOMM40
TOMM40 memory variant
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Intronic variant in TOMM40 (translocase of outer mitochondrial membrane 40) a...
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Neurology & Cognition
|
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Strong
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|
rs4900442
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CYP46A1
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Intronic variant in the brain cholesterol 24-hydroxylase gene; C allele assoc...
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Cholesterol & Lipoproteins
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Moderate
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rs193922916
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APP
A673V (Aβ A2V)
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Recessive pathogenic APP missense variant causing early-onset Alzheimer's dis...
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Neurology & Cognition
|
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Strong
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|
rs2306402
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CTNNA3
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Intronic variant in the alpha-T-catenin gene associated with modestly increas...
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Neurology & Cognition
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Emerging
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|
rs2583988
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SNCA
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SNCA upstream regulatory variant (near gene-5) that is part of the 4-SNP SNCA...
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Neurology & Cognition
|
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Emerging
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|
rs2736990
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SNCA
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Intronic SNCA variant (intron 4) associated with Parkinson's disease risk and...
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Neurology & Cognition
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Strong
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rs34311866
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TMEM175
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Lysosomal K+/H+ channel variant (p.Met393Thr) that impairs lysosomal pH regul...
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Neurology & Cognition
|
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Strong
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rs356219
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SNCA
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SNCA 3′-region regulatory variant that upregulates alpha-synuclein expression...
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Neurology & Cognition
|
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Strong
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|
rs3865444
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CD33
CD33 microglial Alzheimer's variant
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Promoter-region variant that modulates CD33 expression on microglia — the pro...
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Neurology & Cognition
|
|
Strong
|
|
rs61761208
|
PSEN2
N141Y
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Missense mutation replacing asparagine with tyrosine at position 141 of prese...
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Neurology & Cognition
|
|
Strong
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|
rs63749885
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PSEN1
H163Y
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Pathogenic PSEN1 missense mutation (His163Tyr) that impairs gamma-secretase p...
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Neurology & Cognition
|
|
Established
|
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rs63749911
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PSEN1
F177L
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Rare pathogenic PSEN1 missense variant substituting leucine for phenylalanine...
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Neurology & Cognition
|
|
Strong
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|
rs638405
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BACE1
BACE1 Exon 5 Synonymous Variant
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Synonymous variant in BACE1 (beta-secretase 1) linked to modestly elevated Al...
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Neurology & Cognition
|
|
Moderate
|
|
rs6439886
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CLSTN2
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Intronic variant in the calsyntenin-2 gene associated with episodic memory pe...
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Neurology & Cognition
|
|
Moderate
|
|
rs6656401
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CR1
CR1 complement receptor Alzheimer's variant
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Intronic variant in the complement receptor 1 gene; the minor A allele impair...
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Neurology & Cognition
|
|
Strong
|
|
rs7101429
|
GAB2
GAB2 Alzheimer's risk modifier
|
Intronic variant in GAB2 that modulates late-onset Alzheimer's disease risk; ...
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Neurology & Cognition
|
|
Moderate
|
|
rs744373
|
BIN1
|
Second strongest genetic risk factor for Alzheimer's disease after APOE, asso...
|
Neurology & Cognition
|
|
Established
|
|
rs78117248
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ABCA7
ABCA7 AD risk variant
|
Intronic ABCA7 variant tagging an expanded VNTR that disrupts amyloid-beta cl...
|
Neurology & Cognition
|
|
Strong
|