APOE c.*25C > T

MUTATIONS APOE 45412532 GRCh37/hg19 rs374329439 C T 3' UTR Non-Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 6). c.*25C > T Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type IIa, Hyperlipoproteinemia Type IIb This variant was identi

APOE c.*36C > G

MUTATIONS APOE 45412543 GRCh37/hg19 C G 3' UTR Non-Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 7). c.*36C > G Hyperlipoproteinemia Type IIa This variant, located in the 3’ untranslated region of APOE mRNA, was identified in a French

APOE L177P

MUTATIONS APOE 45412083 GRCh37/hg19 T C Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 24) with structual consequences. L177P Alzheimer's Disease This variant was identified in a 54-year-old South Korean man with early onset Alzhe

APOE R269H

MUTATIONS APOE 45412359 GRCh37/hg19 G A Exon 4 Coding Unknown, but predicted damaging in silico (PHRED-scaled CADD = 25). R269H Hyperlipoproteinemia Type IIa This variant was found in a Qatari individual diagnosed with familial hypercholesterolemia, also known as h

APOE V254E

MUTATIONS APOE 45412314 GRCh37/hg19 rs199768005 T A Exon 4 Coding Reduced ApoE self-oligomerization and promoted lipid metabolism in transgenic mouse brains. Also reported to increase dimerization. In AD mice, reduced plaques and dystrophic neurites. V254E Alzheime

APOE APOE Region

MUTATIONS APOE 42353608_47713504 GRCh37/hg19-- Non-Coding Coding Multiple effects. APOE Region Alzheimer's Disease, Multiple Conditions The APOE region or locus is a segment of DNA with several genes in close apposition, including APOE. Its boundaries are not

APOE c.-558A> T (rs449647)

MUTATIONS APOE 45408564 GRCh37/hg19 rs449647 A T promoter Non-Coding Unclear, but some studies reported effects on APOE transcription. c.-558A>T Alzheimer's Disease, Multiple Conditions This common polymorphism was identified in a search for regulators of A

APOE C130R (ApoE4)

MUTATIONS APOE 45411941 GRCh37/hg19 rs429358 T C Exon 4 Coding Strongest known risk factor for AD. Implicated in Aβ and tau pathologies, as well as in multiple other neuronal and non-neuronal functions. C130R Alzheimer's Disease, Multiple Conditions This varia

APOE R176C (ApoE2)

MUTATIONS APOE 45412079 GRCh37/hg19 rs7412 C T Exon 4 Coding Protective against AD risk. Effects on both Aβ (direct) and tau (possibly indirect) pathologies. Also implicated in multiple neuronal and non-neuronal functions. R176C Alzheimer's Disease, Multiple C