300519 RESULTS
MUTATIONS APOE 45409167 GRCh37/hg19 rs440446 C G Intron 1 Non-Coding Modified APOE transcription. c.-24+69C>G Alzheimer's Disease, Multiple Conditions This common intronic variant is strongly associated with Alzheimer’s disease (AD) risk, but the associatio
MUTATIONS APOE 45409579 GRCh37/hg19 rs769448 C T Intron 1 Non-Coding Unknown, but predicted to modify APOE transcription. c.-23-280C>T Blood Lipids/Lipoproteins This intronic variant has been associated with blood lipoprotein levels. In a large genome-wide assoc
MUTATIONS APOE 45410002 GRCh37/hg19 rs769449 G A Intron 2 Non-Coding Unknown, but may modify APOE transcription. c.43+78G>A Alzheimer's Disease, Multiple Conditions This common intronic variant is associated with increased risk for Alzheimer’s disease (AD)
MUTATIONS APOE 45410273 GRCh37/hg19 rs61357706 G A intron 2 Non-Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 6). c.43+349G>A Blood Lipids/Lipoproteins This intronic variant was identified in a study of 788 African Blacks and 623 non-Hispan
MUTATIONS APOE 45410444 GRCh37/hg19 rs769450 G A Intron 2 Non-Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 4). c.43+520G>A Alzheimer's Disease, Multiple Conditions This common intronic variant has been associated with Alzheimer’s dise
MUTATIONS APOE 45410548 GRCh37/hg19 rs115299243 A G Intron 2 Non-Coding Unknown, but predicted benign in silico (PHRED-scaled CADD = 6). c.44-469A>G Blood Lipids/Lipoproteins This intronic variant, mostly found in individuals of African ancestry, has been associ
MUTATIONS APOE 45411259 GRCh37/hg19 rs12982192 T C Intron 3 Non-Coding Modified APOE transcription. c.236+50T>C 20822524 Alzheimer's Disease This rare intronic variant was identified in a study of the role of APOE-I3, an APOE splice variant that retains int
MUTATIONS APOE 45411788 GRCh37/hg19 A G Intron 3 Non-Coding Disrupted splicing resulting in near abrogation of ApoE expression. c.237-1A>G Blood Lipids/Lipoproteins, Hyperlipoproteinemia Type III In homozygous form, this intronic variant results in nearly comple
MUTATIONS APOE 45408742 GRCh37/hg19 rs1038445539 A G promoter Non-Coding Unknown, but within a functional promoter domain. c.-380A>G Hyperlipoproteinemia Type IIb This variant, located in the APOE promoter, was identified in two unrelated French patients in a co
MUTATIONS APOE 45408843 GRCh37/hg19 G A 5' UTR Non-Coding Unknown, but within a functional promoter domain. c.-279G>A Hyperlipoproteinemia Type IIb This variant, located in the promoter region of the APOE gene, was identified in a French patient in a cohort
MUTATIONS APOE 45408889 GRCh37/hg19 G C 5' UTR Non-Coding Unknown, but within a functional promoter domain. c.-233G>C Hyperlipoproteinemia Type IIa This variant, located in the APOE promoter region, was identified in a French patient in a cohort of nearly 6
MUTATIONS APOE 45409017 GRCh37/hg19 A G 5' UTR Non-Coding Unknown, but within a functional promoter domain. c.-105A>G Hyperlipoproteinemia Type IIb This variant, located in the APOE promoter region, was identified in a French patient in a cohort of nearly 6
MUTATIONS APOE 45409041 GRCh37/hg19 rs766215051 G A 5' UTR Non-Coding Unknown, but within a functional promoter domain. c.-81G>A Hyperlipoproteinemia Type IIa This variant, located in the APOE promoter and in the 5’ untranslated region of APOE mRNA, was ide
MUTATIONS APOE 45409044 GRCh37/hg19 rs750782549 C G 5' UTR Non-Coding Unknown, but within a functional promoter domain. c.-78C>G Hyperlipoproteinemia Type IIa, Hyperlipoproteinemia Type IIb This variant, located in the APOE promoter and in the 5' untra
MUTATIONS APOE 45409935 GRCh37/hg19 rs770658351 G A Intron 2 Non-Coding Unknown, but its PHRED-scaled CADD score (13) did not reach the commonly used threshold of 20 for predicting deleteriousness. c.43+11G>A Hyperlipoproteinemia Type IIa This variant, located i
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