chr19:45411941:> Detail (hg19) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,411,941-45,411,941
hg38 chr19:44,908,684-44,908,684 

HGVS

Type Transcript Protein
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

[No Data.]

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1981-09-10 no assertion criteria provided APOE3 ISOFORM germline Detail
protective 2019-11-25 no assertion criteria provided Alzheimer disease 3, protection against, due to APOE3-Christchurch germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000041.4(APOE):c.[388=;526=] AND APOE3 ISOFORM ClinVar Detail
NM_000041.4:c.[388=;460C>A526=] AND Alzheimer disease 3, protection against, due to APOE3-Christchur... ClinVar Detail
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. GWAS Catalog Detail
SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline... GWAS Catalog Detail
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. GWAS Catalog Detail
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. GWAS Catalog Detail
Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease. GWAS Catalog Detail
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. GWAS Catalog Detail
Connecting genetic risk to disease end points through the human blood plasma proteome. GWAS Catalog Detail
Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide associa... GWAS Catalog Detail
Genome-wide meta-analysis associates HLA-DQA1/DRB1 and LPA and lifestyle factors with human longevit... GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human... GWAS Catalog Detail
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human... GWAS Catalog Detail
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human... GWAS Catalog Detail
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human... GWAS Catalog Detail
Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan. GWAS Catalog Detail
Genetic heterogeneity of Alzheimer's disease in subjects with and without hypertension. GWAS Catalog Detail
Genetic heterogeneity of Alzheimer's disease in subjects with and without hypertension. GWAS Catalog Detail
Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. GWAS Catalog Detail
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide associatio... GWAS Catalog Detail
Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants ... GWAS Catalog Detail
Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants ... GWAS Catalog Detail
Genetic architecture of age-related cognitive decline in African Americans. GWAS Catalog Detail
Sex differences in the genetic predictors of Alzheimer's pathology. GWAS Catalog Detail
Sex differences in the genetic predictors of Alzheimer's pathology. GWAS Catalog Detail
Sex differences in the genetic predictors of Alzheimer's pathology. GWAS Catalog Detail
Sex differences in the genetic predictors of Alzheimer's pathology. GWAS Catalog Detail
Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of... GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association study of Alzheimer's disease endophenotypes at prediagnosis stages. GWAS Catalog Detail
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci assoc... GWAS Catalog Detail
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci assoc... GWAS Catalog Detail
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci assoc... GWAS Catalog Detail
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci assoc... GWAS Catalog Detail
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci assoc... GWAS Catalog Detail
Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci assoc... GWAS Catalog Detail
GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide associatio... GWAS Catalog Detail
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. GWAS Catalog Detail
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. GWAS Catalog Detail
Genome-wide analysis of genetic predisposition to Alzheimer's disease and related sex disparities. GWAS Catalog Detail
Parkinson's disease age at onset genome-wide association study: Defining heritability, genetic loci,... GWAS Catalog Detail
Genome-wide association study of brain amyloid deposition as measured by Pittsburgh Compound-B (PiB)... GWAS Catalog Detail
Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. GWAS Catalog Detail
Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. GWAS Catalog Detail
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Path... GWAS Catalog Detail
Genetic study of multimodal imaging Alzheimer's disease progression score implicates novel loci. GWAS Catalog Detail
Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Path... GWAS Catalog Detail
A large genome-wide association study of age-related macular degeneration highlights contributions o... GWAS Catalog Detail
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Lev... GWAS Catalog Detail
Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Lev... GWAS Catalog Detail
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related... GWAS Catalog Detail
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related... GWAS Catalog Detail
The impact of low-frequency and rare variants on lipid levels. GWAS Catalog Detail
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related... GWAS Catalog Detail
Identification of genetic heterogeneity of Alzheimer's disease across age. GWAS Catalog Detail
Identification of genetic heterogeneity of Alzheimer's disease across age. GWAS Catalog Detail
Leveraging Polygenic Functional Enrichment to Improve GWAS Power. GWAS Catalog Detail
Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pa... GWAS Catalog Detail
Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguish... GWAS Catalog Detail
A Prospective Analysis of Genetic Variants Associated with Human Lifespan. GWAS Catalog Detail
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests ... GWAS Catalog Detail
Population-based genome-wide association study of cognitive decline in older adults free of dementia... GWAS Catalog Detail
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait l... GWAS Catalog Detail
Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait l... GWAS Catalog Detail
Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and isl... GWAS Catalog Detail
Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein l... GWAS Catalog Detail
Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratifie... GWAS Catalog Detail
Shared Genetic and Experimental Links between Obesity-Related Traits and Asthma Subtypes in UK Bioba... GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
A large electronic-health-record-based genome-wide study of serum lipids. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of... GWAS Catalog Detail
A meta-analysis of genome-wide association studies identifies multiple longevity genes. GWAS Catalog Detail
A meta-analysis of genome-wide association studies identifies multiple longevity genes. GWAS Catalog Detail
A meta-analysis of genome-wide association studies identifies multiple longevity genes. GWAS Catalog Detail
A meta-analysis of genome-wide association studies identifies multiple longevity genes. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Human longevity: 25 genetic loci associated in 389,166 UK biobank participants. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Genomic atlas of the human plasma proteome. GWAS Catalog Detail
Factors associated with sharing e-mail information and mental health survey participation in large p... GWAS Catalog Detail
Shared Genetic and Experimental Links between Obesity-Related Traits and Asthma Subtypes in UK Bioba... GWAS Catalog Detail
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. GWAS Catalog Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr19:45,411,941-45,411,941
Variant Type
snv
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