APOE apolipoprotein E

Information
Symbol
APOE
Type
protein-coding
Description
apolipoprotein E
Entrez Gene ID
348
Genome
hg19
Position
chr19:45,409,053-45,412,650
Genome
hg38
Position
chr19:44,905,796-44,909,393
MIM
107741 OMIM
HGNC
HGNC:613 HGNC
Ensembl
ENSG00000130203 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 28
Likely pathogenic 0 14
Benign 13 6
Likely benign 0 136
Conflicting classifications of pathogenicity 0 6
Conflicting classifications of pathogenicity; other; risk factor 0 2
drug response 0 4
no classification for the single variant 0 12
not provided 3 6
Uncertain significance 0 124
Ranking
ClinVar
0
2
40
232
34
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM AD2
SYNONYM APO-E
SYNONYM ApoE4
SYNONYM LDLCQ5
SYNONYM LPG
MIM 107741 OMIM
HGNC HGNC:613 HGNC
Ensembl ENSG00000130203 Ensembl
AllianceGenome HGNC:613
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252486.9 hg38 chr19 44,905,796 44,909,393 3,598
ENST00000252486.9 hg19 chr19 45,409,053 45,412,650 3,598
Genome browser