Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Glu31Lys (p.E31K)
(
ENST00000252486.9 )
APOE c.237-2A>G ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Arg154Ser (p.R154S) ( ENST00000252486.9 )
APOE p.Arg154Cys (p.R154C) ( ENST00000252486.9 )
APOE p.Arg160Cys (p.R160C) ( ENST00000252486.9 )
APOE p.Arg163Cys (p.R163C) ( ENST00000252486.9 )
APOE p.Arg163His (p.R163H) ( ENST00000252486.9 )
APOE p.Arg163Pro (p.R163P) ( ENST00000252486.9 )
APOE p.Lys164Gln (p.K164Q) ( ENST00000252486.9 )
APOE p.Lys164Glu (p.K164E) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
APOE p.Trp228Ter (p.W228*) ( ENST00000252486.9 )
APOE p.Arg242Gln (p.R242Q) ( ENST00000252486.9 )
APOE p.Arg242Pro (p.R242P) ( ENST00000252486.9 )
APOE p.Val254Glu (p.V254E) ( ENST00000252486.9 )
APOE p.Glu262Lys (p.E262K) ( ENST00000252486.9 )
APOE p.Glu263Lys (p.E263K) ( ENST00000252486.9 )
APOE p.Arg269Gly (p.R269G) ( ENST00000252486.9 )
APOE p.Arg269Cys (p.R269C) ( ENST00000252486.9 )
APOE p.Glu31Lys (p.E31K) ( ENST00000252486.9 )
APOE c.237-2A>G ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Arg154Ser (p.R154S) ( ENST00000252486.9 )
APOE p.Arg154Cys (p.R154C) ( ENST00000252486.9 )
APOE p.Arg160Cys (p.R160C) ( ENST00000252486.9 )
APOE p.Arg163Cys (p.R163C) ( ENST00000252486.9 )
APOE p.Arg163His (p.R163H) ( ENST00000252486.9 )
APOE p.Arg163Pro (p.R163P) ( ENST00000252486.9 )
APOE p.Lys164Gln (p.K164Q) ( ENST00000252486.9 )
APOE p.Lys164Glu (p.K164E) ( ENST00000252486.9 )
APOE p.Arg176Cys (p.R176C) ( ENST00000252486.9 )
APOE p.Trp228Ter (p.W228*) ( ENST00000252486.9 )
APOE p.Arg242Gln (p.R242Q) ( ENST00000252486.9 )
APOE p.Arg242Pro (p.R242P) ( ENST00000252486.9 )
APOE p.Val254Glu (p.V254E) ( ENST00000252486.9 )
APOE p.Glu262Lys (p.E262K) ( ENST00000252486.9 )
APOE p.Glu263Lys (p.E263K) ( ENST00000252486.9 )
APOE p.Arg269Gly (p.R269G) ( ENST00000252486.9 )
APOE p.Arg269Cys (p.R269C) ( ENST00000252486.9 )
APOE p.Gly145_Gln146insArgCysArgProCysSerAla (p.G145_Q146insRCRPCSA)
APOE p.Gly145_Gln146insArgCysArgProCysSerAla (p.G145_Q146insRCRPCSA) - Associated Disease
- hyperlipoproteinemia type III
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.391031587940591
- Year of publication
- NA
Drugs