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Reference allele: CAlternative allele (effect allele): T
- Clinical Significance (genotype includes):
- 441262:Pathogenic
- 441265:Pathogenic
- 441266:Pathogenic
- 666796:Uncertain significance
- Hypercholesterolemia
- Warfarin response
- Familial type 3 hyperlipoproteinemia
- not specified
- atorvastatin response - Efficacy
- not provided
- Disease Name (Variant Includes):
- Apolipoproteinemia E1
- Familial type 3 hyperlipoproteinemia
- not specified
- Human Phenotype Ontology:HP:0003124
- Human Phenotype Ontology:HP:0008154
- Human Phenotype Ontology:HP:0008173
- Human Phenotype Ontology:HP:0008359
- MedGen:C1522133
- SNOMED CT:238076009 MONDO:MONDO:0007390
- MedGen:C0750384
- OMIM:122700 MONDO:MONDO:0018473
- MedGen:C0020479
- OMIM:617347
- Orphanet:ORPHA412
- SNOMED CT:398796005 MedGen:CN169374 MedGen:CN236484 MedGen:CN517202
- Disease Database ID (included variant):
- MONDO:MONDO:0018473
- MedGen:C0020479
- OMIM:617347
- Orphanet:ORPHA412
- SNOMED CT:398796005 MedGen:CN169374