APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Acanthocytosis With Hypobetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1215189537
rs1215189537
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis. 22855658 2012
dbSNP: rs1215189537
rs1215189537
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4551990
Disease:
Acanthocytosis With Hypobetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Molecular diagnosis of hypobetalipoproteinemia: an ENID review. 17570373 2007