APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Acanthocytosis With Hypobetalipoproteinemia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1215189537
rs1215189537 		0.925 0.080 2 21007749 frameshift variant AAAGA/- delins 4.0E-06
CUI: C4551990
Disease: Acanthocytosis With Hypobetalipoproteinemia
Acanthocytosis With Hypobetalipoproteinemia 		Nutritional and Metabolic Diseases 0.700 1.000 2 2007 2012