APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
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: rs5742904
rs5742904
0.689 0.280 2 21006288 missense variant C/A;T snv 2.8E-04 7.3E-04
CUI: C0020479
Disease: Hyperlipoproteinemia Type III
Hyperlipoproteinemia Type III
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1992 1992