APOB, apolipoprotein B, 338

N. diseases: 339; N. variants: 122
Disease: Familial LCAT deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs546684381
rs546684381
Entrez Id: 338
Gene Symbol: APOB
APOB
CUI: C4087498
Disease:
Familial LCAT deficiency 		0.010 GeneticVariation BEFREE A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. 12957688 2003