Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767833468
rs767833468
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		A 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612

2013