Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422221
rs199422221
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		T 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612

2013
dbSNP: rs199422221
rs199422221
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		T 0.800 CausalMutation CLINVAR It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable. 10946006

2000