Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs146064714
rs146064714
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Abetalipoproteinemia in Israel: evidence for a founder mutation in the Ashkenazi Jewish population and a contiguous gene deletion in an Arab patient. 17275380

2007
dbSNP: rs146064714
rs146064714
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. 10679949

2000
dbSNP: rs146064714
rs146064714
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia. 7782284

1995
dbSNP: rs146064714
rs146064714
MTTP
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		T 0.700 CausalMutation CLINVAR Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. 8533758

1995