Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs146064714
rs146064714
MTTP
1.000 0.080 4 99622756 stop gained G/T snv 1.2E-04 3.5E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.700 1.000 4 1995 2007