Source: UNIPROT

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: rs199422220
rs199422220
MTTP
1.000 0.080 4 99608827 missense variant G/A snv 1.6E-05 3.5E-05
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 1.000 1 1996 2013