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: rs199422221
rs199422221
MTTP
1.000 0.080 4 99619094 missense variant A/T snv
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.800 1.000 1 2000 2013