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: rs1485375137
rs1485375137
MTTP
1.000 0.080 4 99608790 missense variant T/C snv 7.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		0.700 1.000 7 1996 2015