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: rs767833468
rs767833468
1.000 0.080 4 99618993 missense variant G/A snv 4.0E-06
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia
0.800 1.000 8 1996 2015