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: rs28933402
rs28933402
0.925 0.120 9 133353893 missense variant C/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 7 1998 2012