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: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.882 0.120 MT 14487 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 1 2003 2005