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: rs267606893
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 3 2002 2007