Source: CLINVAR

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: rs587776435
rs587776435
COX1 ; ND2 ; TRNW
1.000 0.120 MT 5523 non coding transcript exon variant T/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2009 2009