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: rs199476140
rs199476140
COX1 ; ND1 ; ND2 ; TRNQ
MT 4365 non coding transcript exon variant -/A delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0