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
dbSNP: rs199476141
rs199476141
COX1 ; ND1 ; ND2 ; TRNQ
1.000 0.200 MT 4332 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 0
dbSNP: rs41456348
rs41456348
COX1 ; ND1 ; ND2 ; TRNQ
1.000 MT 4336 non coding transcript exon variant T/C snv
CUI: C4016609
Disease: SENSORINEURAL DEAFNESS AND MIGRAINE
SENSORINEURAL DEAFNESS AND MIGRAINE 		0.700 0