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: rs199474701
rs199474701
CYTB ; ND6 ; TRNP
0.925 0.200 MT 15967 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 2 2009 2009
dbSNP: rs199474699
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs199474701
rs199474701
CYTB ; ND6 ; TRNP
0.925 0.200 MT 15967 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0
dbSNP: rs199474701
rs199474701
CYTB ; ND6 ; TRNP
0.925 0.200 MT 15967 non coding transcript exon variant G/A snv
CUI: C4016625
Disease: MERFF SYNDROME
MERFF SYNDROME 		0.700 0