Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906422
rs387906422
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
2 0.925 0.040 MT 8528 start lost T/C snv 0.700 1.000 2 2009 2016
dbSNP: rs207460003
rs207460003
CYTB ; ND6
1 1.000 0.040 MT 15498 missense variant G/A snv 0.700 0
dbSNP: rs786205225
rs786205225
NDUFB11
4 0.851 0.200 X 47142690 stop gained G/A snv 0.700 0