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: rs199476136
rs199476136
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 8851 missense variant T/C snv 0.700 1.000 4 1995 2013