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: rs199476118
rs199476118
ND1 ; ND2
1 0.925 0.160 MT 3460 missense variant G/A snv 0.810 1.000 6 1991 2012
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4160 missense variant T/C snv 0.800 1.000 6 1991 1992
dbSNP: rs41460449
rs41460449
ND1 ; ND2
1 1.000 0.160 MT 3394 missense variant T/C snv 0.800 1.000 6 1991 1992
dbSNP: rs1599988
rs1599988
COX1 ; ND1 ; ND2
1 1.000 0.160 MT 4216 missense variant T/C snv 0.700 0