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: rs1569484104
rs1569484104
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 MT 6716 inframe insertion -/GGG delins 0.700 0
dbSNP: rs1569484114
rs1569484114
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 MT 6809 inframe insertion -/AAG ins 0.700 0
dbSNP: rs1569484115
rs1569484115
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 MT 6815 frameshift variant T/- delins 0.700 0
dbSNP: rs1569484116
rs1569484116
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 MT 6858 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484123
rs1569484123
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 MT 6905 inframe insertion -/CTC delins 0.700 0
dbSNP: rs1569484124
rs1569484124
ATP6 ; ATP8 ; COX1 ; COX2
2 0.925 0.080 MT 6925 frameshift variant C/- delins 0.700 0
dbSNP: rs1569484125
rs1569484125
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 MT 6936 frameshift variant A/- del 0.700 0
dbSNP: rs1569484165
rs1569484165
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 MT 7661 protein altering variant -/CCA ins 0.700 0
dbSNP: rs1569484166
rs1569484166
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 MT 7668 inframe insertion -/CAC delins 0.700 0