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: rs1569484091
rs1569484091
ATP6 ; ATP8 ; COX1 ; COX2
1 MT 6608 frameshift variant C/- del 0.700 0
dbSNP: rs1569484096
rs1569484096
ATP6 ; ATP8 ; COX1 ; COX2
1 MT 6673 frameshift variant T/- delins 0.700 0
dbSNP: rs1569484098
rs1569484098
ATP6 ; ATP8 ; COX1 ; COX2
1 MT 6687 inframe insertion -/ACC delins 0.700 0
dbSNP: rs1569484100
rs1569484100
ATP6 ; ATP8 ; COX1 ; COX2
1 MT 6692 frameshift variant A/- delins 0.700 0
dbSNP: rs1569484107
rs1569484107
ATP6 ; ATP8 ; COX1 ; COX2
1 MT 6743 inframe insertion -/TGG ins 0.700 0
dbSNP: rs1569484108
rs1569484108
ATP6 ; ATP8 ; COX1 ; COX2
1 MT 6749 frameshift variant C/- delins 0.700 0
dbSNP: rs1569484169
rs1569484169
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 MT 7680 protein altering variant -/GTC ins 0.700 0
dbSNP: rs1569484177
rs1569484177
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 MT 7789 inframe insertion -/TCC delins 0.700 0
dbSNP: rs1569484178
rs1569484178
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 MT 7814 protein altering variant -/CCC delins 0.700 0
dbSNP: rs1569484221
rs1569484221
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
1 MT 8560 inframe insertion -/CAC delins 0.700 0