Gene: COX3 ×
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: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7671 missense variant T/A snv 0.800 1.000 1 1999 1999
dbSNP: rs1556423388
rs1556423388
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3
1 1.000 0.080 MT 8087 frameshift variant T/- delins 0.700 0
dbSNP: rs199474825
rs199474825
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7587 start lost T/C snv 0.700 0
dbSNP: rs199474828
rs199474828
ATP6 ; ATP8 ; COX2 ; COX3
1 1.000 0.080 MT 8042 frameshift variant TA/- delins 0.700 0
dbSNP: rs199474829
rs199474829
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7896 stop gained G/A snv 0.700 0
dbSNP: rs267606612
rs267606612
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 1.000 0.080 MT 9480 inframe deletion TCGCAGGATTTTTCT/- delins 0.700 0
dbSNP: rs267606613
rs267606613
COX3 ; ND3 ; ND4 ; ND4L
1 1.000 0.080 MT 9952 stop gained G/A snv 0.700 0
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 9531 frameshift variant -/C delins 0.700 0
dbSNP: rs267606615
rs267606615
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.080 MT 9379 stop gained G/A snv 0.700 0