Gene: COX1 ×
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: rs267606883
rs267606883
COX1 ; COX2
2 0.925 0.080 MT 6328 missense variant C/T snv 0.700 1.000 2 2002 2006
dbSNP: rs199474825
rs199474825
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1 1.000 0.080 MT 7587 start lost T/C snv 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: rs199476132
rs199476132
COX1 ; COX2 ; ND2 ; TRNN
3 0.925 0.200 MT 5728 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs28461189
rs28461189
ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6489 missense variant C/A;G snv 0.700 0
dbSNP: rs28679680
rs28679680
ATP6 ; ATP8 ; COX1 ; COX2
1 1.000 0.080 MT 6930 stop gained G/A snv 0.700 0