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: rs387906419
rs387906419
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
2 0.925 0.200 MT 7497 non coding transcript exon variant G/A snv 0.700 1.000 4 1998 2010
dbSNP: rs121434458
rs121434458
COX1 ; COX2 ; ND2 ; TRNA
2 1.000 0.200 MT 5591 non coding transcript exon variant G/A snv 0.700 1.000 2 2006 2009
dbSNP: rs111033319
rs111033319
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
4 0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 0.700 1.000 1 1995 1995
dbSNP: rs121434468
rs121434468
COX1 ; ND1 ; ND2 ; TRNI
2 0.925 0.200 MT 4284 non coding transcript exon variant G/A snv 0.700 1.000 1 2002 2002
dbSNP: rs199474673
rs199474673
COX1 ; ND2 ; TRNW
2 1.000 0.200 MT 5521 non coding transcript exon variant G/A snv 0.700 1.000 1 1998 1998
dbSNP: rs199474817
rs199474817
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
3 0.882 0.200 MT 7512 non coding transcript exon variant T/C snv 0.700 1.000 1 1995 1995
dbSNP: rs199474818
rs199474818
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
3 0.882 0.320 MT 7445 stop lost A/C;G;T snv 0.700 1.000 1 1994 1994
dbSNP: rs199474821
rs199474821
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3 ; TRNS1
2 0.925 0.280 MT 7511 non coding transcript exon variant T/C snv 0.700 1.000 1 1999 1999
dbSNP: rs199476123
rs199476123
COX1 ; ND1 ; ND2
3 0.882 0.200 MT 3946 missense variant G/A snv 0.700 0
dbSNP: rs199476124
rs199476124
COX1 ; ND1 ; ND2
1 1.000 0.200 MT 3949 missense variant T/C 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: rs199476141
rs199476141
COX1 ; ND1 ; ND2 ; TRNQ
1 1.000 0.200 MT 4332 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs200077222
rs200077222
TRNC ; COX1 ; COX2 ; ND2
1 1.000 0.200 MT 5814 non coding transcript exon variant T/C snv 0.700 0