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: 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: rs794726857
rs794726857
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.200 MT 8969 missense variant G/A snv 0.700 1.000 3 2014 2018
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: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 1.000 1 1991 1991
dbSNP: rs118192099
rs118192099
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
3 0.882 0.200 MT 8356 non coding transcript exon variant T/C snv 0.700 1.000 1 1992 1992
dbSNP: rs118192100
rs118192100
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
4 0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 0.700 1.000 1 1996 1996
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: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.010 1.000 1 2007 2007