Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199476119
rs199476119
COX1 ; ND1 ; ND2
1.000 0.160 MT 4160 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 6 1991 1992
dbSNP: rs199476115
rs199476115
COX1 ; ND2
1.000 0.160 MT 5244 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 2 1991 1992
dbSNP: rs267606884
rs267606884
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7275 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 2 2006 2009
dbSNP: rs281865417
rs281865417
COX1 ; COX2
1.000 0.080 MT 6277 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 1.000 2 2006 2009
dbSNP: rs199474827
rs199474827
ATP6 ; ATP8 ; COX1 ; COX2 ; COX3
1.000 0.080 MT 7671 missense variant T/A snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.800 1.000 1 1999 1999
dbSNP: rs267606883
rs267606883
COX1 ; COX2
0.925 0.080 MT 6328 missense variant C/T snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 1.000 2 2002 2006
dbSNP: rs28357980
rs28357980
COX1 ; ND2
1.000 0.160 MT 4917 missense variant A/G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 1991 1992
dbSNP: rs1599988
rs1599988
COX1 ; ND1 ; ND2
1.000 0.160 MT 4216 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0
dbSNP: rs28461189
rs28461189
ATP8 ; COX1 ; COX2
1.000 0.080 MT 6489 missense variant C/A;G snv
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.700 0