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: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 5 1990 2007
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9176 missense variant T/C;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 5 1993 2007
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.810 1.000 5 1993 2013
dbSNP: rs199476117
rs199476117
COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 10158 missense variant T/C snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 3 2001 2010
dbSNP: rs267606890
rs267606890
COX3 ; ND3 ; ND4 ; ND4L
0.925 0.120 MT 10191 missense variant T/C snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 3 2001 2010
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 3 2001 2010
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
0.800 1.000 2 2005 2007
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
0.800 1.000 2 2005 2007
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: 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: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.742 0.320 MT 8993 missense variant T/C;G snv
Neuropathy ataxia and retinis pigmentosa
0.800 1.000 1 1990 1994
dbSNP: rs199476134
rs199476134
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.160 MT 9101 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 1.000 1 1995 1995
dbSNP: rs199476135
rs199476135
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9176 missense variant T/C;G snv
Striatonigral Degeneration, Infantile, Mitochondrial
0.800 1.000 1 1995 1995
dbSNP: rs267606891
rs267606891
COX3 ; ND3 ; ND4 ; ND4L
0.882 0.200 MT 10197 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.800 1.000 1 2007 2009
dbSNP: rs387906422
rs387906422
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; ND4L
0.925 0.040 MT 8528 start lost T/C snv
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
0.800 1.000 1 2009 2009
dbSNP: rs199474826
rs199474826
ATP6 ; ATP8 ; COX2 ; COX3
1.000 0.080 MT 8009 missense variant G/A snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
dbSNP: rs200613617
rs200613617
COX3 ; ND3 ; ND4 ; ND4L
1.000 0.160 MT 9804 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.800 0
dbSNP: rs267606611
rs267606611
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
1.000 0.160 MT 9438 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 0
dbSNP: rs794726857
rs794726857
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
0.925 0.200 MT 8969 missense variant G/A snv
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 3
0.800 0