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: rs199476112
rs199476112
ND4 ; ND5
0.925 0.160 MT 11778 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.810 1.000 4 1988 2011
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: rs199476113
rs199476113
ND4 ; ND4L ; ND5
1.000 0.200 MT 11084 missense variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.700 1.000 1 1992 1992
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: rs200873900
rs200873900
ND4 ; ND5
1.000 0.200 MT 11696 missense variant G/A snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA
0.700 1.000 1 1996 1996
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: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
1.000 0.160 MT 10664 synonymous variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 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: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
1.000 0.080 MT 10563 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 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