Source: CLINVAR

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: rs121434456
rs121434456
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1.000 0.120 MT 10438 non coding transcript exon variant A/G snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.700 0
dbSNP: rs387906731
rs387906731
COX3 ; ND3 ; ND4 ; ND4L ; ND5 ; TRNR
1.000 0.120 MT 10450 non coding transcript exon variant A/G snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 6 1997 2004
dbSNP: rs587776440
rs587776440
CYTB ; ND5
1.000 0.120 MT 13514 missense variant A/G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 4 2001 2004
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
1.000 0.160 MT 13051 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 2003 2016
dbSNP: rs267606898
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 2006 2008
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
1.000 0.160 MT 13051 missense variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs199974018
rs199974018
CYTB ; ND5
1.000 0.160 MT 12811 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0
dbSNP: rs267606894
rs267606894
CYTB ; ND5
1.000 0.200 MT 12770 missense variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 0 1997 2007
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 0 1997 2007
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0
dbSNP: rs267606895
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs267606896
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs267606896
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 0 1997 2007
dbSNP: rs267606898
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0
dbSNP: rs267606898
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 0 1997 2007
dbSNP: rs267606898
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv
CUI: C1838951
Disease: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs267606899
rs267606899
CYTB ; ND5
1.000 0.160 MT 12848 missense variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 0 1991 2005
dbSNP: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.882 0.120 MT 14487 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 1.000 4 2003 2005
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
0.851 0.200 MT 14459 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 3 1994 2000
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
0.925 0.160 MT 14484 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 1.000 1 1992 2001
dbSNP: rs199476104
rs199476104
CYTB ; ND5 ; ND6
0.925 0.160 MT 14484 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2002 2002