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: 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: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
0.925 0.200 MT 12315 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 5 1996 2009
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: 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: 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: rs267606893
rs267606893
ND5
0.925 0.120 MT 12706 missense variant T/C snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.800 1.000 3 2002 2007
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: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
0.925 0.200 MT 12147 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 2 2004 2004
dbSNP: rs1556423844
rs1556423844
ND3 ; ND4 ; ND4L ; ND5
1.000 0.160 MT 10663 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 1995 2002
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 2 1988 2011
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: rs28384199
rs28384199
ND4 ; ND5
0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 2003 2003
dbSNP: rs28384199
rs28384199
ND4 ; ND5
0.882 0.160 MT 11777 missense variant C/A;G snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 2 2003 2004
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
dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
0.925 0.200 MT 14453 missense variant G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2001 2001
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		0.700 0
dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
MT 14598 missense variant T/C snv
CUI: C0456909
Disease: Blindness
Blindness 		0.700 0
dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
MT 12271 non coding transcript exon variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
MT 12283 non coding transcript exon variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
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: rs118203888
rs118203888
ND4 ; ND5 ; TRNS2
0.925 0.200 MT 12258 non coding transcript exon variant C/A snv
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		0.700 0
dbSNP: rs118203888
rs118203888
ND4 ; ND5 ; TRNS2
0.925 0.200 MT 12258 non coding transcript exon variant C/A snv
CUI: C4016628
Disease: CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS
CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS 		0.700 0