Source: ALL

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: 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 7 1992 2001
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
1.000 0.160 MT 14482 missense variant C/A;G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.810 1.000 6 1992 2002
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
1.000 0.160 MT 14495 missense variant A/G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 5 1992 2001
dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
1.000 0.160 MT 14568 missense variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 5 1992 2001
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
1.000 0.160 MT 14498 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 5 1992 2001
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: rs28359178
rs28359178
CYTB ; ND5 ; ND6
0.882 0.280 MT 13708 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 4 1991 2005
dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
1.000 0.160 MT 13730 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 1.000 4 1991 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: rs199476105
rs199476105
CYTB ; ND5 ; ND6
0.851 0.200 MT 14459 missense variant G/A snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 1.000 2 1994 1996
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
0.925 0.200 MT 14596 missense variant A/T snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		0.800 1.000 2 1994 1996
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: rs199476107
rs199476107
CYTB ; ND5 ; ND6
0.925 0.200 MT 14453 missense variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.800 1.000 1 2001 2001
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
0.882 0.280 MT 13708 missense variant G/A snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
0.882 0.280 MT 13708 missense variant G/A snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2015 2015
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: 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: 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: rs199476105
rs199476105
CYTB ; ND5 ; ND6
0.851 0.200 MT 14459 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0
dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
0.851 0.200 MT 14459 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: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.882 0.120 MT 14487 missense variant T/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: rs199476109
rs199476109
CYTB ; ND5 ; ND6
0.882 0.120 MT 14487 missense variant T/C snv
CUI: C1838954
Disease: STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA 		0.700 0
dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
0.925 0.200 MT 14596 missense variant A/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 0