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: 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: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 2 2003 2016
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
dbSNP: rs118203889
rs118203889
ND4 ; ND5 ; TRNS2
1.000 MT 12207 non coding transcript exon variant G/A snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
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: 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: rs121434462
rs121434462
ND4 ; ND5 ; TRNL2
0.925 0.200 MT 12315 non coding transcript exon variant G/A snv
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		0.700 0
dbSNP: rs121434463
rs121434463
ND4 ; ND5 ; TRNL2
MT 12320 non coding transcript exon variant A/G snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		0.700 0
dbSNP: rs121434473
rs121434473
ND4 ; ND5 ; TRNH
1.000 MT 12183 non coding transcript exon variant G/A snv
CUI: C4016611
Disease: PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS
PIGMENTARY RETINOPATHY AND SENSORINEURAL DEAFNESS 		0.700 0
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: rs121434474
rs121434474
ND4 ; ND5 ; TRNH
0.925 0.200 MT 12147 non coding transcript exon variant G/A snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
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: 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: 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: 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: 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 0 1994 1996
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 0 1992 2001
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