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: 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: 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: rs199474701
rs199474701
CYTB ; ND6 ; TRNP
0.925 0.200 MT 15967 non coding transcript exon variant G/A snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 2 2009 2009
dbSNP: rs207459997
rs207459997
CYTB ; ND6
0.925 MT 15615 missense variant G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 2 1996 1996
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 1995 1995
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: rs207459998
rs207459998
CYTB ; ND6
1.000 MT 14846 missense variant G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 1999 1999
dbSNP: rs207459999
rs207459999
CYTB ; ND6
0.925 0.160 MT 15242 stop gained G/A snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 1 2000 2000
dbSNP: rs207460000
rs207460000
CYTB ; ND6
1.000 MT 15150 stop gained G/A snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2001 2001
dbSNP: rs207460002
rs207460002
CYTB ; ND6
1.000 MT 15579 missense variant A/G snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2001 2001
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		0.700 1.000 1 2009 2009
dbSNP: rs41518645
rs41518645
CYTB ; ND6
0.925 0.200 MT 15257 missense variant G/A snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 1 1992 1992
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: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		0.700 0
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv
CUI: C4016608
Disease: MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS 		0.700 0
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0
dbSNP: rs193302982
rs193302982
CYTB ; ND6
1.000 0.080 MT 14783 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs193302983
rs193302983
CYTB ; ND6
1.000 0.080 MT 14905 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs193302985
rs193302985
CYTB ; ND6
1.000 0.080 MT 15043 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs193302991
rs193302991
CYTB ; ND6
1.000 0.080 MT 15301 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0