Source: UNIPROT

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 5 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 5 1992 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 4 1988 2011
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: 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 4 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 4 1997 2007
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 4 1997 2007
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 4 1997 2007
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 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: 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: 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: 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: 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 1 2003 2005
dbSNP: rs267606892
rs267606892
ND3 ; ND4 ; ND4L ; ND5
1.000 0.080 MT 10563 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 0
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: 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: rs267606896
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 1.000 3 2002 2007
dbSNP: rs199476113
rs199476113
ND4 ; ND4L ; ND5
1.000 0.200 MT 11084 missense variant A/G snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.700 1.000 1 1992 1992
dbSNP: rs200873900
rs200873900
ND4 ; ND5
1.000 0.200 MT 11696 missense variant G/A snv
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA
0.700 1.000 1 1996 1996
dbSNP: rs193302933
rs193302933
ND3 ; ND4 ; ND4L ; ND5
1.000 0.160 MT 10664 synonymous variant C/T snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber
0.700 0