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: rs207460000
rs207460000
CYTB ; ND6
1.000 MT 15150 stop gained G/A snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs207460001
rs207460001
CYTB ; ND6
MT 15197 missense variant T/C snv
CUI: C0424551
Disease: Impaired exercise tolerance
Impaired exercise tolerance 		0.700 0
dbSNP: rs207460003
rs207460003
CYTB ; ND6
1.000 0.040 MT 15498 missense variant G/A snv
CUI: C1708371
Disease: Histiocytoid Cardiomyopathy
Histiocytoid Cardiomyopathy 		0.700 0
dbSNP: rs207460005
rs207460005
CYTB ; ND6
1.000 MT 14781 frameshift variant TTAA/- delins
CUI: C4016600
Disease: PARKINSONISM/MELAS OVERLAP SYNDROME
PARKINSONISM/MELAS OVERLAP SYNDROME 		0.700 0
dbSNP: rs386419981
rs386419981
CYTB ; ND6
1.000 0.080 MT 14891 missense variant C/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 0
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		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
dbSNP: rs527236161
rs527236161
CYTB ; ND6
1.000 0.120 MT 14743 upstream gene variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236162
rs527236162
CYTB ; ND6
1.000 0.120 MT 14753 missense variant C/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236163
rs527236163
CYTB ; ND6
1.000 0.120 MT 14784 missense variant T/C snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236164
rs527236164
CYTB ; ND6
1.000 0.080 MT 14800 synonymous variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236166
rs527236166
CYTB ; ND6
1.000 0.080 MT 14950 synonymous variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236167
rs527236167
CYTB ; ND6
1.000 0.080 MT 14968 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236168
rs527236168
CYTB ; ND6
1.000 0.080 MT 14974 synonymous variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236169
rs527236169
CYTB ; ND6
1.000 0.080 MT 15001 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236170
rs527236170
CYTB ; ND6
1.000 0.080 MT 15049 synonymous variant C/T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236171
rs527236171
CYTB ; ND6
1.000 0.120 MT 15058 synonymous variant C/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236173
rs527236173
CYTB ; ND6
1.000 0.080 MT 15214 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236174
rs527236174
CYTB ; ND6
1.000 0.080 MT 15226 synonymous variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236175
rs527236175
CYTB ; ND6
1.000 0.080 MT 15289 synonymous variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236178
rs527236178
CYTB ; ND6
1.000 0.120 MT 15328 synonymous variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236179
rs527236179
CYTB ; ND6
1.000 0.120 MT 15334 synonymous variant C/T snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236180
rs527236180
CYTB ; ND6
1.000 0.080 MT 15346 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236181
rs527236181
CYTB ; ND6
1.000 0.080 MT 15355 synonymous variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0