Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476105
rs199476105
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C1838951
Disease:
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
A 0.700 CausalMutation CLINVAR
dbSNP: rs199476105
rs199476105
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
A 0.700 CausalMutation CLINVAR
dbSNP: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C1838954
Disease:
STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA
C 0.700 CausalMutation CLINVAR
dbSNP: rs199476109
rs199476109
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C1838951
Disease:
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
C 0.700 CausalMutation CLINVAR
dbSNP: rs200336777
rs200336777
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT
dbSNP: rs207459995
rs207459995
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs207459997
rs207459997
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0424551
Disease:
Impaired exercise tolerance
A 0.700 CausalMutation CLINVAR
dbSNP: rs207459998
rs207459998
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0424551
Disease:
Impaired exercise tolerance
A 0.700 CausalMutation CLINVAR
dbSNP: rs207459999
rs207459999
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0162666
Disease:
Mitochondrial Encephalomyopathies
A 0.700 CausalMutation CLINVAR
dbSNP: rs207460000
rs207460000
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0424551
Disease:
Impaired exercise tolerance
A 0.700 CausalMutation CLINVAR
dbSNP: rs207460001
rs207460001
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0424551
Disease:
Impaired exercise tolerance
C 0.700 CausalMutation CLINVAR
dbSNP: rs207460003
rs207460003
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C1708371
Disease:
Histiocytoid Cardiomyopathy
0.700 GeneticVariation UNIPROT
dbSNP: rs207460005
rs207460005
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C4016600
Disease:
PARKINSONISM/MELAS OVERLAP SYNDROME
A 0.700 CausalMutation CLINVAR
dbSNP: rs386419981
rs386419981
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.700 GeneticVariation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0751651
Disease:
Mitochondrial Diseases
C 0.700 CausalMutation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
G 0.700 CausalMutation CLINVAR
dbSNP: rs387906421
rs387906421
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C3151898
Disease:
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
C 0.700 CausalMutation CLINVAR
dbSNP: rs387906424
rs387906424
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
T 0.700 CausalMutation CLINVAR
dbSNP: rs527236161
rs527236161
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0919267
Disease:
ovarian neoplasm
G 0.700 GeneticVariation CLINVAR
dbSNP: rs527236162
rs527236162
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0919267
Disease:
ovarian neoplasm
T 0.700 GeneticVariation CLINVAR
dbSNP: rs527236163
rs527236163
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0919267
Disease:
ovarian neoplasm
C 0.700 GeneticVariation CLINVAR
dbSNP: rs527236164
rs527236164
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.700 GeneticVariation CLINVAR
dbSNP: rs527236166
rs527236166
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
T 0.700 GeneticVariation CLINVAR
dbSNP: rs527236167
rs527236167
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
C 0.700 GeneticVariation CLINVAR
dbSNP: rs527236168
rs527236168
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
G 0.700 GeneticVariation CLINVAR