Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
G 0.810 CausalMutation CLINVAR
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
A 0.810 CausalMutation CLINVAR
dbSNP: rs199476105
rs199476105
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C1839040
Disease:
LEBER OPTIC ATROPHY AND DYSTONIA
A 0.800 CausalMutation CLINVAR
dbSNP: rs199476106
rs199476106
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
G 0.800 CausalMutation CLINVAR
dbSNP: rs199476107
rs199476107
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0162671
Disease:
MELAS Syndrome
A 0.800 CausalMutation CLINVAR
dbSNP: rs207459996
rs207459996
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs207459996
rs207459996
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0009402
Disease:
Colorectal Carcinoma
C 0.800 CausalMutation CLINVAR
dbSNP: rs387906424
rs387906424
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C1839040
Disease:
LEBER OPTIC ATROPHY AND DYSTONIA
T 0.800 CausalMutation CLINVAR
dbSNP: rs387906425
rs387906425
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
A 0.800 CausalMutation CLINVAR
dbSNP: rs397515506
rs397515506
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057518882
rs1057518882
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0242422
Disease:
Parkinsonian Disorders
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518882
rs1057518882
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0456909
Disease:
Blindness
C 0.700 GeneticVariation CLINVAR
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0751651
Disease:
Mitochondrial Diseases
C 0.700 CausalMutation CLINVAR
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C4016608
Disease:
MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS
C 0.700 CausalMutation CLINVAR
dbSNP: rs121434453
rs121434453
Entrez Id: 4519;4541;4556
Gene Symbol: CYTB;ND6;TRNE
CYTB;ND6;TRNE
CUI: C0342289
Disease:
Diabetes-deafness syndrome maternally transmitted (disorder)
C 0.700 CausalMutation CLINVAR
dbSNP: rs1556424691
rs1556424691
Entrez Id: 4519;4541;4576
Gene Symbol: CYTB;ND6;TRNT
CYTB;ND6;TRNT
CUI: C0162672
Disease:
MERRF Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs193302982
rs193302982
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
C 0.700 GeneticVariation CLINVAR
dbSNP: rs193302983
rs193302983
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR
dbSNP: rs193302985
rs193302985
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR
dbSNP: rs193302991
rs193302991
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0006142
Disease:
Malignant neoplasm of breast
A 0.700 GeneticVariation CLINVAR
dbSNP: rs193302996
rs193302996
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0919267
Disease:
ovarian neoplasm
G 0.700 GeneticVariation CLINVAR
dbSNP: rs193302997
rs193302997
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0919267
Disease:
ovarian neoplasm
C 0.700 GeneticVariation CLINVAR
dbSNP: rs199474699
rs199474699
Entrez Id: 4519;4541;4571
Gene Symbol: CYTB;ND6;TRNP
CYTB;ND6;TRNP
CUI: C0026848
Disease:
Myopathy
T 0.700 CausalMutation CLINVAR
dbSNP: rs199474701
rs199474701
Entrez Id: 4519;4541;4571
Gene Symbol: CYTB;ND6;TRNP
CYTB;ND6;TRNP
CUI: C4016625
Disease:
MERFF SYNDROME
A 0.700 CausalMutation CLINVAR
dbSNP: rs199474701
rs199474701
Entrez Id: 4519;4541;4571
Gene Symbol: CYTB;ND6;TRNP
CYTB;ND6;TRNP
CUI: C0162672
Disease:
MERRF Syndrome
A 0.700 CausalMutation CLINVAR