CYTB, cytochrome b, 4519

N. diseases: 166; N. variants: 83
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: 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: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
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: 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: rs199974018
rs199974018
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
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: rs267606895
rs267606895
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
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: rs199476104
rs199476104
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs199476108
rs199476108
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.810 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs199476106
rs199476106
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs397515506
rs397515506
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs869025186
rs869025186
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. 1417830 1992
dbSNP: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs387906425
rs387906425
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs28359178
rs28359178
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs41518645
rs41518645
Entrez Id: 4519;4541
Gene Symbol: CYTB;ND6
CYTB;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. 1732158 1992
dbSNP: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
dbSNP: rs387906425
rs387906425
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
dbSNP: rs28359178
rs28359178
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.700 GeneticVariation UNIPROT Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy. 1900003 1991
dbSNP: rs267606899
rs267606899
Entrez Id: 4519;4540
Gene Symbol: CYTB;ND5
CYTB;ND5
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825 1993
dbSNP: rs387906425
rs387906425
Entrez Id: 4519;4540;4541
Gene Symbol: CYTB;ND5;ND6
CYTB;ND5;ND6
CUI: C0917796
Disease:
Optic Atrophy, Hereditary, Leber
0.800 GeneticVariation UNIPROT When does bilateral optic atrophy become Leber hereditary optic neuropathy? 8213825 1993