COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569484104
rs1569484104
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
AGGG 0.700 CausalMutation CLINVAR
dbSNP: rs1569484114
rs1569484114
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
AAAG 0.700 GeneticVariation CLINVAR
dbSNP: rs1569484115
rs1569484115
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
A 0.700 CausalMutation CLINVAR
dbSNP: rs1569484116
rs1569484116
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569484123
rs1569484123
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
ATCC 0.700 GeneticVariation CLINVAR
dbSNP: rs1569484124
rs1569484124
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569484125
rs1569484125
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4703464
Disease:
Abnormal aortic valve physiology
C 0.700 CausalMutation CLINVAR
dbSNP: rs1569484165
rs1569484165
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C4703464
Disease:
Abnormal aortic valve physiology
CCCA 0.700 GeneticVariation CLINVAR
dbSNP: rs1569484166
rs1569484166
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C4703464
Disease:
Abnormal aortic valve physiology
TCCA 0.700 GeneticVariation CLINVAR
dbSNP: rs1569484091
rs1569484091
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569484096
rs1569484096
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569484098
rs1569484098
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology
TCAC 0.700 CausalMutation CLINVAR
dbSNP: rs1569484100
rs1569484100
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology
G 0.700 CausalMutation CLINVAR
dbSNP: rs1569484107
rs1569484107
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology
TTGG 0.700 CausalMutation CLINVAR
dbSNP: rs1569484108
rs1569484108
Entrez Id: 4508;4509;4512;4513
Gene Symbol: ATP6;ATP8;COX1;COX2
ATP6;ATP8;COX1;COX2
CUI: C4531094
Disease:
Abnormal mitral valve physiology
T 0.700 CausalMutation CLINVAR
dbSNP: rs1569484169
rs1569484169
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C4531094
Disease:
Abnormal mitral valve physiology
TGTC 0.700 CausalMutation CLINVAR
dbSNP: rs1569484177
rs1569484177
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C4531094
Disease:
Abnormal mitral valve physiology
GCTC 0.700 CausalMutation CLINVAR
dbSNP: rs1569484178
rs1569484178
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C4531094
Disease:
Abnormal mitral valve physiology
GCCC 0.700 CausalMutation CLINVAR
dbSNP: rs121434466
rs121434466
Entrez Id: 4512;4535;4536;4565
Gene Symbol: COX1;ND1;ND2;TRNI
COX1;ND1;ND2;TRNI
CUI: C4016613
Disease:
CARDIOMYOPATHY, FATAL
G 0.700 CausalMutation CLINVAR
dbSNP: rs121434467
rs121434467
Entrez Id: 4512;4535;4536;4565
Gene Symbol: COX1;ND1;ND2;TRNI
COX1;ND1;ND2;TRNI
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
G 0.700 CausalMutation CLINVAR
dbSNP: rs121434470
rs121434470
Entrez Id: 4512;4535;4536;4565
Gene Symbol: COX1;ND1;ND2;TRNI
COX1;ND1;ND2;TRNI
CUI: C0949658
Disease:
Cardiomyopathy, Hypertrophic, Familial
G 0.700 CausalMutation CLINVAR
dbSNP: rs28357984
rs28357984
Entrez Id: 4512;4536
Gene Symbol: COX1;ND2
COX1;ND2
CUI: C0007820
Disease:
Cerebrovascular Disorders
0.010 GeneticVariation BEFREE Mitochondrial DNA 5178 C/A (mt5178 C/A), namely NADH dehydrogenase subunit 2 237 Leu/Met, polymorphism is as reported in literature associated with longevity and susceptibility to ischemic heart disease or cerebrovascular disorders in the Japanese population. 15680495 2005
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission. 16407113 2006
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase. 19218458 2009
dbSNP: rs267606884
rs267606884
Entrez Id: 4508;4509;4512;4513;4514
Gene Symbol: ATP6;ATP8;COX1;COX2;COX3
ATP6;ATP8;COX1;COX2;COX3
CUI: C0009402
Disease:
Colorectal Carcinoma
C 0.800 CausalMutation CLINVAR