COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
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: rs1569484209
rs1569484209
Entrez Id: 4508;4509;4513;4514;4537
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3
ATP6;ATP8;COX2;COX3;ND3
CUI: C4703464
Disease:
Abnormal aortic valve physiology
CCCA 0.700 CausalMutation 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: rs1569484221
rs1569484221
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C4531094
Disease:
Abnormal mitral valve physiology
CCCA 0.700 CausalMutation CLINVAR
dbSNP: rs1569484208
rs1569484208
Entrez Id: 4508;4509;4513;4514;4537
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3
ATP6;ATP8;COX2;COX3;ND3
CUI: C0149630
Disease:
Bicuspid aortic valve
TTAA 0.700 CausalMutation CLINVAR
dbSNP: rs1569484234
rs1569484234
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C0149630
Disease:
Bicuspid aortic valve
TAAA 0.700 CausalMutation CLINVAR
dbSNP: rs118192100
rs118192100
Entrez Id: 4508;4509;4513;4514;4537;4566
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;TRNK
ATP6;ATP8;COX2;COX3;ND3;TRNK
CUI: C4016620
Disease:
CARDIOMYOPATHY AND DEAFNESS
A 0.700 CausalMutation CLINVAR
dbSNP: rs267606881
rs267606881
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C3275686
Disease:
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906422
rs387906422
Entrez Id: 4508;4509;4513;4514;4537;4539
Gene Symbol: ATP6;ATP8;COX2;COX3;ND3;ND4L
ATP6;ATP8;COX2;COX3;ND3;ND4L
CUI: C2748884
Disease:
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
0.800 GeneticVariation UNIPROT Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes. 19188198 2009