COX2, cytochrome c oxidase subunit II, 4513

N. diseases: 875; N. variants: 79
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906422
rs387906422 		0.925 0.040 MT 8528 start lost T/C snv
CUI: C2748884
Disease: CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC 		0.800 1.000 1 2009 2009
dbSNP: rs111033319
rs111033319 		0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C3151975
Disease: DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES
DEAFNESS, SENSORINEURAL, WITH NEUROLOGIC FEATURES 		0.700 0
dbSNP: rs111033319
rs111033319 		0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
CUI: C4016626
Disease: MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY
MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY 		0.700 0
dbSNP: rs118192099
rs118192099 		0.882 0.200 MT 8356 non coding transcript exon variant T/C snv
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME 		0.700 0
dbSNP: rs118192100
rs118192100 		0.882 0.200 MT 8363 non coding transcript exon variant G/A snv
CUI: C4016620
Disease: CARDIOMYOPATHY AND DEAFNESS
CARDIOMYOPATHY AND DEAFNESS 		0.700 0
dbSNP: rs118192101
rs118192101 		1.000 MT 8313 non coding transcript exon variant G/A snv
CUI: C4551995
Disease: Mitochondrial DNA Depletion Syndrome 1
Mitochondrial DNA Depletion Syndrome 1 		0.700 0
dbSNP: rs118192103
rs118192103 		1.000 MT 8342 non coding transcript exon variant G/A snv
CUI: C4016622
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MYOCLONUS 		0.700 0
dbSNP: rs118203891
rs118203891 		1.000 MT 5874 non coding transcript exon variant T/C snv
CUI: C4016631
Disease: EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC
EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC 		0.700 0
dbSNP: rs121434454
rs121434454 		1.000 MT 7526 non coding transcript exon variant A/G snv
CUI: C4016606
Disease: MITOCHONDRIAL MYOPATHY, ISOLATED
MITOCHONDRIAL MYOPATHY, ISOLATED 		0.700 0
dbSNP: rs121434457
rs121434457 		1.000 MT 5650 non coding transcript exon variant G/A snv
CUI: C4016604
Disease: MYOTONIC DYSTROPHY-LIKE MYOPATHY
MYOTONIC DYSTROPHY-LIKE MYOPATHY 		0.700 0
dbSNP: rs1569484091
rs1569484091 		MT 6608 frameshift variant C/- del
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484096
rs1569484096 		MT 6673 frameshift variant T/- delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484098
rs1569484098 		MT 6687 inframe insertion -/ACC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484100
rs1569484100 		MT 6692 frameshift variant A/- delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484104
rs1569484104 		1.000 MT 6716 inframe insertion -/GGG delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484107
rs1569484107 		MT 6743 inframe insertion -/TGG ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484108
rs1569484108 		MT 6749 frameshift variant C/- delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484114
rs1569484114 		1.000 MT 6809 inframe insertion -/AAG ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484115
rs1569484115 		1.000 MT 6815 frameshift variant T/- delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484116
rs1569484116 		1.000 MT 6858 frameshift variant A/- delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484123
rs1569484123 		1.000 MT 6905 inframe insertion -/CTC delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484124
rs1569484124 		0.925 0.080 MT 6925 frameshift variant C/- delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484125
rs1569484125 		1.000 MT 6936 frameshift variant A/- del
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484165
rs1569484165 		1.000 MT 7661 protein altering variant -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484166
rs1569484166 		1.000 MT 7668 inframe insertion -/CAC delins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0