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: rs1569484234
rs1569484234 		1.000 0.040 MT 8750 protein altering variant -/AAA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 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: rs1569484098
rs1569484098 		MT 6687 inframe insertion -/ACC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs1569484208
rs1569484208 		1.000 0.040 MT 8418 protein altering variant -/ATA delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 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
dbSNP: rs1569484221
rs1569484221 		MT 8560 inframe insertion -/CAC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral 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: rs1569484209
rs1569484209 		1.000 MT 8431 inframe insertion -/CCA ins
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.700 0
dbSNP: rs1569484178
rs1569484178 		MT 7814 protein altering variant -/CCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral 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: 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: rs1569484120
rs1569484120 		1.000 0.080 MT 6887 inframe insertion -/GGG delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1569484169
rs1569484169 		MT 7680 protein altering variant -/GTC ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		0.700 0
dbSNP: rs387906423
rs387906423 		1.000 0.200 MT 8617 frameshift variant -/T delins
CUI: C1328349
Disease: Neuropathy ataxia and retinis pigmentosa
Neuropathy ataxia and retinis pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1569484177
rs1569484177 		MT 7789 inframe insertion -/TCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral 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: rs1569484042
rs1569484042 		1.000 0.080 MT 5954 frameshift variant A/- del
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 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: 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: rs1569484122
rs1569484122 		1.000 0.080 MT 6900 frameshift variant A/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 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: rs1569484164
rs1569484164 		1.000 0.080 MT 7638 frameshift variant A/- delins
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199474818
rs199474818 		0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 4 1994 2008
dbSNP: rs199474818
rs199474818 		0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 1.000 1 1994 1994
dbSNP: rs199474818
rs199474818 		0.882 0.320 MT 7445 stop lost A/C;G;T snv
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0