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: 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: 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
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: 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: 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: rs1569484169
rs1569484169 		MT 7680 protein altering variant -/GTC ins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral valve physiology 		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: rs1569484178
rs1569484178 		MT 7814 protein altering variant -/CCC delins
CUI: C4531094
Disease: Abnormal mitral valve physiology
Abnormal mitral 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: 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: 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: 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: rs267606881
rs267606881 		1.000 MT 8529 stop gained G/A snv
CUI: C3275686
Disease: CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY
CARDIOMYOPATHY, APICAL HYPERTROPHIC, AND NEUROPATHY 		0.700 0
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