COX1, cytochrome c oxidase subunit I, 4512

N. diseases: 421; N. variants: 89
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: rs111033319
rs111033319 		0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
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 2 1999 2005
dbSNP: rs111033319
rs111033319 		0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins
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 1995 1995
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: rs118203884
rs118203884 		MT 4409 non coding transcript exon variant T/C snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 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: rs118203892
rs118203892 		1.000 0.240 MT 5885 non coding transcript exon variant T/- delins
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs118203893
rs118203893 		1.000 0.240 MT 5877 non coding transcript exon variant C/T snv
CUI: C0022541
Disease: Kearns-Sayre syndrome
Kearns-Sayre syndrome 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 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: rs121434458
rs121434458 		1.000 0.200 MT 5591 non coding transcript exon variant G/A 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 2 2006 2009
dbSNP: rs121434458
rs121434458 		1.000 0.200 MT 5591 non coding transcript exon variant G/A snv
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434466
rs121434466 		1.000 MT 4269 non coding transcript exon variant A/G snv
CUI: C4016613
Disease: CARDIOMYOPATHY, FATAL
CARDIOMYOPATHY, FATAL 		0.700 0
dbSNP: rs121434467
rs121434467 		0.925 0.200 MT 4295 non coding transcript exon variant A/G snv
CUI: C3151897
Disease: DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs121434467
rs121434467 		0.925 0.200 MT 4295 non coding transcript exon variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434468
rs121434468 		0.925 0.200 MT 4284 non coding transcript exon variant G/A 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 2002 2002
dbSNP: rs121434468
rs121434468 		0.925 0.200 MT 4284 non coding transcript exon variant G/A snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs121434470
rs121434470 		1.000 0.080 MT 4300 non coding transcript exon variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs121434471
rs121434471 		1.000 0.200 MT 4291 non coding transcript exon variant T/C snv
CUI: C1839021
Disease: Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1569484022
rs1569484022 		1.000 0.120 MT 5667 non coding transcript exon variant G/A snv
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 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: 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