ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
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: 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: rs1131692064
rs1131692064 		MT 7989 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118192098
rs118192098 		0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs118192098
rs118192098 		0.851 0.200 MT 8344 non coding transcript exon variant A/G snv
CUI: C1838867
Disease: PARKINSON DISEASE, MITOCHONDRIAL (disorder)
PARKINSON DISEASE, MITOCHONDRIAL (disorder) 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 0
dbSNP: rs118192099
rs118192099 		0.882 0.200 MT 8356 non coding transcript exon variant T/C 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: 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: 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: 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: 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: rs1556423388
rs1556423388 		1.000 0.080 MT 8087 frameshift variant T/- delins
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1556423547
rs1556423547 		1.000 0.120 MT 8839 missense variant G/A;C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		Nutritional and Metabolic 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
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: 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