TMEM70, transmembrane protein 70, 54968

N. diseases: 83; N. variants: 4
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: rs183973249
rs183973249 		1.000 0.120 8 73981153 splice acceptor variant A/G;T snv 7.2E-05
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 5 2008 2015
dbSNP: rs796052056
rs796052056 		0.882 0.240 8 73976397 frameshift variant -/GT delins
CUI: C4757950
Disease: Isolated ATP synthase deficiency
Isolated ATP synthase deficiency 		0.700 1.000 4 2008 2015
dbSNP: rs796052056
rs796052056 		0.882 0.240 8 73976397 frameshift variant -/GT delins
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 3 2008 2014
dbSNP: rs796052056
rs796052056 		0.882 0.240 8 73976397 frameshift variant -/GT delins
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 2008 2014
dbSNP: rs1554599411
rs1554599411 		1.000 0.120 8 73981211 frameshift variant -/T delins
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387907070
rs387907070 		1.000 0.120 8 73978783 stop gained C/T snv 1.4E-05
CUI: C3279699
Disease: Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0