PUS1, pseudouridine synthase 1, 80324

N. diseases: 43; N. variants: 8
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 ×
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: rs104894371
rs104894371 		1.000 0.200 12 131932301 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C4551958
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.800 1.000 3 2004 2010
dbSNP: rs104894372
rs104894372 		1.000 0.200 12 131941405 stop gained G/T snv
CUI: C4551958
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs1566148136
rs1566148136 		1.000 0.200 12 131941558 frameshift variant C/- delins
CUI: C4551958
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs779651314
rs779651314 		1.000 0.200 12 131941464 stop gained C/A snv 7.0E-06
CUI: C4551958
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs869025309
rs869025309 		1.000 0.200 12 131941630 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C4551958
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0