YARS1, tyrosyl-tRNA synthetase 1, 8565

N. diseases: 30; N. variants: 7
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: rs121908834
rs121908834 		1.000 0.080 1 32797768 missense variant C/G;T snv
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 6 2003 2016
dbSNP: rs121908833
rs121908833 		1.000 0.080 1 32810994 missense variant C/T snv
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs786200893
rs786200893 		1.000 0.080 1 32806523 inframe deletion GCTTTACCACCT/- delins
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs786204003
rs786204003 		1.000 0.080 1 32810729 missense variant TC/AT mnv
CUI: C1842237
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Dominant Intermediate C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs745530646
rs745530646 		0.925 0.200 1 32810956 frameshift variant A/- delins 4.0E-06 7.0E-06
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2010 2013
dbSNP: rs775505592
rs775505592 		0.925 0.200 1 32810956 missense variant A/T snv 4.0E-06; 4.0E-06
CUI: C1838103
Disease: MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2010 2013
dbSNP: rs1279417718
rs1279417718 		1 32806493 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs1279417718
rs1279417718 		1 32806493 missense variant G/T snv 4.0E-06 7.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs745530646
rs745530646 		0.925 0.200 1 32810956 frameshift variant A/- delins 4.0E-06 7.0E-06
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.010 1.000 1 2018 2018
dbSNP: rs775505592
rs775505592 		0.925 0.200 1 32810956 missense variant A/T snv 4.0E-06; 4.0E-06
CUI: C3150802
Disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2 		0.010 1.000 1 2018 2018