YARS1, tyrosyl-tRNA synthetase 1, 8565

N. diseases: 30; N. variants: 7
Disease: Charcot-Marie-Tooth Disease, Dominant Intermediate C ×
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