MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U ×
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: rs781249411
rs781249411 		0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.800 1.000 2 2013 2014
dbSNP: rs587777718
rs587777718 		1.000 12 57512849 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4084821
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U 		0.700 1.000 2 2013 2014