MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 765; N. variants: 17
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
Source: BEFREE ×
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: rs1085307113
rs1085307113 		1.000 0.080 1 11114338 missense variant A/G;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.810 1.000 1 2015 2015