MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: Abnormal cortical gyration ×
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: rs587777893
rs587777893 		0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2016 2016