MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: Macrocephaly ×
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: rs863225264
rs863225264 		0.827 0.240 1 11130747 missense variant C/T snv
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.020 1.000 2 2015 2016