TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×
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: rs45517395
rs45517395 		0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0