TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Disease: TUBEROUS SCLEROSIS 2 (disorder) ×
Source: CURATED ×
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: rs45517294
rs45517294 		1.000 0.120 16 2080197 missense variant G/A;T snv 2.4E-04
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 20 1996 2017