TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Fibrous skin tumor of tuberous sclerosis ×
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: rs45517305
rs45517305 		0.851 0.240 16 2081646 stop gained C/A;T snv
CUI: C0265319
Disease: Fibrous skin tumor of tuberous sclerosis
Fibrous skin tumor of tuberous sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 1998 1998