TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
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: rs1057518945
rs1057518945 		1.000 0.120 9 132921824 frameshift variant C/- delins
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 0.700 0