TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: 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: rs865808591
rs865808591 		1.000 0.120 9 132904435 missense variant A/G snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017