TSC1, TSC complex subunit 1, 7248

N. diseases: 391; N. variants: 155
Disease: Lymphangioleiomyomatosis ×
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: rs118203427
rs118203427 		0.882 0.200 9 132921418 stop gained G/A snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0