Disease: Schwannomatosis ×
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: rs1060503016
rs1060503016 		0.925 0.240 22 23791814 stop gained G/A snv
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060503017
rs1060503017 		0.925 0.240 22 23825398 frameshift variant GAAGACCT/- del
CUI: C1335929
Disease: Schwannomatosis
Schwannomatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases; Nervous System Diseases 0.700 0