Disease: Hemimegalencephaly ×
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: rs1057519925
rs1057519925 		0.683 0.560 3 179210291 missense variant G/A;C snv
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0