FLG, filaggrin, 2312

N. diseases: 173; N. variants: 39
Disease: Dystonia, Paroxysmal ×
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: rs1218912272
rs1218912272 		0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06
CUI: C0393588
Disease: Dystonia, Paroxysmal
Dystonia, Paroxysmal 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0