FLG-AS1, FLG antisense RNA 1, 339400

N. diseases: 43; N. variants: 59
Disease: Cerebellar Hypoplasia ×
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: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0