FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: FG SYNDROME 2 ×
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: rs137853319
rs137853319 		0.925 0.160 X 154359839 missense variant G/A snv 2.7E-04 2.3E-04
CUI: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases 0.700 1.000 1 2007 2007