FLG, filaggrin, 2312

N. diseases: 173; N. variants: 39
Disease: Seizures ×
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: rs558269137
rs558269137 		0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs61816761
rs61816761 		0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0