ASAH1, N-acylsphingosine amidohydrolase 1, 427

N. diseases: 176; N. variants: 21
Disease: Epilepsy, Generalized ×
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: rs200455852
rs200455852 		0.851 0.200 8 18064458 missense variant T/C;G snv 5.8E-05
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized 		Nervous System Diseases 0.700 0