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: rs572427454
rs572427454
0.882 0.080 15 26560943 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2019 2019