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: rs1805032
rs1805032
1.000 0.040 2 151839238 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy
Nervous System Diseases 0.020 1.000 2 2000 2012