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: rs370114048
rs370114048
0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016