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: rs879253748
rs879253748
0.882 0.040 5 161897251 frameshift variant C/- del
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy
Nervous System Diseases 0.700 0