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: rs1567782714
rs1567782714
0.882 0.120 16 57655528 stop gained C/T snv
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs587776625
rs587776625
0.851 0.080 16 57654103 frameshift variant CAGGACC/- delins
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0