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: rs878853254
rs878853254
1.000 0.080 22 18121455 frameshift variant GTTGCTTCCCTCTC/- delins
Polymicrogyria With Optic Nerve Hypoplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0