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: rs730882223
rs730882223
0.851 0.120 1 184054736 missense variant T/G snv
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0