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: rs1057519087
rs1057519087
0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015