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: rs202080674
rs202080674
0.851 0.160 10 49482848 missense variant G/A snv 8.0E-06
CUI: C0025958
Disease: Microcephaly
Microcephaly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2014 2014