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: rs121909501
rs121909501
1.000 0.120 3 46579986 missense variant C/T snv 1.6E-04 1.9E-04
CUI: C1861235
Disease: Forebrain Defects
Forebrain Defects
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders 0.700 0