Disease: Absent corpus callosum cataract immunodeficiency ×
Source: ALL
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: rs587776942
rs587776942 		1.000 0.160 18 45867742 stop gained G/A snv 1.7E-05
CUI: C1855772
Disease: Absent corpus callosum cataract immunodeficiency
Absent corpus callosum cataract immunodeficiency 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.700 1.000 1 2013 2013