AAR2, AAR2 splicing factor, 25980

N. diseases: 13; N. variants: 5
Disease: Hypoplasia of corpus callosum ×
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: rs746800707
rs746800707 		0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0