BORCS5, BLOC-1 related complex subunit 5, 118426

N. diseases: 12; N. variants: 2
Disease: Agenesis 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: rs1555155556
rs1555155556 		0.851 0.120 12 12435627 splice acceptor variant G/T snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0