PQBP1, polyglutamine binding protein 1, 10084

N. diseases: 118; N. variants: 7
Disease: Partial 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: rs1047322213
rs1047322213 		1.000 0.120 X 48902470 missense variant G/A snv
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018