SLC25A1, solute carrier family 25 member 1, 6576

N. diseases: 168; N. variants: 15
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: rs431905509
rs431905509 		0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05
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