SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Disease: Mental Retardation ×
Source: CLINVAR ×
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: rs794729221
rs794729221 		0.925 0.240 1 42929736 stop gained G/A snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0