MAGT1, magnesium transporter 1, 84061

N. diseases: 120; N. variants: 8
Disease: Congenital Disorders of Glycosylation ×
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: rs1569547876
rs1569547876 		1.000 X 77841252 stop gained G/A snv
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs373260156
rs373260156 		1.000 X 77830825 missense variant T/C;G snv 1.2E-05
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0