MAGT1, magnesium transporter 1, 84061

N. diseases: 120; N. variants: 8
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: rs1557217723
rs1557217723 		1.000 0.120 X 77875573 stop gained G/A snv
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569547876
rs1569547876 		1.000 X 77841252 stop gained G/A snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1569547876
rs1569547876 		1.000 X 77841252 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
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: rs1569547876
rs1569547876 		1.000 X 77841252 stop gained G/A snv
CUI: C2749206
Disease: Facial dysmorphism, mild
Facial dysmorphism, mild 		0.700 0
dbSNP: rs1569547878
rs1569547878 		1.000 0.120 X 77841305 stop gained A/C snv
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1569548146
rs1569548146 		1.000 0.120 X 77870849 frameshift variant -/A delins
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs200934080
rs200934080 		1.000 0.120 X 77895397 stop gained C/G;T snv 8.2E-05
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs373260156
rs373260156 		1.000 X 77830825 missense variant T/C;G snv 1.2E-05
CUI: C2749206
Disease: Facial dysmorphism, mild
Facial dysmorphism, mild 		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
dbSNP: rs373260156
rs373260156 		1.000 X 77830825 missense variant T/C;G snv 1.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs387906724
rs387906724 		1.000 0.120 X 77870885 stop gained G/A snv
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs782474570
rs782474570 		1.000 0.120 X 77895441 frameshift variant TT/- delins 1.3E-04
CUI: C3275445
Disease: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0