MOGS, mannosyl-oligosaccharide glucosidase, 7841

N. diseases: 64; N. variants: 6
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: rs121909291
rs121909291 		1.000 0.080 2 74462332 missense variant C/G;T snv 2.0E-05
CUI: C1853736
Disease: Congenital Disorder Of Glycosylation, Type IIB
Congenital Disorder Of Glycosylation, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2000 2000
dbSNP: rs121909292
rs121909292 		1.000 0.080 2 74461835 missense variant A/G snv
CUI: C1853736
Disease: Congenital Disorder Of Glycosylation, Type IIB
Congenital Disorder Of Glycosylation, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2000 2000
dbSNP: rs863225089
rs863225089 		1.000 0.080 2 74464919 missense variant C/T snv 7.0E-06
CUI: C1853736
Disease: Congenital Disorder Of Glycosylation, Type IIB
Congenital Disorder Of Glycosylation, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777323
rs587777323 		0.925 0.080 2 74464705 stop gained G/A snv 1.6E-05 7.0E-05
CUI: C1853736
Disease: Congenital Disorder Of Glycosylation, Type IIB
Congenital Disorder Of Glycosylation, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs777654978
rs777654978 		1.000 0.080 2 74463320 frameshift variant C/- del 1.2E-05 2.1E-05
CUI: C1853736
Disease: Congenital Disorder Of Glycosylation, Type IIB
Congenital Disorder Of Glycosylation, Type IIB 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777323
rs587777323 		0.925 0.080 2 74464705 stop gained G/A snv 1.6E-05 7.0E-05
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
Congenital Disorder Of Glycosylation, Type In 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs587777323
rs587777323 		0.925 0.080 2 74464705 stop gained G/A snv 1.6E-05 7.0E-05
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs753961807
rs753961807 		2 74465183 missense variant G/C;T snv 1.5E-05
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs863225089
rs863225089 		1.000 0.080 2 74464919 missense variant C/T snv 7.0E-06
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016