Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii ×
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: rs387906281
rs387906281 		1.000 0.080 9 99218145 frameshift variant C/- delins 4.4E-05 7.7E-05
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs730880304
rs730880304 		1.000 0.080 9 99218792 missense variant C/A snv
CUI: C1842836
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0