Disease: Congenital disorder of glycosylation type 1w ×
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: rs587777216
rs587777216 		1.000 0.080 11 125618475 missense variant T/C snv
CUI: C3810062
Disease: Congenital disorder of glycosylation type 1w
Congenital disorder of glycosylation type 1w 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013