Disease: Congenital disorder of glycosylation type 2E ×
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: rs1555493029
rs1555493029 		0.851 0.240 16 23406263 splice acceptor variant C/A snv
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555496968
rs1555496968 		1.000 0.080 16 23445968 splice region variant T/C snv
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555497568
rs1555497568 		1.000 0.080 16 23452822 splice region variant T/G snv
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555497604
rs1555497604 		0.851 0.240 16 23452993 start lost A/G snv
CUI: C2931010
Disease: Congenital disorder of glycosylation type 2E
Congenital disorder of glycosylation type 2E 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0