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: rs28939087
rs28939087 		1.000 0.080 11 45806240 missense variant C/T snv
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2001 2001
dbSNP: rs1554953926
rs1554953926 		1.000 0.080 11 45811241 missense variant C/A snv
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28937886
rs28937886 		1.000 0.080 11 45811163 missense variant C/G snv
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs398124345
rs398124345 		1.000 0.080 11 45805892 stop gained G/A;T snv
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587777655
rs587777655 		1.000 0.080 11 45806302 inframe deletion TCT/- delins
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs751828447
rs751828447 		1.000 0.080 11 45811112 missense variant C/G;T snv 8.0E-06
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0