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: rs387906831
rs387906831 		1.000 0.080 1 20654660 missense variant C/T snv
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs587776874
rs587776874 		1.000 0.080 1 20652464 frameshift variant AGTAGGGGTAGGCCGAGGGGAT/- delins
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs867045420
rs867045420 		1.000 0.080 1 20654614 missense variant C/A;G snv 1.2E-05
CUI: C3281084
Disease: Congenital disorder of glycosylation type 1r
Congenital disorder of glycosylation type 1r 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0