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: rs387907181
rs387907181 		1.000 0.080 13 52024566 missense variant A/C snv
CUI: C3150913
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2010 2012
dbSNP: rs387907182
rs387907182 		1.000 0.080 13 52024872 missense variant T/C snv
CUI: C3150913
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2010 2012
dbSNP: rs387907183
rs387907183 		1.000 0.080 13 52024922 missense variant G/A snv
CUI: C3150913
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2010 2012
dbSNP: rs387907184
rs387907184 		1.000 0.080 13 52024683 missense variant A/C snv
CUI: C3150913
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2010 2012
dbSNP: rs387907180
rs387907180 		1.000 0.080 13 52024352 frameshift variant CTGTAGTGAAGAATCAAAAT/- delins
CUI: C3150913
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0