MPI, mannose phosphate isomerase, 4351

N. diseases: 101; N. variants: 34
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: rs1555478606
rs1555478606 		1.000 0.080 15 74893279 frameshift variant T/- del
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555479227
rs1555479227 		1.000 0.080 15 74896283 frameshift variant AT/- del
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555479341
rs1555479341 		1.000 0.080 15 74897009 splice acceptor variant A/- del
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1555479351
rs1555479351 		1.000 0.080 15 74897045 frameshift variant -/G delins
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28928906
rs28928906 		1.000 0.080 15 74897050 missense variant G/A snv 3.2E-05 2.8E-05
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs749911553
rs749911553 		1.000 0.080 15 74896208 stop gained C/T snv 4.0E-06
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs773678732
rs773678732 		1.000 0.080 15 74892734 missense variant T/C snv 1.2E-05 2.1E-05
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs863225086
rs863225086 		1.000 0.080 15 74897663 missense variant A/G snv
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs887249336
rs887249336 		1.000 0.080 15 74892701 missense variant A/G snv 8.0E-06
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0