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: rs104894489
rs104894489 		1.000 0.080 15 74893306 missense variant G/A;C snv 2.9E-04
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 0.800 1.000 12 1998 2017
dbSNP: rs104894494
rs104894494 		1.000 0.080 15 74891539 missense variant C/T 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 0.800 1.000 7 1998 2002
dbSNP: rs104894495
rs104894495 		1.000 0.080 15 74892728 missense variant T/C 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 0.800 1.000 7 1998 2002
dbSNP: rs863225087
rs863225087 		1.000 0.080 15 74897711 missense variant G/A snv 8.0E-06 7.0E-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 0.800 1.000 7 1998 2002
dbSNP: rs566620411
rs566620411 		1.000 0.080 15 74892706 missense variant G/A snv 1.2E-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 0.710 1.000 1 2001 2001
dbSNP: rs369326210
rs369326210 		1.000 0.080 15 74897651 missense variant T/A;C snv 2.4E-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 1.000 7 1998 2002
dbSNP: rs764835081
rs764835081 		1.000 0.080 15 74891386 start lost T/C 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 1.000 7 1998 2002
dbSNP: rs766458792
rs766458792 		1.000 0.080 15 74892770 missense variant G/A;T snv 2.4E-05; 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 1.000 7 1998 2002
dbSNP: rs786204593
rs786204593 		1.000 0.080 15 74891395 frameshift variant -/C 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 1.000 2 2000 2008
dbSNP: rs1127796
rs1127796 		15 74900663 3 prime UTR variant T/C snv 0.38
CUI: C0233849
Disease: Personality Traits
Personality Traits 		Behavior and Behavior Mechanisms 0.700 1.000 1 2012 2012
dbSNP: rs1130741
rs1130741 		15 74897589 synonymous variant A/G snv 0.44 0.45
CUI: C0233849
Disease: Personality Traits
Personality Traits 		Behavior and Behavior Mechanisms 0.700 1.000 1 2012 2012
dbSNP: rs7495739
rs7495739 		15 74893329 missense variant A/G;T snv 0.44; 1.2E-05
CUI: C0233849
Disease: Personality Traits
Personality Traits 		Behavior and Behavior Mechanisms 0.700 1.000 1 2012 2012
dbSNP: rs759579169
rs759579169 		1.000 0.080 15 74893137 splice acceptor variant G/A;C 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 1.000 1 2000 2000
dbSNP: rs1057516424
rs1057516424 		1.000 0.080 15 74893302 stop gained A/T snv 7.0E-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: rs1057516466
rs1057516466 		1.000 0.080 15 74890630 frameshift variant C/- 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: rs1057516550
rs1057516550 		1.000 0.080 15 74892804 splice donor variant T/- del 8.0E-06 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: rs1057516573
rs1057516573 		1.000 0.080 15 74891378 splice acceptor variant G/A;C 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: rs1057517115
rs1057517115 		1.000 0.080 15 74896220 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: rs1394866894
rs1394866894 		1.000 0.080 15 74896326 splice donor variant G/A 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: rs1452559752
rs1452559752 		1.000 0.080 15 74890086 stop gained C/T snv 7.0E-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: rs1555478015
rs1555478015 		1.000 0.080 15 74890072 start lost CATG/- 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: rs1555478118
rs1555478118 		1.000 0.080 15 74890596 frameshift variant TGTTGGCCAGCAGTGATCCACTGGC/- 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: rs1555478333
rs1555478333 		1.000 0.080 15 74891580 splice donor variant G/A 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: rs1555478582
rs1555478582 		1.000 0.080 15 74893184 frameshift variant C/- 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: 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