PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Disease: Congenital disorder of glycosylation type 1A ×
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: rs80338701
rs80338701 		0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 17 1997 2013
dbSNP: rs80338703
rs80338703 		1.000 0.080 16 8811146 missense variant G/A snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.820 1.000 15 1997 2007
dbSNP: rs78290141
rs78290141 		1.000 0.080 16 8847731 missense variant A/G;T snv 2.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 15 1997 2007
dbSNP: rs141498002
rs141498002 		0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 22 1997 2015
dbSNP: rs80338709
rs80338709 		0.925 0.080 16 8847806 missense variant G/C snv 6.0E-05 2.7E-04
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 21 1997 2015
dbSNP: rs104894527
rs104894527 		1.000 0.080 16 8804781 missense variant G/T snv 7.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1997 2011
dbSNP: rs150577656
rs150577656 		1.000 0.080 16 8811648 stop gained T/A;C;G snv 1.6E-05; 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1997 2014
dbSNP: rs398123312
rs398123312 		0.925 0.080 16 8801827 missense variant TA/GC mnv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 19 1997 2015
dbSNP: rs80338708
rs80338708 		1.000 0.080 16 8847794 missense variant C/G;T snv 1.3E-04; 4.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 19 1997 2016
dbSNP: rs150719105
rs150719105 		1.000 0.080 16 8811161 missense variant T/C snv 1.6E-04 6.3E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1997 2017
dbSNP: rs80338700
rs80338700 		0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1997 2015
dbSNP: rs104894534
rs104894534 		1.000 0.080 16 8801863 missense variant T/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 17 1997 2015
dbSNP: rs80338704
rs80338704 		1.000 0.080 16 8813030 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 17 1997 2008
dbSNP: rs80338707
rs80338707 		0.925 0.080 16 8847775 missense variant G/A;C snv 6.8E-05; 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 17 1997 2016
dbSNP: rs104894525
rs104894525 		1.000 0.080 16 8811116 missense variant G/A;T snv 1.0E-05; 5.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1997 2015
dbSNP: rs104894526
rs104894526 		1.000 0.080 16 8811674 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1997 2011
dbSNP: rs148032587
rs148032587 		0.925 0.080 16 8811173 missense variant G/A snv 1.6E-04 1.3E-04
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1997 2011
dbSNP: rs746610168
rs746610168 		1.000 0.080 16 8811152 missense variant C/T snv 2.1E-05 3.5E-05
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1997 2015
dbSNP: rs769648248
rs769648248 		1.000 0.080 16 8804793 missense variant C/G;T snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1997 2012
dbSNP: rs104894530
rs104894530 		1.000 0.080 16 8811080 missense variant G/C snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs104894531
rs104894531 		1.000 0.080 16 8847753 missense variant C/G;T snv
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs104894532
rs104894532 		1.000 0.080 16 8797908 missense variant G/A;T snv 4.1E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs80338702
rs80338702 		1.000 0.080 16 8811126 missense variant T/C snv 9.9E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs80338705
rs80338705 		1.000 0.080 16 8847737 missense variant A/G;T snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007
dbSNP: rs80338706
rs80338706 		1.000 0.080 16 8847761 missense variant C/G snv 4.0E-06
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 14 1997 2007