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: 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: rs1057516943
rs1057516943 		1.000 0.080 16 8797909 stop gained C/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 0.700 0
dbSNP: rs949271895
rs949271895 		1.000 0.080 16 8797940 missense variant C/T snv 1.3E-05 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 0.700 0
dbSNP: rs1555495965
rs1555495965 		1.000 0.080 16 8797948 splice donor variant G/- delins
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 0.700 0
dbSNP: rs937726878
rs937726878 		0.882 0.240 16 8797949 splice donor variant G/T snv 1.4E-05 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 0.700 0
dbSNP: rs1555448897
rs1555448897 		1.000 0.080 16 8801797 splice acceptor variant A/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 0.700 0
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: rs104894533
rs104894533 		0.925 0.080 16 8801827 missense variant T/G snv 8.0E-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 0.700 0
dbSNP: rs1555448899
rs1555448899 		1.000 0.080 16 8801836 stop gained T/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 0.700 1.000 2 2008 2015
dbSNP: rs376754460
rs376754460 		0.807 0.280 16 8801859 missense variant G/A;C;T snv 8.0E-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 0.700 0
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: rs1555448922
rs1555448922 		1.000 0.080 16 8801912 splice donor variant T/G 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 0.700 0
dbSNP: rs1166138838
rs1166138838 		1.000 0.080 16 8804766 splice acceptor variant G/C;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 0.700 0
dbSNP: rs1057516815
rs1057516815 		1.000 0.080 16 8804773 frameshift variant A/- delins
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 0.700 0
dbSNP: rs1339004837
rs1339004837 		1.000 0.080 16 8804778 frameshift variant T/- del
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 0.700 1.000 1 2017 2017
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: rs1318611010
rs1318611010 		0.925 0.120 16 8804787 missense variant G/A snv 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 0.700 0
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: rs1440183322
rs1440183322 		1.000 0.080 16 8804815 missense variant A/G 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 0.700 0
dbSNP: rs1060499598
rs1060499598 		1.000 0.080 16 8804844 splice donor variant G/A snv 1.2E-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 0.700 1.000 2 2005 2009
dbSNP: rs139716296
rs139716296 		1.000 0.080 16 8804845 splice donor variant T/C snv 6.8E-05 7.0E-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 0.700 1.000 8 1999 2014
dbSNP: rs1057516372
rs1057516372 		1.000 0.080 16 8806314 splice acceptor variant A/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 0.700 0
dbSNP: rs757394782
rs757394782 		1.000 0.080 16 8806315 splice acceptor variant G/C snv 1.2E-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 0.700 0
dbSNP: rs769839273
rs769839273 		1.000 0.080 16 8806363 missense variant C/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 0.700 1.000 14 1997 2007
dbSNP: rs770458492
rs770458492 		1.000 0.080 16 8806370 missense variant C/G snv 1.2E-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 0.710 1.000 14 1997 2007