MANBA, mannosidase beta, 4126

N. diseases: 38; N. variants: 58
Disease: beta-Mannosidosis ×
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: rs121434334
rs121434334 		1.000 0.080 4 102657873 missense variant A/G snv
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1998 2019
dbSNP: rs374377679
rs374377679 		1.000 0.080 4 102722876 missense variant G/A snv 2.8E-05 2.1E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2008 2008
dbSNP: rs763849774
rs763849774 		1.000 0.080 4 102690752 stop gained C/T snv 2.1E-05 2.1E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2007 2011
dbSNP: rs772852668
rs772852668 		1.000 0.080 4 102635047 splice acceptor variant T/C snv 2.4E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2019
dbSNP: rs374545788
rs374545788 		1.000 0.080 4 102664853 splice acceptor variant C/A snv 3.6E-05 7.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1998 2002
dbSNP: rs1188116333
rs1188116333 		1.000 0.080 4 102664715 frameshift variant TA/- delins 1.2E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2002 2002
dbSNP: rs121434335
rs121434335 		1.000 0.080 4 102726614 stop gained C/A;G;T snv 4.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121434336
rs121434336 		1.000 0.080 4 102669004 stop gained G/A;C snv 1.6E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs752343321
rs752343321 		1.000 0.080 4 102714538 stop gained -/TCCCAACTAA delins 1.6E-05 1.4E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs771587242
rs771587242 		1.000 0.080 4 102723865 synonymous variant T/C snv 2.4E-05 1.4E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs775574131
rs775574131 		1.000 0.080 4 102657845 frameshift variant CA/- delins 8.0E-06 7.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs890870104
rs890870104 		1.000 0.080 4 102689573 splice donor variant C/T snv 1.2E-05 1.4E-05
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs764950128
rs764950128 		1.000 0.080 4 102671339 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4048196
Disease: beta-Mannosidosis
beta-Mannosidosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008