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