NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
Disease: Dysmorphic features ×
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: rs746006696
rs746006696 		0.925 0.120 17 42543997 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2005 2015
dbSNP: rs752131463
rs752131463 		1.000 17 42541070 frameshift variant C/- delins 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2005 2015