rs1244655820, NAGLU

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
MPS III B
CUI: C0086648
Disease: MPS III B
92 0.925 0.120 17 42543603 stop gained C/T snv 7.0E-06 0.700 1.000 1 2008 2008
Mucopolysaccharidosis III
CUI: C0026706
Disease: Mucopolysaccharidosis III
15 0.925 0.120 17 42543603 stop gained C/T snv 7.0E-06 0.700 0