rs86312, 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 42544215 missense variant C/A;G;T snv 1.8E-02; 0.91; 8.1E-06 0.010 1.000 1 2019 2019
Mucopolysaccharidosis Type IIIA
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
69 0.925 0.120 17 42544215 missense variant C/A;G;T snv 1.8E-02; 0.91; 8.1E-06 0.010 1.000 1 2019 2019