rs368687817, 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 1.000 0.120 17 42543079 missense variant C/T snv 3.3E-05 4.2E-05 0.700 1.000 15 1998 2017
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
8 1.000 0.120 17 42543079 missense variant C/T snv 3.3E-05 4.2E-05 0.010 1.000 1 2018 2018