rs750496798, IDUA

N. diseases: 1
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.
Hurler-Scheie Syndrome
CUI: C0086431
Disease: Hurler-Scheie Syndrome
20 1.000 0.120 4 1002383 missense variant C/T snv 8.3E-06 0.700 1.000 8 1993 2011