Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs369090960
rs369090960
IDUA
1.000 0.120 4 1001982 missense variant G/A;C snv 2.1E-05; 5.2E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011