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: rs1430681871
rs1430681871
IDUA
1.000 0.120 4 1001712 missense variant G/A snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2013