Source: BEFREE

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: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.830 1.000 3 1992 2016