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
dbSNP: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.730 1.000 3 1992 2016
dbSNP: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.710 1.000 1 1998 1998
dbSNP: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0342643
Disease: Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive hypophosphatemic vitamin D refractory rickets 		0.010 1.000 1 2014 2014
dbSNP: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.010 1.000 1 2014 2014
dbSNP: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C3494976
Disease: Migrating partial seizures in infancy
Migrating partial seizures in infancy 		0.010 1.000 1 2011 2011