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: rs121965019
rs121965019
IDUA
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.740 1.000 4 1992 2014
dbSNP: rs121965019
rs121965019
IDUA
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.740 1.000 4 1992 2016
dbSNP: rs121965019
rs121965019
IDUA
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.710 1.000 1 1992 2014
dbSNP: rs121965019
rs121965019
IDUA
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.010 1.000 1 2015 2015