rs991612107, IDUA

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
90 0.882 0.120 4 1002748 stop gained G/A snv 0.740 1.000 5 1996 2015
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
31 0.882 0.120 4 1002748 stop gained G/A snv 0.040 1.000 4 1992 2004
Bone Diseases, Developmental
CUI: C0005941
Disease: Bone Diseases, Developmental
2 0.882 0.120 4 1002748 stop gained G/A snv 0.010 1.000 1 2015 2015
Mucopolysaccharidosis V
CUI: C0026708
Disease: Mucopolysaccharidosis V
16 0.882 0.120 4 1002748 stop gained G/A snv 0.010 1.000 1 1993 1993