rs148789453, 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 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.720 1.000 3 2004 2019
Hurler-Scheie Syndrome
CUI: C0086431
Disease: Hurler-Scheie Syndrome
20 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.720 1.000 2 2014 2019
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
31 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.700 1.000 3 2004 2014
Mental disorders
CUI: C0004936
Disease: Mental disorders
149 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.020 1.000 2 2014 2019