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 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.740 1.000 10 1992 2013
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
31 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.730 1.000 17 1992 2014
Hurler-Scheie Syndrome
CUI: C0086431
Disease: Hurler-Scheie Syndrome
20 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.700 1.000 5 1992 2018
Mucopolysaccharidosis V
CUI: C0026708
Disease: Mucopolysaccharidosis V
16 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.700 1.000 3 1992 2013
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
98 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006