Source: BEFREE ×
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
11 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.740 1.000 4 1992 2013
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
7 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.730 1.000 3 1992 2014
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
153 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
62 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.010 1.000 1 2006 2006