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.
Mucopolysaccharidosis V
CUI: C0026708
Disease: Mucopolysaccharidosis V
16 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.730 1.000 10 1993 2019
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
90 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.710 1.000 1 1996 1996
Mucopolysaccharidosis I
CUI: C0023786
Disease: Mucopolysaccharidosis I
31 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.700 1.000 4 1996 2012
Hurler-Scheie Syndrome
CUI: C0086431
Disease: Hurler-Scheie Syndrome
20 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.700 0