rs121965033, IDUA

N. diseases: 3
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.
Hurler-Scheie Syndrome
CUI: C0086431
Disease: Hurler-Scheie Syndrome
20 0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06 0.800 1.000 8 1993 2011
Pfaundler-Hurler Syndrome
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
90 0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06 0.700 1.000 3 2000 2016
Congenital heart disease
CUI: C0152021
Disease: Congenital heart disease
80 0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2020 2020