IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs3755955
rs3755955
0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06
CUI: C0005938
Disease: Bone Density
Bone Density
0.700 1.000 1 2012 2012
dbSNP: rs6831280
rs6831280
0.925 0.080 4 1002377 missense variant G/A;C snv 0.17
CUI: C0005938
Disease: Bone Density
Bone Density
0.700 1.000 1 2018 2018