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: rs121965019
rs121965019
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.740 1.000 17 1992 2016
dbSNP: rs121965020
rs121965020
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 17 1992 2014
dbSNP: rs121965021
rs121965021
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.730 1.000 12 1992 2016
dbSNP: rs754966840
rs754966840
0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.710 1.000 8 1995 2014
dbSNP: rs199801029
rs199801029
0.925 0.120 4 1002275 missense variant G/C snv 6.6E-05 7.7E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 10 1995 2014
dbSNP: rs777295041
rs777295041
0.925 0.120 4 1000880 splice acceptor variant A/G snv 3.6E-05 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 7 1994 2017
dbSNP: rs398123260
rs398123260
1.000 0.120 4 987119 inframe insertion TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC delins 4.9E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 6 1994 2012
dbSNP: rs779762183
rs779762183
0.925 0.120 4 1002063 protein altering variant -/CCCCCATTTACA delins 9.5E-06 7.0E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1998 2013
dbSNP: rs794726877
rs794726877
0.925 0.120 4 987236 missense variant G/A snv 9.2E-06 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 5 1994 2011
dbSNP: rs121965029
rs121965029
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 2012
dbSNP: rs121965032
rs121965032
0.882 0.120 4 1002387 missense variant C/T snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1997 2011
dbSNP: rs1340421020
rs1340421020
0.925 0.120 4 1002752 stop gained G/C;T snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1995 2014
dbSNP: rs148789453
rs148789453
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2004 2014
dbSNP: rs746766617
rs746766617
0.882 0.120 4 1002340 missense variant C/G snv 4.0E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 2011 2014
dbSNP: rs786200915
rs786200915
0.925 0.120 4 1001700 frameshift variant -/TGCTC delins
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2017
dbSNP: rs121965025
rs121965025
0.925 0.120 4 1004292 stop gained C/G;T snv 2.8E-04; 2.8E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 1994 2013
dbSNP: rs1264013707
rs1264013707
1.000 0.120 4 987243 splice donor variant G/A snv 9.0E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2012
dbSNP: rs1553917428
rs1553917428
0.925 0.120 4 1002946 splice donor variant T/G snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2012
dbSNP: rs772416503
rs772416503
0.882 0.120 4 1003120 missense variant C/G;T snv 1.4E-05
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 2 2001 2011
dbSNP: rs121965031
rs121965031
0.882 0.120 4 1004286 stop gained C/A;G;T snv 4.0E-06; 8.1E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2001 2001
dbSNP: rs1553917754
rs1553917754
0.925 0.120 4 1004321 frameshift variant C/- delins
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2011 2011
dbSNP: rs398123258
rs398123258
1.000 0.120 4 1004083 frameshift variant C/- del
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 2013 2013
dbSNP: rs762411583
rs762411583
0.882 0.120 4 1001672 splice region variant G/A;C snv 4.3E-06
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 1 1993 1993
dbSNP: rs1553917209
rs1553917209
1.000 0.120 4 1002065 frameshift variant C/- del
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906504
rs387906504
0.925 0.120 4 1004391 stop lost T/G snv
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0