Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121965021
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.800 1.000 8 1993 2011
dbSNP: rs121965027
rs121965027
IDUA
0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.800 1.000 8 1993 2011
dbSNP: rs121965033
rs121965033
IDUA
0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.800 1.000 8 1993 2011
dbSNP: rs148789453
rs148789453
IDUA
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.720 1.000 0 2014 2019
dbSNP: rs121965031
rs121965031
IDUA
0.882 0.120 4 1004286 stop gained C/A;G;T snv 4.0E-06; 8.1E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs1281475543
rs1281475543
IDUA
1.000 0.120 4 1004307 missense variant T/A snv 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs369090960
rs369090960
IDUA
1.000 0.120 4 1001982 missense variant G/A;C snv 2.1E-05; 5.2E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs750496798
rs750496798
IDUA
1.000 0.120 4 1002383 missense variant C/T snv 8.3E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs762903007
rs762903007
IDUA
0.882 0.120 4 1002435 missense variant A/G snv 1.8E-05 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs772416503
rs772416503
IDUA
0.882 0.120 4 1003120 missense variant C/G;T snv 1.4E-05
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 1.000 8 1993 2011
dbSNP: rs200448421
rs200448421
IDUA
1.000 0.120 4 1004314 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 4.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 0
dbSNP: rs747981483
rs747981483
IDUA ; SLC26A1
1.000 0.120 4 987886 missense variant C/T snv 4.2E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 0
dbSNP: rs794727239
rs794727239
IDUA ; SLC26A1
1.000 0.120 4 987895 missense variant A/C snv 4.2E-06 7.0E-06
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 0
dbSNP: rs931627770
rs931627770
IDUA
0.925 0.120 4 1002811 missense variant C/A;T snv
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 0
dbSNP: rs992336192
rs992336192
IDUA
1.000 0.120 4 1001506 missense variant G/A;C snv
CUI: C0086431
Disease: Hurler-Scheie Syndrome
Hurler-Scheie Syndrome 		0.700 0