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: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.830 1.000 14 1992 2016
dbSNP: rs121965024
rs121965024
IDUA
1.000 0.120 4 1002392 missense variant A/C snv 4.3E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2013
dbSNP: rs1430681871
rs1430681871
IDUA
1.000 0.120 4 1001712 missense variant G/A snv 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2013
dbSNP: rs199801029
rs199801029
IDUA
0.925 0.120 4 1002275 missense variant G/C snv 6.6E-05 7.7E-05
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2016
dbSNP: rs794727896
rs794727896
IDUA
1.000 0.120 4 1002459 missense variant C/A;G;T snv 6.5E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.800 1.000 14 1992 2013
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: rs121965026
rs121965026
IDUA
0.925 0.120 4 1003108 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.800 1.000 8 1993 2015
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: rs121965029
rs121965029
IDUA ; SLC26A1
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.730 1.000 8 1993 2019
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: rs1553917309
rs1553917309
IDUA
1.000 0.120 4 1002450 missense variant C/G snv
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013
dbSNP: rs368454909
rs368454909
IDUA
1.000 0.120 4 1002341 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013
dbSNP: rs558683362
rs558683362
IDUA
1.000 0.120 4 1000895 missense variant G/A;C snv 4.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013
dbSNP: rs754154200
rs754154200
IDUA
1.000 0.120 4 1001518 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086795
Disease: Pfaundler-Hurler Syndrome
Pfaundler-Hurler Syndrome 		0.700 1.000 14 1992 2013
dbSNP: rs121965027
rs121965027
IDUA
0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
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: rs1230234600
rs1230234600
IDUA
1.000 0.120 4 1001745 missense variant G/A;C snv
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
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: rs754949360
rs754949360
IDUA
0.925 0.120 4 1002444 missense variant G/A snv 3.3E-05 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
dbSNP: rs754966840
rs754966840
IDUA ; SLC26A1
0.925 0.120 4 987915 missense variant C/T snv 1.4E-05
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
dbSNP: rs762903007
rs762903007
IDUA
0.882 0.120 4 1002435 missense variant A/G snv 1.8E-05 7.0E-06
CUI: C0026708
Disease: Mucopolysaccharidosis V
Mucopolysaccharidosis V 		0.700 1.000 8 1993 2015
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