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: rs113993946
rs113993946
IDS
0.925 0.160 X 149482996 missense variant C/A;G;T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.810 1.000 2 1993 2015
dbSNP: rs104894853
rs104894853
IDS
1.000 0.160 X 149490322 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 22 1992 2014
dbSNP: rs104894856
rs104894856
IDS
1.000 0.160 X 149500977 missense variant G/C;T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 22 1992 2014
dbSNP: rs104894861
rs104894861
IDS
1.000 0.160 X 149503326 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 22 1992 2014
dbSNP: rs193302911
rs193302911
IDS
1.000 0.160 X 149503371 missense variant G/T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 22 1992 2014
dbSNP: rs113993949
rs113993949
IDS
1.000 0.160 X 149503477 missense variant C/T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2017
dbSNP: rs1557340280
rs1557340280
IDS
1.000 0.160 X 149503473 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 1995 2017
dbSNP: rs199422228
rs199422228
IDS
1.000 0.160 X 149482894 missense variant C/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2014
dbSNP: rs199422229
rs199422229
IDS
1.000 0.160 X 149483135 missense variant A/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2014
dbSNP: rs199422231
rs199422231
IDS
0.925 0.160 X 149482997 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 1992 2017
dbSNP: rs398123249
rs398123249
IDS
1.000 0.160 X 149503468 missense variant G/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2014
dbSNP: rs864622773
rs864622773
IDS
1.000 0.160 X 149482966 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2014
dbSNP: rs864622779
rs864622779
IDS
1.000 0.160 X 149498202 missense variant C/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.800 1.000 2 2012 2014
dbSNP: rs145807417
rs145807417
IDS
1.000 0.160 X 149490395 missense variant T/C snv 1.3E-03 4.8E-03
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006
dbSNP: rs146458524
rs146458524
IDS
1.000 0.160 X 149496471 missense variant C/A;T snv 1.6E-05; 3.1E-03
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006
dbSNP: rs193302905
rs193302905
IDS
1.000 0.160 X 149498129 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006
dbSNP: rs193302909
rs193302909
IDS
1.000 0.160 X 149504210 missense variant T/C snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006
dbSNP: rs201048643
rs201048643
IDS
1.000 0.160 X 149490383 missense variant G/A snv 9.8E-05 5.7E-05
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006
dbSNP: rs398123250
rs398123250
IDS
1.000 0.160 X 149498228 missense variant A/G snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 1.000 20 1992 2006
dbSNP: rs1085308006
rs1085308006
IDS
1.000 0.160 X 149496419 missense variant T/A snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 0
dbSNP: rs113993954
rs113993954
IDS
1.000 0.160 X 149504185 missense variant C/T snv
CUI: C0026705
Disease: Mucopolysaccharidosis II
Mucopolysaccharidosis II
0.700 0