Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518644
HGSNAT
0.925 0.120 8 43192413 stop gained C/T snv 10
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 7
rs1060499681
GNPTAB
0.882 0.200 12 101764303 frameshift variant C/- del 6
rs751953529
GNPTAB
0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 6
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs121965019
IDUA
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04 5
rs1060499684
GNPTAB
0.882 0.200 12 101753525 frameshift variant A/- del 4
rs148789453
IDUA
0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 4
rs991612107
IDUA
0.882 0.120 4 1002748 stop gained G/A snv 4
rs121965029
SLC26A1 ; IDUA
0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 4
rs121965027
IDUA
0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06 3
rs121965031
IDUA
0.882 0.120 4 1004286 stop gained C/A;G;T snv 4.0E-06; 8.1E-06 3
rs121965032
IDUA
0.882 0.120 4 1002387 missense variant C/T snv 3
rs121965033
IDUA
0.925 0.120 4 1002333 missense variant T/C;G snv 4.0E-06 3
rs746766617
IDUA
0.882 0.120 4 1002340 missense variant C/G snv 4.0E-06 3
rs762411583
IDUA
0.882 0.120 4 1001672 splice region variant G/A;C snv 4.3E-06 3
rs762903007
IDUA
0.882 0.120 4 1002435 missense variant A/G snv 1.8E-05 7.0E-06 3
rs772416503
IDUA
0.882 0.120 4 1003120 missense variant C/G;T snv 1.4E-05 3
rs121965025
IDUA
0.925 0.120 4 1004292 stop gained C/G;T snv 2.8E-04; 2.8E-05 2
rs121965026
IDUA
0.925 0.120 4 1003108 missense variant G/A;C snv 2
rs1340421020
IDUA
0.925 0.120 4 1002752 stop gained G/C;T snv 2
rs1553917428
IDUA
0.925 0.120 4 1002946 splice donor variant T/G snv 2
rs1553917754
IDUA
0.925 0.120 4 1004321 frameshift variant C/- delins 2
rs199801029
IDUA
0.925 0.120 4 1002275 missense variant G/C snv 6.6E-05 7.7E-05 2
rs754949360
IDUA
0.925 0.120 4 1002444 missense variant G/A snv 3.3E-05 7.0E-06 2