Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121965021
IDUA
0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 7
rs121965020
SLC26A1 ; IDUA
0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 6
rs121907953
HEXA
0.851 0.160 15 72353106 missense variant G/A snv 2.0E-05 5
rs121965019
IDUA
0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04 5
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
rs267606862
HEXA
0.882 0.160 15 72346681 stop gained C/T snv 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
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
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
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
rs387906504
IDUA
0.925 0.120 4 1004391 stop lost T/G snv 2
rs764196171
IDUA
0.925 0.120 4 1002325 stop gained C/A;G snv 4.0E-06 2
rs777295041
IDUA
0.925 0.120 4 1000880 splice acceptor variant A/G snv 3.6E-05 1.4E-05 2
rs779762183
IDUA
0.925 0.120 4 1002063 protein altering variant -/CCCCCATTTACA delins 9.5E-06 7.0E-06 2
rs786200915
IDUA
0.925 0.120 4 1001700 frameshift variant -/TGCTC delins 2
rs869025584
IDUA
0.925 0.120 4 1001742 missense variant T/C snv 8.9E-06 1.4E-05 2
rs754966840
SLC26A1 ; IDUA
0.925 0.120 4 987915 missense variant C/T snv 1.4E-05 2