Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894635
rs104894635
SGSH
4 0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 0.820 1.000 27 1997 2017
dbSNP: rs138504221
rs138504221
SGSH
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.820 1.000 19 1997 2017
dbSNP: rs104894641
rs104894641
SGSH
1 1.000 0.120 17 80210663 missense variant C/T snv 1.2E-05 7.0E-06 0.810 1.000 24 1997 2017
dbSNP: rs104894636
rs104894636
SGSH
2 1.000 0.120 17 80217061 missense variant G/A snv 1.5E-04 2.0E-04 0.810 1.000 23 1997 2017
dbSNP: rs761607612
rs761607612
SGSH
1 1.000 0.120 17 80214757 missense variant C/T snv 1.6E-05 0.800 1.000 26 1997 2017
dbSNP: rs104894639
rs104894639
SGSH
3 0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05 0.800 1.000 23 1997 2017
dbSNP: rs104894638
rs104894638
SGSH
1 1.000 0.120 17 80214672 missense variant C/T snv 2.0E-05 7.0E-06 0.800 1.000 22 1997 2017
dbSNP: rs104894640
rs104894640
SGSH
1 1.000 0.120 17 80210856 stop gained C/A;G;T snv 4.0E-06; 4.0E-06; 4.0E-06 0.800 1.000 21 1997 2017
dbSNP: rs104894643
rs104894643
SGSH
1 1.000 0.120 17 80214218 missense variant C/G;T snv 4.1E-06 0.800 1.000 20 1997 2017
dbSNP: rs144143780
rs144143780
SGSH
1 1.000 0.120 17 80210822 missense variant T/C snv 3.2E-05 2.8E-05 0.800 1.000 20 1997 2017
dbSNP: rs777267343
rs777267343
SGSH
1 1.000 0.120 17 80210664 missense variant G/A snv 2.0E-05 3.5E-05 0.800 1.000 20 1997 2017
dbSNP: rs778336949
rs778336949
SGSH
1 1.000 0.120 17 80217060 missense variant C/T snv 0.800 1.000 20 1997 2017
dbSNP: rs104894637
rs104894637
SGSH
2 0.925 0.120 17 80217084 missense variant G/A;C snv 4.4E-06; 9.3E-05 0.800 1.000 19 1997 2017
dbSNP: rs764057581
rs764057581
SGSH
1 1.000 0.120 17 80210794 missense variant G/T snv 2.0E-05 0.800 1.000 19 1997 2017
dbSNP: rs766938111
rs766938111
SGSH
1 1.000 0.120 17 80210898 missense variant C/T snv 2.8E-05 4.2E-05 0.800 1.000 19 1997 2017
dbSNP: rs104894642
rs104894642
SGSH
1 1.000 0.120 17 80214738 missense variant G/A snv 1.2E-05 2.1E-05 0.800 1.000 17 1997 2017
dbSNP: rs529855742
rs529855742
SGSH
15 0.827 0.320 17 80214291 missense variant G/A snv 1.2E-05 1.4E-05 0.800 1.000 17 1997 2017
dbSNP: rs1057521146
rs1057521146
SGSH
1 1.000 0.120 17 80217151 missense variant C/T snv 7.0E-06 0.700 1.000 17 1997 2017
dbSNP: rs139850991
rs139850991
SGSH
1 1.000 0.120 17 80217185 missense variant G/A;T snv 4.4E-06 1.4E-05 0.700 1.000 17 1997 2017
dbSNP: rs144461610
rs144461610
SGSH
1 1.000 0.120 17 80212268 missense variant C/G snv 1.7E-03 1.4E-03 0.700 1.000 17 1997 2017
dbSNP: rs1479831530
rs1479831530
SGSH
1 1.000 0.120 17 80214673 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 17 1997 2017
dbSNP: rs749358773
rs749358773
SGSH
1 1.000 0.120 17 80214684 missense variant A/G snv 4.0E-06 0.700 1.000 17 1997 2017
dbSNP: rs763800418
rs763800418
SGSH
1 1.000 0.120 17 80213845 missense variant T/A snv 4.2E-06 0.700 1.000 17 1997 2017
dbSNP: rs772311757
rs772311757
SGSH
1 1.000 0.120 17 80210832 missense variant G/A snv 3.6E-05 0.700 1.000 17 1997 2017
dbSNP: rs775112689
rs775112689
SGSH
1 1.000 0.120 17 80214705 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 17 1997 2017