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: 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: rs752914124
rs752914124
SGSH
8 0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 0.700 1.000 5 1995 2016
dbSNP: rs374621913
rs374621913
SGSH
2 0.925 0.120 17 80213852 stop gained G/A;C snv 1.3E-05; 4.2E-06 0.700 1.000 2 2000 2004
dbSNP: rs886041370
rs886041370
SGSH
1 1.000 0.120 17 80214206 stop gained C/T snv 7.0E-06 0.700 1.000 2 1997 1998
dbSNP: rs1555621659
rs1555621659
SGSH
1 1.000 0.120 17 80214253 stop gained A/T snv 0.700 1.000 1 2013 2013
dbSNP: rs1323958195
rs1323958195
SGSH
1 1.000 0.120 17 80210736 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1424242431
rs1424242431
SGSH
1 1.000 0.120 17 80210823 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1555620141
rs1555620141
SGSH
1 1.000 0.120 17 80210653 stop gained C/T snv 0.700 0
dbSNP: rs1555624080
rs1555624080
SGSH ; SLC26A11
1 1.000 0.120 17 80220260 stop gained G/T snv 0.700 0
dbSNP: rs1567914459
rs1567914459
SGSH
1 1.000 0.120 17 80210586 stop gained G/A snv 0.700 0
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: 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: 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: 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: 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: 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: 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