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: rs1046551417
rs1046551417
SGSH
1 1.000 0.120 17 80212203 missense variant C/A;G;T snv 8.0E-06 0.700 1.000 2 2000 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs1057521801
rs1057521801
SGSH
1 1.000 0.120 17 80213876 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1064795109
rs1064795109
SGSH
1 1.000 0.120 17 80210532 missense variant C/T snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs113641837
rs113641837
SGSH
1 1.000 0.120 17 80213848 missense variant G/C snv 7.4E-04 3.5E-03 0.700 0
dbSNP: rs1237611456
rs1237611456
SGSH
1 1.000 0.120 17 80210841 missense variant A/G snv 8.0E-06 0.700 0
dbSNP: rs1250300189
rs1250300189
SGSH ; SLC26A11
1 1.000 0.120 17 80220313 start lost T/C snv 2.2E-05 7.0E-06 0.700 1.000 2 2013 2014
dbSNP: rs1299601360
rs1299601360
SGSH
1 1.000 0.120 17 80215125 start lost A/G snv 7.0E-06 0.700 0
dbSNP: rs1323958195
rs1323958195
SGSH
1 1.000 0.120 17 80210736 stop gained G/A snv 1.4E-05 0.700 0
dbSNP: rs1369704445
rs1369704445
SGSH
1 1.000 0.120 17 80217194 splice acceptor variant T/C snv 0.700 0
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: 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: rs1424242431
rs1424242431
SGSH
1 1.000 0.120 17 80210823 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs143947056
rs143947056
SGSH
1 1.000 0.120 17 80212143 missense variant G/A snv 3.6E-05 4.2E-05 0.700 1.000 3 2002 2016
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: 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