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: rs138504221
rs138504221
SGSH
9 0.807 0.280 17 80212128 missense variant A/G snv 9.6E-05 1.5E-04 0.700 1.000 6 1997 2013
dbSNP: rs753355844
rs753355844
HGSNAT
3 0.882 0.120 8 43193790 missense variant G/A snv 1.6E-05 0.700 1.000 5 2006 2010
dbSNP: rs777956287
rs777956287
SGSH
1 1.000 0.120 17 80210826 frameshift variant C/- del 7.0E-06 0.700 1.000 4 1997 2014
dbSNP: rs778700037
rs778700037
SGSH
2 0.925 0.120 17 80210933 frameshift variant -/G delins 3.7E-05 3.5E-05 0.700 1.000 4 1997 2013
dbSNP: rs104894637
rs104894637
SGSH
2 0.925 0.120 17 80217084 missense variant G/A;C snv 4.4E-06; 9.3E-05 0.700 1.000 3 1997 2004
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 3 2000 2011
dbSNP: rs775078211
rs775078211
HGSNAT
3 0.882 0.120 8 43191495 stop gained C/G;T snv 4.0E-06; 1.6E-05 0.700 1.000 3 2006 2008
dbSNP: rs104894598
rs104894598
NAGLU
3 0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05 0.700 1.000 2 1999 2013
dbSNP: rs104894635
rs104894635
SGSH
4 0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 0.700 1.000 2 1997 1998
dbSNP: rs1563366896
rs1563366896
HGSNAT
3 0.882 0.120 8 43169216 stop gained C/T snv 0.700 1.000 2 2008 2015
dbSNP: rs193066451
rs193066451
HGSNAT
3 0.882 0.120 8 43159045 splice donor variant G/A snv 4.0E-05 1.3E-04 0.700 1.000 2 2006 2006
dbSNP: rs483352896
rs483352896
HGSNAT
2 0.925 0.120 8 43158921 splice acceptor variant A/G snv 2.5E-05 2.1E-05 0.700 1.000 2 2008 2011
dbSNP: rs1244655820
rs1244655820
NAGLU
2 0.925 0.120 17 42543603 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs104894599
rs104894599
NAGLU
2 0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06 0.010 1.000 1 2000 2000
dbSNP: rs118204024
rs118204024
NAGLU
2 0.925 0.120 17 42536414 missense variant T/C snv 0.010 1.000 1 2000 2000