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: rs659497
rs659497
NAGLU
1 1.000 0.120 17 42537437 synonymous variant T/C snv 0.99 0.99 0.010 1.000 1 2019 2019
dbSNP: rs86312
rs86312
NAGLU
2 0.925 0.120 17 42544215 missense variant C/A;G;T snv 1.8E-02; 0.91; 8.1E-06 0.010 1.000 1 2019 2019
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
dbSNP: rs770947426
rs770947426
SGSH
1 1.000 0.120 17 80210881 frameshift variant G/- delins 6.3E-05 0.700 1.000 9 1997 2013
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 7 1997 2013
dbSNP: rs753472891
rs753472891
SGSH
1 1.000 0.120 17 80213846 missense variant C/T snv 1.7E-05 4.9E-05 0.700 1.000 6 1997 2013
dbSNP: rs752914124
rs752914124
SGSH
8 0.827 0.280 17 80210679 stop gained GGAGGTCCTTG/- del 0.700 1.000 5 1995 2016
dbSNP: rs774010006
rs774010006
SGSH
1 1.000 0.120 17 80215120 missense variant C/T snv 8.0E-06 0.700 1.000 5 1997 2014
dbSNP: rs1555620214
rs1555620214
SGSH
1 1.000 0.120 17 80210795 missense variant T/C snv 0.700 1.000 4 2013 2016
dbSNP: rs753666460
rs753666460
SGSH
1 1.000 0.120 17 80214264 missense variant C/T snv 1.6E-05 1.4E-05 0.700 1.000 4 2004 2014
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: rs745884647
rs745884647
SGSH
1 1.000 0.120 17 80212109 missense variant C/A;G;T snv 8.0E-06; 4.0E-06; 8.0E-06 0.700 1.000 3 2006 2014
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: 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: rs1555621971
rs1555621971
SGSH
1 1.000 0.120 17 80214744 frameshift variant -/C delins 0.700 1.000 2 1997 2012
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: rs398123244
rs398123244
SGSH
1 1.000 0.120 17 80210816 protein altering variant -/CGCTGG delins 4.0E-06; 1.6E-05; 1.2E-05 1.4E-05 0.700 1.000 2 2000 2011
dbSNP: rs746776254
rs746776254
SGSH
1 1.000 0.120 17 80212208 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 1.000 2 2011 2017