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: 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: 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: rs1424242431
rs1424242431
SGSH
1 1.000 0.120 17 80210823 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1555620092
rs1555620092
SGSH
1 1.000 0.120 17 80210581 frameshift variant A/- delins 0.700 0
dbSNP: rs1555620141
rs1555620141
SGSH
1 1.000 0.120 17 80210653 stop gained C/T snv 0.700 0
dbSNP: rs1555620827
rs1555620827
SGSH
1 1.000 0.120 17 80212257 frameshift variant G/- delins 0.700 0
dbSNP: rs1555621425
rs1555621425
SGSH
1 1.000 0.120 17 80213886 splice acceptor variant C/A snv 0.700 0
dbSNP: rs1555621662
rs1555621662
SGSH
1 1.000 0.120 17 80214257 missense variant A/G snv 0.700 0
dbSNP: rs1555621984
rs1555621984
SGSH
1 1.000 0.120 17 80214766 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1555622888
rs1555622888
SGSH
1 1.000 0.120 17 80217065 frameshift variant G/- delins 0.700 0
dbSNP: rs1555624080
rs1555624080
SGSH ; SLC26A11
1 1.000 0.120 17 80220260 stop gained G/T snv 0.700 0
dbSNP: rs1555624111
rs1555624111
SGSH ; SLC26A11
1 1.000 0.120 17 80220277 frameshift variant CGCGCAGCAG/- delins 0.700 0
dbSNP: rs1567914459
rs1567914459
SGSH
1 1.000 0.120 17 80210586 stop gained G/A snv 0.700 0
dbSNP: rs370636303
rs370636303
SGSH
1 1.000 0.120 17 80214730 missense variant C/T snv 2.8E-05 0.700 0
dbSNP: rs758756630
rs758756630
SGSH
1 1.000 0.120 17 80211000 missense variant T/C snv 4.2E-06 0.700 0
dbSNP: rs774602372
rs774602372
SGSH
1 1.000 0.120 17 80213869 missense variant G/A;C snv 0.700 0
dbSNP: rs774773010
rs774773010
SGSH
1 1.000 0.120 17 80214300 missense variant C/G;T snv 4.1E-06; 4.1E-06 0.700 0
dbSNP: rs779703983
rs779703983
SGSH
1 1.000 0.120 17 80217046 missense variant T/G snv 0.700 0
dbSNP: rs1057521801
rs1057521801
SGSH
1 1.000 0.120 17 80213876 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1488660868
rs1488660868
SGSH ; SLC26A11
1 1.000 0.120 17 80220312 start lost A/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1555621659
rs1555621659
SGSH
1 1.000 0.120 17 80214253 stop gained A/T snv 0.700 1.000 1 2013 2013