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: rs1555621448
rs1555621448
NAGLU
1 1.000 0.120 17 42536491 frameshift variant -/C delins 0.700 1.000 1 2001 2001
dbSNP: rs1396150639
rs1396150639
NAGLU
1 1.000 0.120 17 42543466 frameshift variant -/C delins 7.0E-06 0.700 0
dbSNP: rs886039895
rs886039895
NAGLU
1 1.000 0.120 17 42543949 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1555621442
rs1555621442
NAGLU
1 1.000 0.120 17 42536480 frameshift variant -/GCGCG delins 0.700 1.000 3 1999 2010
dbSNP: rs778021009
rs778021009
NAGLU
1 1.000 0.120 17 42543452 frameshift variant -/T delins 1.4E-05 0.700 1.000 1 1998 1998
dbSNP: rs1555622002
rs1555622002
NAGLU
1 1.000 0.120 17 42540994 frameshift variant A/- del 0.700 0
dbSNP: rs375103824
rs375103824
NAGLU
1 1.000 0.120 17 42543370 missense variant A/C;G snv 4.1E-06; 1.6E-05 0.700 1.000 15 1998 2017
dbSNP: rs768814260
rs768814260
NAGLU
2 0.925 0.120 17 42543247 missense variant A/G snv 2.4E-05 7.0E-06 0.800 1.000 17 1998 2017
dbSNP: rs1465855291
rs1465855291
NAGLU
1 1.000 0.120 17 42538734 missense variant A/G snv 4.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs768918822
rs768918822
NAGLU
1 1.000 0.120 17 42541189 missense variant A/G snv 4.0E-06 7.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs753520553
rs753520553
NAGLU
10 0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05 0.700 1.000 7 1998 2016
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 1.000 6 1998 2016
dbSNP: rs1305299665
rs1305299665
NAGLU
1 1.000 0.120 17 42541111 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1555622559
rs1555622559
NAGLU
1 1.000 0.120 17 42544059 frameshift variant AG/- del 0.700 0
dbSNP: rs1555622019
rs1555622019
NAGLU
1 1.000 0.120 17 42541049 frameshift variant C/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1180591588
rs1180591588
NAGLU
1 1.000 0.120 17 42543068 frameshift variant C/- delins 0.700 0
dbSNP: rs104894599
rs104894599
NAGLU
2 0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06 0.710 1.000 15 1998 2017
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: rs104894596
rs104894596
NAGLU
1 1.000 0.120 17 42543450 missense variant C/A;T snv 2.7E-05 1.4E-05 0.800 1.000 17 1998 2017
dbSNP: rs104894594
rs104894594
NAGLU
1 1.000 0.120 17 42543933 missense variant C/A;T snv 4.2E-06 0.800 1.000 15 1998 2017
dbSNP: rs118204025
rs118204025
NAGLU
1 1.000 0.120 17 42541127 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs1555622533
rs1555622533
NAGLU
1 1.000 0.120 17 42543938 stop gained C/G snv 0.700 0
dbSNP: rs104894591
rs104894591
NAGLU
2 0.925 0.120 17 42543882 stop gained C/G;T snv 4.4E-06; 2.2E-05 0.700 1.000 4 1996 2004
dbSNP: rs752527478
rs752527478
NAGLU
1 1.000 0.120 17 42544122 stop gained C/G;T snv 0.700 1.000 1 1998 1998
dbSNP: rs762031686
rs762031686
NAGLU
1 1.000 0.120 17 42543680 stop gained C/G;T snv 4.0E-06 2.8E-05 0.700 1.000 1 2011 2011