Gene: NAGLU ×
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: rs1555622545
rs1555622545
NAGLU
1 1.000 0.120 17 42543998 frameshift variant G/- delins 0.700 0
dbSNP: rs1555622559
rs1555622559
NAGLU
1 1.000 0.120 17 42544059 frameshift variant AG/- del 0.700 0
dbSNP: rs1567890328
rs1567890328
NAGLU
1 1.000 0.120 17 42536581 stop gained G/A snv 0.700 0
dbSNP: rs1567891258
rs1567891258
NAGLU
1 1.000 0.120 17 42538339 frameshift variant GT/- delins 0.700 0
dbSNP: rs1567893399
rs1567893399
NAGLU
1 1.000 0.120 17 42543319 missense variant T/G snv 0.700 0
dbSNP: rs483352897
rs483352897
NAGLU
9 0.882 0.280 17 42537517 frameshift variant CGGCCAGGAG/- delins 1.2E-05 2.8E-05 0.700 0
dbSNP: rs527236038
rs527236038
NAGLU
1 1.000 0.120 17 42543952 missense variant G/C;T snv 4.1E-06; 8.3E-06 0.700 0
dbSNP: rs727504028
rs727504028
NAGLU
1 1.000 0.120 17 42536656 splice donor variant G/T snv 1.0E-05 7.0E-06 0.700 0
dbSNP: rs756865833
rs756865833
NAGLU
1 1.000 0.120 17 42541017 frameshift variant CTTC/- delins 4.0E-06 0.700 0
dbSNP: rs773054539
rs773054539
NAGLU
1 1.000 0.120 17 42543553 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs886043792
rs886043792
NAGLU
1 1.000 0.120 17 42538685 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1431589133
rs1431589133
NAGLU
1 1.000 0.120 17 42536484 frameshift variant GCGCGTGCGGGTGCGCGGC/- delins 8.6E-05 0.700 1.000 1 1998 1998
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: 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: rs118204024
rs118204024
NAGLU
2 0.925 0.120 17 42536414 missense variant T/C snv 0.710 1.000 1 2000 2000
dbSNP: rs1555621432
rs1555621432
NAGLU
1 1.000 0.120 17 42536465 frameshift variant T/- del 0.700 1.000 1 2001 2001
dbSNP: rs1555621448
rs1555621448
NAGLU
1 1.000 0.120 17 42536491 frameshift variant -/C delins 0.700 1.000 1 2001 2001
dbSNP: rs398123281
rs398123281
NAGLU
1 1.000 0.120 17 42537517 stop gained G/A snv 0.700 1.000 1 2001 2001
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: rs555145190
rs555145190
NAGLU
21 0.732 0.360 17 42543921 stop gained G/A;C;T snv 4.2E-06 0.700 1.000 1 2005 2005
dbSNP: rs1244655820
rs1244655820
NAGLU
2 0.925 0.120 17 42543603 stop gained C/T snv 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs1445294968
rs1445294968
NAGLU
1 1.000 0.120 17 42536630 stop gained G/T snv 0.700 1.000 1 2009 2009
dbSNP: rs1555621442
rs1555621442
NAGLU
1 1.000 0.120 17 42536480 frameshift variant -/GCGCG delins 0.700 1.000 3 1999 2010
dbSNP: rs1052471595
rs1052471595
NAGLU
1 1.000 0.120 17 42541119 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2011 2011
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