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: rs749140168
rs749140168
NAGLU
1 1.000 0.120 17 42541185 missense variant G/A;T snv 2.4E-05 2.1E-05 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: rs770684838
rs770684838
NAGLU
1 1.000 0.120 17 42537475 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs867910252
rs867910252
NAGLU
1 1.000 0.120 17 42536415 missense variant T/C;G snv 0.700 1.000 15 1998 2017
dbSNP: rs104894592
rs104894592
NAGLU
2 0.925 0.160 17 42541074 stop gained C/T snv 5.6E-05 9.8E-05 0.710 1.000 12 1996 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: 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: rs1555621442
rs1555621442
NAGLU
1 1.000 0.120 17 42536480 frameshift variant -/GCGCG delins 0.700 1.000 3 1999 2010
dbSNP: rs758785463
rs758785463
NAGLU
1 1.000 0.120 17 42536615 missense variant C/T snv 0.700 1.000 3 1998 2015
dbSNP: rs904672363
rs904672363
NAGLU
1 1.000 0.120 17 42543217 stop gained G/A snv 0.700 1.000 3 1999 2013
dbSNP: rs992677795
rs992677795
NAGLU
1 1.000 0.120 17 42543564 missense variant C/T snv 4.1E-06 4.2E-05 0.700 1.000 3 2000 2016
dbSNP: rs376090795
rs376090795
NAGLU
1 1.000 0.120 17 42541191 stop gained G/T snv 4.0E-06 0.700 1.000 2 2000 2015
dbSNP: rs751203469
rs751203469
NAGLU
1 1.000 0.120 17 42543817 missense variant C/T snv 1.3E-05 2.1E-05 0.700 1.000 2 2011 2013
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: rs118204024
rs118204024
NAGLU
2 0.925 0.120 17 42536414 missense variant T/C snv 0.710 1.000 1 2000 2000
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: 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: rs1445294968
rs1445294968
NAGLU
1 1.000 0.120 17 42536630 stop gained G/T snv 0.700 1.000 1 2009 2009
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: rs1555622019
rs1555622019
NAGLU
1 1.000 0.120 17 42541049 frameshift variant C/- delins 0.700 1.000 1 2013 2013
dbSNP: rs398123281
rs398123281
NAGLU
1 1.000 0.120 17 42537517 stop gained G/A snv 0.700 1.000 1 2001 2001
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: rs752527478
rs752527478
NAGLU
1 1.000 0.120 17 42544122 stop gained C/G;T snv 0.700 1.000 1 1998 1998