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: 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: 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: 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
dbSNP: rs764134891
rs764134891
NAGLU
1 1.000 0.120 17 42537397 splice acceptor variant G/A snv 8.0E-06 0.700 1.000 1 2013 2013
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: rs886039894
rs886039894
NAGLU
1 1.000 0.120 17 42537494 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs886039895
rs886039895
NAGLU
1 1.000 0.120 17 42543949 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs1013345784
rs1013345784
NAGLU
1 1.000 0.120 17 42536274 start lost T/C;G snv 0.700 0
dbSNP: rs1180591588
rs1180591588
NAGLU
1 1.000 0.120 17 42543068 frameshift variant C/- delins 0.700 0
dbSNP: rs118204025
rs118204025
NAGLU
1 1.000 0.120 17 42541127 missense variant C/G snv 8.0E-06 0.700 0
dbSNP: rs1183634153
rs1183634153
NAGLU
1 1.000 0.120 17 42543360 missense variant G/A snv 1.2E-05 0.700 0
dbSNP: rs1195831432
rs1195831432
NAGLU
1 1.000 0.120 17 42544068 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1250949842
rs1250949842
NAGLU
1 1.000 0.120 17 42543431 frameshift variant G/- del 4.5E-06 0.700 0
dbSNP: rs1305299665
rs1305299665
NAGLU
1 1.000 0.120 17 42541111 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs138387856
rs138387856
NAGLU
1 1.000 0.120 17 42543396 stop gained C/T snv 1.3E-05 7.0E-06 0.700 0