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: rs1013345784
rs1013345784
NAGLU
1 1.000 0.120 17 42536274 start lost T/C;G snv 0.700 0
dbSNP: rs104894590
rs104894590
NAGLU
2 0.925 0.120 17 42544027 missense variant G/A;T snv 1.6E-05 0.800 1.000 17 1996 2017
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: 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: rs104894593
rs104894593
NAGLU
1 1.000 0.120 17 42543934 missense variant G/A snv 0.700 1.000 15 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: rs104894595
rs104894595
NAGLU
1 1.000 0.120 17 42543568 missense variant C/T snv 2.0E-05 2.1E-05 0.800 1.000 15 1998 2017
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: rs104894597
rs104894597
NAGLU
1 1.000 0.120 17 42543699 missense variant C/T snv 3.2E-05 3.5E-05 0.800 1.000 21 1998 2017
dbSNP: rs104894598
rs104894598
NAGLU
3 0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05 0.800 1.000 20 1998 2017
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: rs104894600
rs104894600
NAGLU
1 1.000 0.120 17 42541125 missense variant T/C snv 0.700 1.000 15 1998 2017
dbSNP: rs104894601
rs104894601
NAGLU
1 1.000 0.120 17 42538691 missense variant C/T snv 3.2E-05 7.0E-06 0.810 1.000 16 1998 2017
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: rs1180591588
rs1180591588
NAGLU
1 1.000 0.120 17 42543068 frameshift variant C/- delins 0.700 0
dbSNP: rs118204024
rs118204024
NAGLU
2 0.925 0.120 17 42536414 missense variant T/C snv 0.710 1.000 1 2000 2000
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: 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: rs1250949842
rs1250949842
NAGLU
1 1.000 0.120 17 42543431 frameshift variant G/- del 4.5E-06 0.700 0
dbSNP: rs1276484671
rs1276484671
NAGLU
1 1.000 0.120 17 42536507 missense variant G/A snv 2.8E-05 0.700 1.000 15 1998 2017
dbSNP: rs1305299665
rs1305299665
NAGLU
1 1.000 0.120 17 42541111 missense variant A/G;T snv 4.0E-06 0.700 0
dbSNP: rs1358994052
rs1358994052
NAGLU
1 1.000 0.120 17 42541059 missense variant G/A;C snv 1.2E-05 0.800 1.000 18 1998 2017
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