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: 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: 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: 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: 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: rs527236037
rs527236037
NAGLU
1 1.000 0.120 17 42543955 missense variant G/A;T snv 4.1E-06 0.800 1.000 17 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: 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: rs763299645
rs763299645
NAGLU
1 1.000 0.120 17 42544026 missense variant C/T snv 1.6E-05 2.1E-05 0.800 1.000 16 1998 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: 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