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: rs104894593
rs104894593
NAGLU
1 1.000 0.120 17 42543934 missense variant G/A snv 0.700 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
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: rs1460260015
rs1460260015
NAGLU
1 1.000 0.120 17 42536384 missense variant C/T snv 7.1E-06 0.700 1.000 15 1998 2017
dbSNP: rs1555621454
rs1555621454
NAGLU
1 1.000 0.120 17 42536546 missense variant T/C snv 0.800 1.000 15 1998 2017
dbSNP: rs1555622482
rs1555622482
NAGLU
1 1.000 0.120 17 42543857 missense variant G/T snv 0.700 1.000 15 1998 2017
dbSNP: rs200909691
rs200909691
NAGLU
1 1.000 0.120 17 42543451 missense variant G/A snv 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: 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: 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: 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: 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