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: 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: rs904672363
rs904672363
NAGLU
1 1.000 0.120 17 42543217 stop gained G/A snv 0.700 1.000 3 1999 2013
dbSNP: rs886043792
rs886043792
NAGLU
1 1.000 0.120 17 42538685 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs886039895
rs886039895
NAGLU
1 1.000 0.120 17 42543949 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs886039894
rs886039894
NAGLU
1 1.000 0.120 17 42537494 frameshift variant T/- del 0.700 1.000 1 2017 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: rs86312
rs86312
NAGLU
2 0.925 0.120 17 42544215 missense variant C/A;G;T snv 1.8E-02; 0.91; 8.1E-06 0.010 1.000 1 2019 2019
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: rs773054539
rs773054539
NAGLU
1 1.000 0.120 17 42543553 missense variant C/T snv 4.1E-06 0.700 0
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: 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: 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: 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: 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: 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: rs758785463
rs758785463
NAGLU
1 1.000 0.120 17 42536615 missense variant C/T snv 0.700 1.000 3 1998 2015
dbSNP: rs756865833
rs756865833
NAGLU
1 1.000 0.120 17 42541017 frameshift variant CTTC/- delins 4.0E-06 0.700 0
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: rs752527478
rs752527478
NAGLU
1 1.000 0.120 17 42544122 stop gained C/G;T snv 0.700 1.000 1 1998 1998
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: 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: rs746006696
rs746006696
NAGLU
2 0.925 0.120 17 42543997 missense variant C/T snv 4.1E-06 7.0E-06 0.700 1.000 15 1998 2017
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: rs574688121
rs574688121
NAGLU
1 1.000 0.120 17 42543235 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 1.000 15 1998 2017
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