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: rs1392732615
rs1392732615
NAGLU
1 1.000 0.120 17 42541024 missense variant T/C snv 4.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs1396150639
rs1396150639
NAGLU
1 1.000 0.120 17 42543466 frameshift variant -/C delins 7.0E-06 0.700 0
dbSNP: rs1430122594
rs1430122594
NAGLU
1 1.000 0.120 17 42536352 frameshift variant G/- delins 0.700 0
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: 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: rs1465855291
rs1465855291
NAGLU
1 1.000 0.120 17 42538734 missense variant A/G snv 4.0E-06 0.700 1.000 15 1998 2017
dbSNP: rs147036053
rs147036053
NAGLU
2 0.925 0.120 17 42543906 missense variant G/A snv 1.3E-05 4.2E-05 0.700 0
dbSNP: rs1485628563
rs1485628563
NAGLU
1 1.000 0.120 17 42543206 frameshift variant G/- del 8.0E-06 0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
22 0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04 0.700 1.000 6 1998 2016
dbSNP: rs1555621397
rs1555621397
NAGLU
1 1.000 0.120 17 42536276 stop gained G/T snv 0.700 0
dbSNP: rs1555621402
rs1555621402
NAGLU
1 1.000 0.120 17 42536284 frameshift variant GCGG/- delins 0.700 0
dbSNP: rs1555621432
rs1555621432
NAGLU
1 1.000 0.120 17 42536465 frameshift variant T/- del 0.700 1.000 1 2001 2001
dbSNP: rs1555621442
rs1555621442
NAGLU
1 1.000 0.120 17 42536480 frameshift variant -/GCGCG delins 0.700 1.000 3 1999 2010
dbSNP: rs1555621448
rs1555621448
NAGLU
1 1.000 0.120 17 42536491 frameshift variant -/C delins 0.700 1.000 1 2001 2001
dbSNP: rs1555621454
rs1555621454
NAGLU
1 1.000 0.120 17 42536546 missense variant T/C snv 0.800 1.000 15 1998 2017
dbSNP: rs1555622000
rs1555622000
NAGLU
1 1.000 0.120 17 42540979 frameshift variant CAGTTGGG/- delins 0.700 0
dbSNP: rs1555622002
rs1555622002
NAGLU
1 1.000 0.120 17 42540994 frameshift variant A/- del 0.700 0
dbSNP: rs1555622019
rs1555622019
NAGLU
1 1.000 0.120 17 42541049 frameshift variant C/- delins 0.700 1.000 1 2013 2013
dbSNP: rs1555622242
rs1555622242
NAGLU
1 1.000 0.120 17 42543099 stop gained C/T snv 0.700 0
dbSNP: rs1555622250
rs1555622250
NAGLU
1 1.000 0.120 17 42543116 frameshift variant G/- delins 0.700 0
dbSNP: rs1555622351
rs1555622351
NAGLU
1 1.000 0.120 17 42543427 stop gained G/A snv 0.700 0
dbSNP: rs1555622354
rs1555622354
NAGLU
1 1.000 0.120 17 42543444 frameshift variant GCCCGGCGGT/- del 0.700 0
dbSNP: rs1555622441
rs1555622441
NAGLU
1 1.000 0.120 17 42543711 stop gained C/T snv 0.700 0
dbSNP: rs1555622443
rs1555622443
NAGLU
1 1.000 0.120 17 42543714 stop gained G/T snv 0.700 0