Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs375103824
rs375103824
NAGLU
1.000 0.120 17 42543370 missense variant A/C;G snv 4.1E-06; 1.6E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs574688121
rs574688121
NAGLU
1.000 0.120 17 42543235 missense variant T/A;C snv 4.0E-06; 1.6E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs746006696
rs746006696
NAGLU
0.925 0.120 17 42543997 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs749140168
rs749140168
NAGLU
1.000 0.120 17 42541185 missense variant G/A;T snv 2.4E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs768918822
rs768918822
NAGLU
1.000 0.120 17 42541189 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs770684838
rs770684838
NAGLU
1.000 0.120 17 42537475 missense variant T/C;G snv 4.0E-06; 4.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs867910252
rs867910252
NAGLU
1.000 0.120 17 42536415 missense variant T/C;G snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs753520553
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 7 1998 2016
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 6 1998 2016
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 5 1998 2016
dbSNP: rs104894591
rs104894591
NAGLU
0.925 0.120 17 42543882 stop gained C/G;T snv 4.4E-06; 2.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 4 1996 2004
dbSNP: rs746006696
rs746006696
NAGLU
0.925 0.120 17 42543997 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2005 2015
dbSNP: rs752131463
rs752131463
NAGLU
1.000 17 42541070 frameshift variant C/- delins 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 2005 2015
dbSNP: rs753520553
rs753520553
NAGLU
0.851 0.280 17 42537433 missense variant A/G snv 3.2E-05 2.1E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 4 1998 2016
dbSNP: rs104894591
rs104894591
NAGLU
0.925 0.120 17 42543882 stop gained C/G;T snv 4.4E-06; 2.2E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 3 1996 1999
dbSNP: rs1555621442
rs1555621442
NAGLU
1.000 0.120 17 42536480 frameshift variant -/GCGCG delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 3 1999 2010
dbSNP: rs758785463
rs758785463
NAGLU
1.000 0.120 17 42536615 missense variant C/T snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 3 1998 2015
dbSNP: rs904672363
rs904672363
NAGLU
1.000 0.120 17 42543217 stop gained G/A snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 3 1999 2013
dbSNP: rs992677795
rs992677795
NAGLU
1.000 0.120 17 42543564 missense variant C/T snv 4.1E-06 4.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 3 2000 2016
dbSNP: rs104894598
rs104894598
NAGLU
0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.700 1.000 2 1999 2013
dbSNP: rs376090795
rs376090795
NAGLU
1.000 0.120 17 42541191 stop gained G/T snv 4.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 2 2000 2015
dbSNP: rs751203469
rs751203469
NAGLU
1.000 0.120 17 42543817 missense variant C/T snv 1.3E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 2 2011 2013
dbSNP: rs104894590
rs104894590
NAGLU
0.925 0.120 17 42544027 missense variant G/A;T snv 1.6E-05
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 1 1998 1998
dbSNP: rs1052471595
rs1052471595
NAGLU
1.000 0.120 17 42541119 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 1 2011 2011
dbSNP: rs1244655820
rs1244655820
NAGLU
0.925 0.120 17 42543603 stop gained C/T snv 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 1 2008 2008