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: rs1013345784
rs1013345784
NAGLU
1.000 0.120 17 42536274 start lost T/C;G snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs104894590
rs104894590
NAGLU
0.925 0.120 17 42544027 missense variant G/A;T snv 1.6E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 17 1996 2017
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: 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: 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: rs104894592
rs104894592
NAGLU
0.925 0.160 17 42541074 stop gained C/T snv 5.6E-05 9.8E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.710 1.000 12 1996 2017
dbSNP: rs104894592
rs104894592
NAGLU
0.925 0.160 17 42541074 stop gained C/T snv 5.6E-05 9.8E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2017 2017
dbSNP: rs104894593
rs104894593
NAGLU
1.000 0.120 17 42543934 missense variant G/A snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs104894594
rs104894594
NAGLU
1.000 0.120 17 42543933 missense variant C/A;T snv 4.2E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 15 1998 2017
dbSNP: rs104894595
rs104894595
NAGLU
1.000 0.120 17 42543568 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 15 1998 2017
dbSNP: rs104894596
rs104894596
NAGLU
1.000 0.120 17 42543450 missense variant C/A;T snv 2.7E-05 1.4E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 17 1998 2017
dbSNP: rs104894597
rs104894597
NAGLU
1.000 0.120 17 42543699 missense variant C/T snv 3.2E-05 3.5E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 21 1998 2017
dbSNP: rs104894598
rs104894598
NAGLU
0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 20 1998 2017
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: rs104894598
rs104894598
NAGLU
0.882 0.160 17 42543700 missense variant G/A;C;T snv 4.4E-05; 1.2E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2017 2017
dbSNP: rs104894599
rs104894599
NAGLU
0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.710 1.000 15 1998 2017
dbSNP: rs104894599
rs104894599
NAGLU
0.925 0.120 17 42536416 missense variant C/A;G;T snv 7.1E-06
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.010 1.000 1 2000 2000
dbSNP: rs104894600
rs104894600
NAGLU
1.000 0.120 17 42541125 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 15 1998 2017
dbSNP: rs104894601
rs104894601
NAGLU
1.000 0.120 17 42538691 missense variant C/T snv 3.2E-05 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.810 1.000 16 1998 2017
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: rs1180591588
rs1180591588
NAGLU
1.000 0.120 17 42543068 frameshift variant C/- delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs118204024
rs118204024
NAGLU
0.925 0.120 17 42536414 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.710 1.000 1 2000 2000
dbSNP: rs118204024
rs118204024
NAGLU
0.925 0.120 17 42536414 missense variant T/C snv
CUI: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		0.010 1.000 1 2000 2000
dbSNP: rs118204025
rs118204025
NAGLU
1.000 0.120 17 42541127 missense variant C/G snv 8.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs1183634153
rs1183634153
NAGLU
1.000 0.120 17 42543360 missense variant G/A snv 1.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0