Source: CLINVAR

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: 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 3 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 12 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 7 1998 2017
dbSNP: rs1358994052
rs1358994052
NAGLU
1.000 0.120 17 42541059 missense variant G/A;C snv 1.2E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 7 1998 2017
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 5 1996 2017
dbSNP: rs768814260
rs768814260
NAGLU
0.925 0.120 17 42543247 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 5 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 4 1998 2017
dbSNP: rs527236037
rs527236037
NAGLU
1.000 0.120 17 42543955 missense variant G/A;T snv 4.1E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 3 1998 2017
dbSNP: rs763299645
rs763299645
NAGLU
1.000 0.120 17 42544026 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 3 1998 2017
dbSNP: rs1555621454
rs1555621454
NAGLU
1.000 0.120 17 42536546 missense variant T/C snv
CUI: C0086648
Disease: MPS III B
MPS III B 		0.800 1.000 1 1998 2017
dbSNP: rs796052122
rs796052122
NAGLU
1.000 17 42543214 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.800 1.000 1 2015 2015
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 0 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 0 1998 2017
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 11 1996 2017
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 0 2000 2000
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