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: rs1555621448
rs1555621448
NAGLU
1.000 0.120 17 42536491 frameshift variant -/C delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 1 2001 2001
dbSNP: rs1396150639
rs1396150639
NAGLU
1.000 0.120 17 42543466 frameshift variant -/C delins 7.0E-06
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
dbSNP: rs886039895
rs886039895
NAGLU
1.000 0.120 17 42543949 frameshift variant -/G delins
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 1 2017 2017
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: rs778021009
rs778021009
NAGLU
1.000 0.120 17 42543452 frameshift variant -/T delins 1.4E-05
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 1.000 1 1998 1998
dbSNP: rs1555622002
rs1555622002
NAGLU
1.000 0.120 17 42540994 frameshift variant A/- del
CUI: C0086648
Disease: MPS III B
MPS III B 		0.700 0
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: 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 17 1998 2017
dbSNP: rs1465855291
rs1465855291
NAGLU
1.000 0.120 17 42538734 missense variant A/G snv 4.0E-06
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: 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: 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: rs768814260
rs768814260
NAGLU
0.925 0.120 17 42543247 missense variant A/G snv 2.4E-05 7.0E-06
CUI: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		0.700 1.000 1 2004 2004
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0312420
Disease: Hypersexuality state
Hypersexuality state 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C1836543
Disease: Thick vermilion border
Thick vermilion border 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0497327
Disease: Dementia
Dementia 		0.700 0
dbSNP: rs148881970
rs148881970
NAGLU
0.724 0.360 17 42543840 missense variant A/G snv 5.4E-05 1.3E-04
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 0