DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: MPS III B ×

Variants associated to the Gene: NAGLU ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs148881970	NAGLU	0.724	0.360	17	42543840	missense variant	A/G	snv	5.4E-05	1.3E-04	22
rs555145190	NAGLU	0.732	0.360	17	42543921	stop gained	G/A;C;T	snv	4.2E-06		21
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs483352897	NAGLU	0.882	0.280	17	42537517	frameshift variant	CGGCCAGGAG/-	delins	1.2E-05	2.8E-05	9
rs104894598	NAGLU	0.882	0.160	17	42543700	missense variant	G/A;C;T	snv	4.4E-05; 1.2E-05		3
rs104894590	NAGLU	0.925	0.120	17	42544027	missense variant	G/A;T	snv	1.6E-05		2
rs104894591	NAGLU	0.925	0.120	17	42543882	stop gained	C/G;T	snv	4.4E-06; 2.2E-05		2
rs104894592	NAGLU	0.925	0.160	17	42541074	stop gained	C/T	snv	5.6E-05	9.8E-05	2
rs104894599	NAGLU	0.925	0.120	17	42536416	missense variant	C/A;G;T	snv		7.1E-06	2
rs118204024	NAGLU	0.925	0.120	17	42536414	missense variant	T/C	snv			2
rs1244655820	NAGLU	0.925	0.120	17	42543603	stop gained	C/T	snv		7.0E-06	2
rs147036053	NAGLU	0.925	0.120	17	42543906	missense variant	G/A	snv	1.3E-05	4.2E-05	2
rs368687817	NAGLU	1.000	0.120	17	42543079	missense variant	C/T	snv	3.3E-05	4.2E-05	2
rs746006696	NAGLU	0.925	0.120	17	42543997	missense variant	C/T	snv	4.1E-06	7.0E-06	2
rs768814260	NAGLU	0.925	0.120	17	42543247	missense variant	A/G	snv	2.4E-05	7.0E-06	2
rs86312	NAGLU	0.925	0.120	17	42544215	missense variant	C/A;G;T	snv	1.8E-02; 0.91; 8.1E-06		2
rs1013345784	NAGLU	1.000	0.120	17	42536274	start lost	T/C;G	snv			1
rs104894593	NAGLU	1.000	0.120	17	42543934	missense variant	G/A	snv			1
rs104894594	NAGLU	1.000	0.120	17	42543933	missense variant	C/A;T	snv	4.2E-06		1
rs104894595	NAGLU	1.000	0.120	17	42543568	missense variant	C/T	snv	2.0E-05	2.1E-05	1
rs104894596	NAGLU	1.000	0.120	17	42543450	missense variant	C/A;T	snv	2.7E-05	1.4E-05	1
rs104894597	NAGLU	1.000	0.120	17	42543699	missense variant	C/T	snv	3.2E-05	3.5E-05	1
rs104894600	NAGLU	1.000	0.120	17	42541125	missense variant	T/C	snv			1
rs104894601	NAGLU	1.000	0.120	17	42538691	missense variant	C/T	snv	3.2E-05	7.0E-06	1
rs1052471595	NAGLU	1.000	0.120	17	42541119	missense variant	G/A	snv	4.0E-06	7.0E-06	1