DisGeNET - a database of gene-disease associations

List of associated variants

Mucopolysaccharidosis, MPS-IV-A, C0086651

Source: ALL

Results per page

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
rs118204438	GALNS	0.882	0.120	16	88841077	missense variant	T/A	snv	4.0E-05	7.7E-05	3
rs118204443	GALNS	0.882	0.120	16	88832099	missense variant	C/A	snv	4.4E-05	8.4E-05	3
rs118204437	GALNS ; LOC107987238	0.882	0.120	16	88824853	missense variant	G/A	snv	9.2E-05	4.9E-05	3
rs1028668536	GALNS	0.925	0.120	16	88841948	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs118204446	GALNS	0.925	0.120	16	88832065	missense variant	G/C	snv	2.0E-05	2.1E-05	2
rs144067930	GALNS	0.925	0.120	16	88835261	missense variant	A/C	snv	2.2E-04	1.7E-04	2
rs149239881	GALNS	0.925	0.120	16	88835227	missense variant	G/A	snv	3.7E-05	2.8E-05	2
rs761385192	GALNS	0.925	0.120	16	88835743	missense variant	C/T	snv	2.8E-05	3.5E-05	2
rs772656696	GALNS	0.925	0.120	16	88837690	frameshift variant	G/-	del		2.1E-05	2
rs1168278189	GALNS	1.000	0.120	16	88837740	missense variant	G/A	snv	4.0E-06		1
rs118204435	GALNS	1.000	0.120	16	88836222	missense variant	G/C	snv			1
rs118204436	GALNS	1.000	0.120	16	88841001	missense variant	A/G	snv			1
rs118204439	GALNS	1.000	0.120	16	88818072	stop gained	G/A;C	snv	5.2E-06		1
rs118204440	GALNS	1.000	0.120	16	88818029	missense variant	T/C	snv			1
rs118204441	GALNS	1.000	0.120	16	88841936	missense variant	G/A;C	snv			1
rs118204442	GALNS	1.000	0.120	16	88835335	missense variant	C/T	snv	2.8E-05	2.1E-05	1
rs118204444	GALNS	1.000	0.120	16	88837703	missense variant	G/A	snv	8.0E-06	7.0E-06	1
rs118204445	GALNS	1.000	0.120	16	88842745	missense variant	A/C	snv			1
rs118204447	GALNS	1.000	0.120	16	88842772	missense variant	C/T	snv	8.1E-06	2.8E-05	1
rs118204448	GALNS	1.000	0.120	16	88835240	missense variant	C/A;T	snv			1
rs118204449	GALNS	1.000	0.120	16	88835794	stop gained	C/T	snv			1
rs1204485789	GALNS	1.000	0.120	16	88818039	missense variant	G/A	snv			1
rs1209154325	GALNS	1.000	0.120	16	88842711	missense variant	G/A	snv	4.0E-06		1
rs1263679818	GALNS	1.000	0.120	16	88842714	missense variant	C/T	snv	4.0E-06		1
rs1269110043	GALNS	1.000	0.120	16	88832025	missense variant	C/G	snv	8.0E-06		1