DisGeNET - a database of gene-disease associations

List of associated variants

Mucopolysaccharidosis I, C0023786

Source: ALL

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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
rs779762183	IDUA	0.925	0.120	4	1002063	protein altering variant	-/CCCCCATTTACA	delins	9.5E-06	7.0E-06	2
rs786200915	IDUA	0.925	0.120	4	1001700	frameshift variant	-/TGCTC	delins			2
rs777295041	IDUA	0.925	0.120	4	1000880	splice acceptor variant	A/G	snv	3.6E-05	1.4E-05	2
rs1553917754	IDUA	0.925	0.120	4	1004321	frameshift variant	C/-	delins			2
rs1553917209	IDUA	1.000	0.120	4	1002065	frameshift variant	C/-	del			1
rs398123258	IDUA	1.000	0.120	4	1004083	frameshift variant	C/-	del			1
rs764196171	IDUA	0.925	0.120	4	1002325	stop gained	C/A;G	snv	4.0E-06		2
rs121965031	IDUA	0.882	0.120	4	1004286	stop gained	C/A;G;T	snv	4.0E-06; 8.1E-06		3
rs746766617	IDUA	0.882	0.120	4	1002340	missense variant	C/G	snv	4.0E-06		3
rs121965021	IDUA	0.807	0.320	4	1003418	missense variant	C/G;T	snv	5.6E-05		7
rs772416503	IDUA	0.882	0.120	4	1003120	missense variant	C/G;T	snv	1.4E-05		3
rs121965025	IDUA	0.925	0.120	4	1004292	stop gained	C/G;T	snv	2.8E-04; 2.8E-05		2
rs121965020	SLC26A1 ; IDUA	0.827	0.280	4	987858	stop gained	C/T	snv	4.7E-04	6.1E-04	6
rs121965032	IDUA	0.882	0.120	4	1002387	missense variant	C/T	snv			3
rs267606862	HEXA	0.882	0.160	15	72346681	stop gained	C/T	snv			3
rs754966840	SLC26A1 ; IDUA	0.925	0.120	4	987915	missense variant	C/T	snv	1.4E-05		2
rs121907953	HEXA	0.851	0.160	15	72353106	missense variant	G/A	snv	2.0E-05		5
rs121965019	IDUA	0.851	0.120	4	1002747	stop gained	G/A	snv	5.9E-04	8.4E-04	5
rs121965029	SLC26A1 ; IDUA	0.851	0.120	4	987916	missense variant	G/A	snv	9.2E-06	7.0E-06	4
rs991612107	IDUA	0.882	0.120	4	1002748	stop gained	G/A	snv			4
rs794726877	SLC26A1 ; IDUA	0.925	0.120	4	987236	missense variant	G/A	snv	9.2E-06	1.4E-05	2
rs1264013707	SLC26A1 ; IDUA	1.000	0.120	4	987243	splice donor variant	G/A	snv	9.0E-06		1
rs762411583	IDUA	0.882	0.120	4	1001672	splice region variant	G/A;C	snv	4.3E-06		3
rs758452450	SLC26A1 ; IDUA	0.925	0.120	4	987873	missense variant	G/A;C	snv	8.3E-06		2
rs199801029	IDUA	0.925	0.120	4	1002275	missense variant	G/C	snv	6.6E-05	7.7E-05	2