DisGeNET - a database of gene-disease associations

List of associated variants

Mucopolysaccharidosis I, C0023786

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
rs991612107	IDUA	0.882	0.120	4	1002748	stop gained	G/A	snv			4
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
rs1340421020	IDUA	0.925	0.120	4	1002752	stop gained	G/C;T	snv			2
rs1553917428	IDUA	0.925	0.120	4	1002946	splice donor variant	T/G	snv			2
rs1553917754	IDUA	0.925	0.120	4	1004321	frameshift variant	C/-	delins			2
rs387906504	IDUA	0.925	0.120	4	1004391	stop lost	T/G	snv			2
rs786200915	IDUA	0.925	0.120	4	1001700	frameshift variant	-/TGCTC	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
rs398123260	SLC26A1 ; IDUA	1.000	0.120	4	987119	inframe insertion	TCGCTCCTGGCC/-;TCGCTCCTGGCCTCGCTCCTGGCC	delins		4.9E-05	1
rs746766617	IDUA	0.882	0.120	4	1002340	missense variant	C/G	snv	4.0E-06		3
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
rs762411583	IDUA	0.882	0.120	4	1001672	splice region variant	G/A;C	snv	4.3E-06		3
rs148789453	IDUA	0.882	0.120	4	1001802	missense variant	T/A;G	snv	2.2E-05; 4.4E-06		4
rs758452450	SLC26A1 ; IDUA	0.925	0.120	4	987873	missense variant	G/A;C	snv	8.3E-06		2
rs869025584	IDUA	0.925	0.120	4	1001742	missense variant	T/C	snv	8.9E-06	1.4E-05	2
rs1264013707	SLC26A1 ; IDUA	1.000	0.120	4	987243	splice donor variant	G/A	snv	9.0E-06		1
rs794726877	SLC26A1 ; IDUA	0.925	0.120	4	987236	missense variant	G/A	snv	9.2E-06	1.4E-05	2
rs121965029	SLC26A1 ; IDUA	0.851	0.120	4	987916	missense variant	G/A	snv	9.2E-06	7.0E-06	4
rs779762183	IDUA	0.925	0.120	4	1002063	protein altering variant	-/CCCCCATTTACA	delins	9.5E-06	7.0E-06	2
rs754966840	SLC26A1 ; IDUA	0.925	0.120	4	987915	missense variant	C/T	snv	1.4E-05		2
rs772416503	IDUA	0.882	0.120	4	1003120	missense variant	C/G;T	snv	1.4E-05		3
rs121907953	HEXA	0.851	0.160	15	72353106	missense variant	G/A	snv	2.0E-05		5