DisGeNET - a database of gene-disease associations

List of shared variants

Hurler-Scheie Syndrome, C0086431

Disease: Pfaundler-Hurler Syndrome

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
rs121965021	IDUA	0.807	0.320	4	1003418	missense variant	C/G;T	snv	5.6E-05		7
rs121965020	SLC26A1 ; IDUA	0.827	0.280	4	987858	stop gained	C/T	snv	4.7E-04	6.1E-04	6
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
rs148789453	IDUA	0.882	0.120	4	1001802	missense variant	T/A;G	snv	2.2E-05; 4.4E-06		4
rs121965027	IDUA	0.882	0.120	4	1003102	missense variant	T/C	snv		7.0E-06	3
rs121965031	IDUA	0.882	0.120	4	1004286	stop gained	C/A;G;T	snv	4.0E-06; 8.1E-06		3
rs121965032	IDUA	0.882	0.120	4	1002387	missense variant	C/T	snv			3
rs121965033	IDUA	0.925	0.120	4	1002333	missense variant	T/C;G	snv	4.0E-06		3
rs762903007	IDUA	0.882	0.120	4	1002435	missense variant	A/G	snv	1.8E-05	7.0E-06	3
rs772416503	IDUA	0.882	0.120	4	1003120	missense variant	C/G;T	snv	1.4E-05		3