DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Glycogen storage disease type II ×

Variants associated to the Gene: GAA ×

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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
rs1207988953	GAA	1.000	0.120	17	80104964	frameshift variant	TG/-	delins			1
rs767882689	GAA	1.000	0.120	17	80105111	frameshift variant	TG/-	del			1
rs121907941	GAA	0.925	0.120	17	80110974	missense variant	TC/GT	mnv			1
rs786204532	GAA	1.000	0.120	17	80107630	frameshift variant	TATATCACAGGCCTCGCCGA/C	delins			1
rs386834236	GAA	0.882	0.120	17	80104542	intron variant	T/G	snv	3.4E-03	3.8E-03	6
rs398123174	GAA	1.000	0.120	17	80104893	missense variant	T/G	snv			1
rs762260678	GAA	1.000	0.120	17	80108467	intron variant	T/G	snv	1.6E-05		1
rs121907940	GAA	1.000	0.120	17	80107837	missense variant	T/C;G	snv			1
rs1057516215	GAA	1.000	0.120	17	80108609	splice donor variant	T/C	snv			1
rs1434761678	GAA	1.000	0.120	17	80108830	splice donor variant	T/C	snv	5.0E-06		1
rs1555599171	GAA	1.000	0.120	17	80105896	splice donor variant	T/C	snv			1
rs1555600061	GAA	1.000	0.120	17	80108512	missense variant	T/C	snv			1
rs766074609	GAA	1.000	0.120	17	80108398	missense variant	T/C	snv	8.0E-06		1
rs779556619	GAA	1.000	0.120	17	80112001	missense variant	T/C	snv	3.2E-05	3.5E-05	1
rs786204720	GAA	1.000	0.120	17	80110945	missense variant	T/C	snv	8.0E-06	7.0E-06	1
rs121907936	GAA	0.882	0.120	17	80107894	missense variant	T/A;C	snv	4.2E-05	5.6E-05	2
rs772883420	GAA	1.000	0.120	17	80110730	missense variant	T/A;C	snv	1.6E-05		1
rs747610090	GAA	1.000	0.120	17	80108818	missense variant	T/A	snv	2.8E-05		2
rs1057517148	GAA	1.000	0.120	17	80117111	splice donor variant	T/A	snv	4.0E-06	7.0E-06	1
rs1555599713	GAA	1.000	0.120	17	80107724	splice donor variant	T/A	snv			1
rs786204561	GAA	1.000	0.120	17	80118359	splice donor variant	T/A	snv			1
rs1057516785	GAA	1.000	0.120	17	80108512	frameshift variant	T/-	del			1
rs1057517267	GAA	1.000	0.120	17	80110955	frameshift variant	T/-	delins			1
rs1057517286	GAA	1.000	0.120	17	80108606	frameshift variant	T/-	del			1
rs1555598824	GAA	1.000	0.120	17	80104962	frameshift variant	T/-	del			1