DisGeNET - a database of gene-disease associations

List of associated variants

Glycogen storage disease type II, C0017921

Source: CLINVAR ×

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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
rs796051877	GAA	0.807	0.320	17	80110055	splice region variant	G/A	snv	4.0E-06		10
rs386834236	GAA	0.882	0.120	17	80104542	intron variant	T/G	snv	3.4E-03	3.8E-03	6
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	4
rs267606640	AGL	0.882	0.120	1	99913557	stop gained	G/A	snv	5.6E-05	5.6E-05	2
rs1061170	CFH	0.561	0.720	1	196690107	missense variant	C/T	snv	0.68	0.64	2
rs121434491	EFEMP1 ; LOC112268416	0.752	0.200	2	55871091	missense variant	G/A	snv			2
rs121907936	GAA	0.882	0.120	17	80107894	missense variant	T/A;C	snv	4.2E-05	5.6E-05	2
rs121907937	GAA	0.925	0.120	17	80110950	missense variant	G/A	snv	4.0E-06	7.0E-06	2
rs121907938	GAA	0.925	0.120	17	80113350	missense variant	C/A;T	snv	3.9E-05		2
rs121907945	GAA	0.925	0.120	17	80107818	missense variant	G/A	snv	1.6E-05	2.8E-05	2
rs1800312	GAA	0.925	0.120	17	80117016	stop gained	G/A;C	snv	8.0E-06; 3.1E-04		2
rs28937909	GAA	0.925	0.120	17	80112914	missense variant	G/A;T	snv	2.5E-05		2
rs28940868	GAA	0.851	0.120	17	80112922	missense variant	C/A;T	snv	1.2E-04; 8.2E-06		2
rs747610090	GAA	1.000	0.120	17	80108818	missense variant	T/A	snv	2.8E-05		2
rs764622267	GAA	0.925	0.120	17	80107718	missense variant	C/G;T	snv	5.1E-06; 5.1E-06		2
rs886043343	GAA	1.000	0.120	17	80118210	frameshift variant	CA/-	delins			2
rs11200638	LOC105378525 ; HTRA1	0.724	0.280	10	122461028	non coding transcript exon variant	G/A	snv		0.23	2
rs1410996	CFH	0.807	0.240	1	196727803	intron variant	G/A	snv		0.46	1
rs1055945806	GAA	1.000	0.120	17	80104552	splice region variant	C/A;T	snv			1
rs1057516189	GAA	1.000	0.120	17	80118706	frameshift variant	-/CAGAAGGTGACTG	delins			1
rs1057516215	GAA	1.000	0.120	17	80108609	splice donor variant	T/C	snv			1
rs1057516251	GAA	1.000	0.120	17	80104755	stop gained	C/T	snv			1
rs1057516277	GAA	1.000	0.120	17	80117005	stop gained	C/T	snv			1
rs1057516290	GAA	1.000	0.120	17	80108487	splice acceptor variant	A/G	snv			1
rs1057516327	GAA	1.000	0.120	17	80116991	stop gained	G/A	snv			1