DisGeNET - a database of gene-disease associations

List of associated variants

Electrocardiogram abnormal, C0522055

Source: CURATED ×

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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
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		33
rs1555735545	STRN4 ; FKRP	0.851	0.160	19	46746071	5 prime UTR variant	G/A	snv			22
rs1553603732	DES	1.000	0.160	2	219423784	frameshift variant	CCCATCCAGACCTACTC/-	delins			10
rs72664223	ABCC6	1.000	0.160	16	16221763	frameshift variant	T/-	del	4.1E-06		9
rs114303883	ABCC6	1.000	0.160	16	16182534	stop gained	C/A;T	snv	9.1E-05	4.2E-05	8
rs72653788	ABCC6	1.000	0.160	16	16178935	missense variant	G/A	snv	3.2E-05	5.6E-05	8
rs63749794	ABCC6	0.925	0.160	16	16163159	missense variant	G/A	snv	9.2E-05	4.2E-05	7
rs63751111	ABCC6	1.000	0.160	16	16154873	missense variant	C/G;T	snv	8.1E-06		7
rs72653783	ABCC6	1.000	0.160	16	16182566	missense variant	T/G	snv	4.0E-06		7
rs78678589	ABCC6	0.925	0.160	16	16203457	missense variant	G/C;T	snv	1.6E-05		7
rs1555514467	ABCC6	1.000	0.160	16	16188897	frameshift variant	AG/-	delins			6
rs72653769	ABCC6	1.000	0.160	16	16190315	missense variant	A/T	snv	8.0E-06		6
rs72653777	ABCC6	1.000	0.160	16	16187193	missense variant	G/A	snv	2.8E-05	4.2E-05	6
rs72664203	ABCC6	1.000	0.160	16	16219948	splice acceptor variant	C/G	snv			6
rs749125777	ABCC6	1.000	0.160	16	16173287	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		6
rs965791272	ABCC6	1.000	0.160	16	16155041	non coding transcript exon variant	G/A;C;T	snv			6
rs72653784	ABCC6	1.000	0.160	16	16182562	missense variant	C/A;T	snv	2.0E-05; 4.0E-06		5
rs63749856	ABCC6	0.851	0.200	16	16155010	missense variant	C/T	snv	4.8E-05	2.8E-05	11
rs72664233	ABCC6	0.882	0.200	16	16157770	frameshift variant	A/-	del	8.4E-05	4.9E-05	10
rs63749796	ABCC6	0.925	0.200	16	16159505	missense variant	C/G	snv			9
rs63750622	ABCC6	0.925	0.200	16	16154898	missense variant	C/A;G;T	snv	4.1E-06; 4.1E-06; 1.6E-05		9
rs72653787	ABCC6	0.925	0.200	16	16178950	missense variant	C/T	snv	3.6E-05	3.5E-05	9
rs72664204	ABCC6	0.925	0.200	16	16203407	splice donor variant	AC/-	delins	4.0E-06	2.1E-05	9
rs1555513085	ABCC6	0.925	0.200	16	16182486	frameshift variant	TCTC/-	delins			8
rs761433545	ABCC6	0.925	0.200	16	16187192	missense variant	C/A;G;T	snv	2.0E-05		8