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	Num. diseases
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06	42
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
rs28939702	ABCC6	0.851	0.320	16	16154899	missense variant	G/A;T	snv	8.2E-05	13
rs60791294	ABCC6	0.882	0.280	16	16163086	missense variant	C/G;T	snv	7.6E-05	11
rs63750759	ABCC6	0.851	0.280	16	16154974	missense variant	G/A;T	snv	1.9E-04; 5.4E-06	11
rs72650700	ABCC6	0.827	0.240	16	16190247	stop gained	G/A;T	snv	4.4E-05; 4.0E-06	11
rs1553603732	DES	1.000	0.160	2	219423784	frameshift variant	CCCATCCAGACCTACTC/-	delins		10
rs66492417	ABCC6	0.882	0.240	16	16178909	stop gained	G/T	snv		10
rs63749796	ABCC6	0.925	0.200	16	16159505	missense variant	C/G	snv		9
rs63750410	ABCC6	0.882	0.240	16	16155007	missense variant	C/G;T	snv	6.0E-06; 1.2E-05	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
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05	9
rs72664223	ABCC6	1.000	0.160	16	16221763	frameshift variant	T/-	del	4.1E-06	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
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
rs1555512158	ABCC6	0.925	0.200	16	16177554	missense variant	C/G	snv		6
rs1555514467	ABCC6	1.000	0.160	16	16188897	frameshift variant	AG/-	delins		6
rs63750428	ABCC6	0.925	0.200	16	16154767	missense variant	G/A;T	snv	4.9E-05	6
rs72653769	ABCC6	1.000	0.160	16	16190315	missense variant	A/T	snv	8.0E-06	6
rs72664203	ABCC6	1.000	0.160	16	16219948	splice acceptor variant	C/G	snv		6
rs72664239	ABCC6	0.925	0.200	16	16150646	frameshift variant	C/-	delins		6