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
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		42
rs72664239	ABCC6	0.925	0.200	16	16150646	frameshift variant	C/-	delins			6
rs63751241	ABCC6	0.882	0.280	16	16154638	missense variant	C/T	snv	4.0E-05	1.4E-05	12
rs63750428	ABCC6	0.925	0.200	16	16154767	missense variant	G/A;T	snv	4.9E-05		6
rs63751111	ABCC6	1.000	0.160	16	16154873	missense variant	C/G;T	snv	8.1E-06		7
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
rs28939702	ABCC6	0.851	0.320	16	16154899	missense variant	G/A;T	snv	8.2E-05		13
rs63750759	ABCC6	0.851	0.280	16	16154974	missense variant	G/A;T	snv	1.9E-04; 5.4E-06		11
rs63750410	ABCC6	0.882	0.240	16	16155007	missense variant	C/G;T	snv	6.0E-06; 1.2E-05		9
rs63749856	ABCC6	0.851	0.200	16	16155010	missense variant	C/T	snv	4.8E-05	2.8E-05	11
rs965791272	ABCC6	1.000	0.160	16	16155041	non coding transcript exon variant	G/A;C;T	snv			6
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
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05		9
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	12
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	21
rs60791294	ABCC6	0.882	0.280	16	16163086	missense variant	C/G;T	snv	7.6E-05		11
rs63750459	ABCC6	0.851	0.320	16	16163110	missense variant	G/A	snv	6.8E-05	6.3E-05	13
rs63749794	ABCC6	0.925	0.160	16	16163159	missense variant	G/A	snv	9.2E-05	4.2E-05	7
rs769437554	ABCC6	0.925	0.200	16	16165784	inframe deletion	AAG/-	delins	1.2E-05		6
rs72664209	ABCC6	0.827	0.240	16	16173283	splice donor variant	C/A	snv	8.0E-06; 1.2E-04	1.7E-04	12
rs749125777	ABCC6	1.000	0.160	16	16173287	missense variant	G/A;C	snv	4.0E-06; 8.0E-06		6
rs1481200467	ABCC6	0.925	0.200	16	16173393	stop gained	G/C;T	snv	4.0E-06	7.0E-06	7
rs1555512158	ABCC6	0.925	0.200	16	16177554	missense variant	C/G	snv			6
rs72653794	ABCC6	0.882	0.280	16	16177622	missense variant	C/T	snv	2.4E-05	2.8E-05	9