DisGeNET - a database of gene-disease associations

List of associated variants

Myocardial Infarction, C0027051

Source: ALL

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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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs9635480	ABCC1	1.000	0.080	16	16000744	intron variant	A/G	snv		0.50	1
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs72653744	ABCC6	0.807	0.320	16	16163009	stop gained	G/A	snv	1.7E-04	1.2E-04	14
rs28939702	ABCC6	0.851	0.320	16	16154899	missense variant	G/A;T	snv	8.2E-05		13
rs63750459	ABCC6	0.851	0.320	16	16163110	missense variant	G/A	snv	6.8E-05	6.3E-05	13
rs72653762	ABCC6	0.851	0.240	16	16202006	missense variant	T/C	snv	5.6E-03	4.7E-03	13
rs72650699	ABCC6	0.851	0.280	16	16202045	stop gained	G/A	snv	4.8E-05	1.8E-04	12
rs72664209	ABCC6	0.827	0.240	16	16173283	splice donor variant	C/A	snv	8.0E-06; 1.2E-04	1.7E-04	12
rs66492417	ABCC6	0.882	0.240	16	16178909	stop gained	G/T	snv			10
rs72657692	ABCC6	0.851	0.280	16	16169667	missense variant	C/G;T	snv	4.1E-06; 2.5E-05		10
rs63750273	ABCC6	0.851	0.240	16	16157810	splice acceptor variant	C/T	snv	4.1E-05	1.4E-05	9
rs63750410	ABCC6	0.882	0.240	16	16155007	missense variant	C/G;T	snv	6.0E-06; 1.2E-05		9
rs66913554	ABCC6	0.882	0.240	16	16154644	stop gained	G/A	snv	2.0E-05	7.0E-06	7
rs72664208	ABCC6	0.882	0.240	16	16182799	splice region variant	C/T	snv		7.0E-06	7
rs63751215	ABCC6	0.882	0.240	16	16159556	missense variant	G/A	snv	1.6E-05	2.1E-05	6
rs72664207	ABCC6	0.882	0.240	16	16185039	splice region variant	A/C	snv	2.4E-05	1.4E-05	6
rs774648925	ABCC6	0.925	0.200	16	16190210	missense variant	A/G	snv	4.0E-06		6
rs63751279	ABCC6	0.925	0.200	16	16150204	missense variant	C/T	snv	6.0E-05	4.2E-05	5
rs72653800	ABCC6	0.925	0.200	16	16175934	missense variant	C/A;T	snv	8.0E-06		5
rs61688134	ABCC9	0.882	0.080	12	21864476	missense variant	C/T	snv	7.4E-03	7.5E-03	3
rs750249283	ABCG1	0.925	0.080	21	42296256	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		2
rs57137919	ABCG1 ; LOC105372814	0.776	0.160	21	42218908	intron variant	G/A	snv		0.14	9
rs514659	ABO	0.882	0.120	9	133266790	intron variant	C/A;T	snv			10
rs532436	ABO	1.000	0.080	9	133274414	intron variant	A/G;T	snv			3