DisGeNET - a database of gene-disease associations

List of associated variants

Acute myocardial infarction, C0155626

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
rs1042579	THBD	0.732	0.240	20	23048087	missense variant	G/A;T	snv	0.19		16
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs1049194905	SCN5A	0.925	0.080	3	38604063	synonymous variant	A/G	snv			2
rs1050286	OLR1	0.882	0.160	12	10158964	3 prime UTR variant	T/C	snv		0.40	3
rs1051931	PLA2G7	0.708	0.400	6	46705206	missense variant	A/G	snv	0.81	0.79	19
rs1053874	DNASE1 ; TRAP1	0.851	0.240	16	3657746	missense variant	G/A;T	snv	0.36; 4.0E-06		7
rs1064039	CST3	0.827	0.200	20	23637790	missense variant	C/G;T	snv	0.20		6
rs1076991	MTHFD1	0.925	0.200	14	64388323	5 prime UTR variant	T/C;G	snv	0.45; 8.1E-06		2
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs112443954	SIRT5 ; LOC105374937	1.000	0.080	6	13574259	upstream gene variant	G/C	snv		0.27	1
rs1131012	PECAM1	0.763	0.280	17	64350416	missense variant	T/C	snv		0.38	10
rs1140713	MIR126 ; EGFL7	1.000	0.080	9	136670833	intron variant	C/T	snv		0.13	1
rs11571836	BRCA2	0.827	0.200	13	32399302	3 prime UTR variant	A/G;T	snv			6
rs1175571390	ITGA2	1.000	0.080	5	53056071	missense variant	T/C	snv			1
rs1183027238	F7	1.000	0.080	13	113118480	synonymous variant	C/T	snv			1
rs1187513719	CYP2C19	0.851	0.200	10	94780595	missense variant	A/G	snv	4.0E-06		4
rs1191926239	TLR4	0.807	0.200	9	117704539	missense variant	C/G	snv	4.0E-06		7
rs1201493098	GP1BA ; CHRNE	1.000	0.080	17	4934295	missense variant	A/G	snv	4.0E-06	1.4E-05	1
rs12090554	LOC107985239 ; LINC01350	0.925	0.080	1	185583216	intron variant	G/A	snv		0.15	2
rs12095080	DIO1	1.000	0.080	1	53911057	3 prime UTR variant	A/G	snv		0.12	2
rs1217035505	P2RX7 ; LOC105370032	1.000	0.080	12	121184674	missense variant	G/A	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs1226052130	ITGB3	0.925	0.120	17	47299308	missense variant	G/A	snv	4.0E-06		2