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
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs1042713	ADRB2	0.576	0.800	5	148826877	missense variant	G/A	snv	0.42	0.43	63
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs2228145	IL6R	0.602	0.720	1	154454494	missense variant	A/C;T	snv	0.38; 1.2E-05		57
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs1042714	ADRB2	0.597	0.640	5	148826910	stop gained	G/C;T	snv	0.68		54
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv		0.70	54
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs2241766	ADIPOQ ; ADIPOQ-AS1	0.608	0.720	3	186853103	synonymous variant	T/C;G	snv	8.0E-06; 0.13		48
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv		0.31	48
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46