DisGeNET - a database of gene-disease associations

List of associated variants

Myocardial Ischemia, C0151744

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
rs28357984	ND2 ; COX1	0.851	0.160	MT	5178	missense variant	C/A	snv			6
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs750249283	ABCG1	0.925	0.080	21	42296256	missense variant	C/G;T	snv	4.0E-06; 8.0E-06		2
rs1042579	THBD	0.732	0.240	20	23048087	missense variant	G/A;T	snv	0.19		16
rs2295490	TRIB3	0.724	0.320	20	388261	missense variant	A/G;T	snv	0.18; 4.0E-06		16
rs147377392	THBD	0.763	0.120	20	23048144	missense variant	A/G	snv	1.0E-04	2.8E-04	11
rs363050	SNAP25-AS1 ; SNAP25	0.790	0.240	20	10253609	intron variant	G/A	snv		0.57	8
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
rs544456198	LDLR	0.790	0.120	19	11116930	missense variant	G/T	snv	8.0E-06	2.8E-05	9
rs4147929	ABCA7	0.882	0.120	19	1063444	intron variant	A/C;G	snv			3
rs884164	PLIN4	0.925	0.040	19	4521613	upstream gene variant	A/G;T	snv			2
rs2639990	ZADH2	1.000	0.040	18	75203596	intron variant	T/C	snv		0.12	2
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs753152	RAMP2-AS1 ; RAMP2	0.882	0.160	17	42761487	intron variant	T/G	snv		0.12	6
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs5880	CETP	0.827	0.040	16	56981179	missense variant	G/C	snv	5.2E-02	3.7E-02	10
rs4359426	CCL22	0.925	0.120	16	57358821	missense variant	A/C;T	snv	0.92	0.94	3
rs4782371	ZFPM1	1.000	0.040	16	88502423	intron variant	T/A;G	snv			3
rs1320702652	MFAP1	0.752	0.160	15	43824536	missense variant	G/A	snv	4.0E-06		11