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
rs9340799	ESR1	0.583	0.680	6	151842246	intron variant	A/G	snv		0.32	62
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs10757278	CDKN2B-AS1	0.620	0.520	9	22124478	intron variant	A/G	snv		0.40	44
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs1800730	HFE ; LOC108783645	0.649	0.480	6	26090957	missense variant	A/T	snv	1.0E-02	1.0E-02	32
rs745738344	TNF	0.653	0.600	6	31576786	synonymous variant	G/A	snv	1.6E-05	1.4E-05	28
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs1799895	SOD3	0.683	0.360	4	24800212	missense variant	C/G	snv	2.3E-02	1.2E-02	26
rs5742904	APOB	0.689	0.280	2	21006288	missense variant	C/A;T	snv	2.8E-04	7.3E-04	22
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs1800888	ADRB2	0.695	0.400	5	148827322	missense variant	C/T	snv	9.1E-03	9.1E-03	23
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs2735383	OSGIN2 ; NBN	0.708	0.360	8	89935041	3 prime UTR variant	C/G	snv		0.31	18
rs12794714	CYP2R1	0.708	0.360	11	14892029	synonymous variant	G/A	snv	0.41	0.35	15
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs2295490	TRIB3	0.724	0.320	20	388261	missense variant	A/G;T	snv	0.18; 4.0E-06		16
rs552953108	F2	0.724	0.200	11	46729529	missense variant	G/A	snv	1.6E-05	4.2E-05	16