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
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs3917643	F3	1.000	0.040	1	94536311	intron variant	T/C	snv		3.9E-02	1
rs2735383	OSGIN2 ; NBN	0.708	0.360	8	89935041	3 prime UTR variant	C/G	snv		0.31	18
rs12817819	ATP2B1	0.882	0.040	12	89645549	intron variant	C/T	snv		9.4E-02	3
rs114694170	MEF2C ; MEF2C-AS1	1.000	0.040	5	88884379	non coding transcript exon variant	T/C	snv		3.6E-02	5
rs4782371	ZFPM1	1.000	0.040	16	88502423	intron variant	T/A;G	snv			3
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs6834314		0.807	0.160	4	87292656	intergenic variant	A/G	snv		0.24	10
rs2639990	ZADH2	1.000	0.040	18	75203596	intron variant	T/C	snv		0.12	2
rs4717806	LOC105375350 ; STX1A ; BUD23	0.776	0.200	7	73702147	intron variant	T/A;C	snv			9
rs2293489	BUD23	0.925	0.120	7	73692949	non coding transcript exon variant	C/T	snv		0.26	2
rs11234027	NADSYN1	0.882	0.080	11	71523061	intron variant	G/A	snv		0.24	5
rs7944926	NADSYN1	0.807	0.200	11	71454579	intron variant	A/G	snv		0.54	7
rs17105278	RAD51B	0.925	0.080	14	68261762	intron variant	T/C	snv		0.36	2
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs10761741	JMJD1C	1.000	0.040	10	63306426	intron variant	G/T	snv		0.38	4
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs4359426	CCL22	0.925	0.120	16	57358821	missense variant	A/C;T	snv	0.92	0.94	3
rs1800777	CETP	0.724	0.280	16	56983407	missense variant	G/A	snv	3.7E-02	2.8E-02	17
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs5880	CETP	0.827	0.040	16	56981179	missense variant	G/C	snv	5.2E-02	3.7E-02	10
rs11591147	PCSK9	0.677	0.360	1	55039974	missense variant	G/A;T	snv	1.2E-02		28
rs28357984	ND2 ; COX1	0.851	0.160	MT	5178	missense variant	C/A	snv			6
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187