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
rs2824292		0.925	0.080	21	17414857	regulatory region variant	G/A	snv		0.47	3
rs9978223		1.000	0.080	21	33398052	upstream gene variant	G/A	snv		0.24	1
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05		13
rs61688134	ABCC9	0.882	0.080	12	21864476	missense variant	C/T	snv	7.4E-03	7.5E-03	3
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs762890235	ACE2	0.827	0.240	X	15578220	missense variant	G/T	snv	3.8E-05	9.5E-06	5
rs1801253	ADRB1	0.683	0.440	10	114045297	missense variant	G/C	snv	0.74	0.69	34
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs1233347077	APOE	0.851	0.160	19	44905894	missense variant	G/C	snv		7.0E-06	4
rs11571836	BRCA2	0.827	0.200	13	32399302	3 prime UTR variant	A/G;T	snv			6
rs1799943	BRCA2	0.925	0.080	13	32316435	5 prime UTR variant	G/A;C;T	snv	0.25		5
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs760761240	CCL2	1.000	0.080	17	34256290	missense variant	G/A;C	snv	6.0E-05		1
rs2569190	CD14 ; TMCO6	0.620	0.560	5	140633331	intron variant	A/G	snv		0.57	39
rs771676129	CD36	0.827	0.080	7	80671082	synonymous variant	C/T	snv	4.0E-06		7
rs999947969	CD36	0.827	0.080	7	80671145	synonymous variant	C/T	snv			7
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	60
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs754889760	CHKB-CPT1B ; CPT1B	1.000	0.080	22	50571440	missense variant	T/C	snv	4.0E-06		1
rs1799821	CPT2	0.827	0.200	1	53210776	missense variant	G/A	snv	0.49	0.46	8
rs1064039	CST3	0.827	0.200	20	23637790	missense variant	C/G;T	snv	0.20		6