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
rs2569190	CD14 ; TMCO6	0.620	0.560	5	140633331	intron variant	A/G	snv		0.57	39
rs794728448	KCNH2	0.724	0.280	7	150948445	frameshift variant	CT/G	delins			17
rs1805123	KCNH2	0.724	0.280	7	150948446	missense variant	T/A;C;G	snv	1.3E-05; 0.18; 8.4E-06		18
rs767910122	KCNH2	0.724	0.280	7	150948446	frameshift variant	-/GTCCG	ins		4.4E-05	17
rs1805120	KCNH2	0.882	0.080	7	150952443	synonymous variant	G/A	snv	0.30	0.26	3
rs740952	KCNH2	0.925	0.080	7	150952515	synonymous variant	G/A;T	snv	0.30; 7.2E-05		2
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs4220	FGB	0.925	0.080	4	154570607	missense variant	G/A	snv	0.17	0.15	6
rs762890235	ACE2	0.827	0.240	X	15578220	missense variant	G/T	snv	3.8E-05	9.5E-06	5
rs3798220	LPA	0.732	0.160	6	160540105	missense variant	T/C	snv	5.6E-02	3.1E-02	16
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs63751001	ABCC6	0.790	0.240	16	16159555	missense variant	C/T	snv	2.8E-05		13
rs72653706	ABCC6	0.695	0.480	16	16163078	stop gained	G/A	snv	1.4E-03	1.2E-03	32
rs751377893	F5	0.574	0.680	1	169546513	missense variant	T/C	snv	4.0E-06		65
rs6125	SELP	0.925	0.080	1	169613079	missense variant	C/T	snv	5.6E-02	5.2E-02	2
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs2824292		0.925	0.080	21	17414857	regulatory region variant	G/A	snv		0.47	3
rs12090554	LOC107985239 ; LINC01350	0.925	0.080	1	185583216	intron variant	G/A	snv		0.15	2
rs974453	SLCO1C1	1.000	0.080	12	20737008	intron variant	A/G;T	snv			3
rs61688134	ABCC9	0.882	0.080	12	21864476	missense variant	C/T	snv	7.4E-03	7.5E-03	3
rs2383207	CDKN2B-AS1	0.695	0.280	9	22115960	intron variant	A/G	snv		0.64	22