DisGeNET - a database of gene-disease associations

List of associated variants

Acute Coronary Syndrome, C0948089

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
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs61361928	UGT2B7	1.000	0.040	4	69096657	missense variant	T/C	snv	2.6E-03	2.8E-03	1
rs659366	UCP2	0.724	0.520	11	73983709	non coding transcript exon variant	C/T	snv		0.40	17
rs190543502	TP53BP1	0.925	0.040	15	43464986	intron variant	T/A;C	snv			2
rs57578064	TOMM5	0.925	0.040	9	37590253	intron variant	G/A	snv		1.9E-02	2
rs3850641	TNFSF4	0.716	0.400	1	173206693	intron variant	A/G	snv		0.14	17
rs1234314	TNFSF4	0.790	0.320	1	173208253	upstream gene variant	C/A;G	snv			7
rs17568	TNFRSF4	0.752	0.320	1	1212042	synonymous variant	C/T	snv	0.37	0.31	12
rs151269874	TMEM231	0.925	0.040	16	75549741	intron variant	C/T	snv		6.2E-03	2
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs1202989817	SOD1 ; LOC102724449	0.716	0.360	21	31659813	missense variant	T/C;G	snv	8.0E-06	7.0E-06	18
rs1776964	SLC23A2	1.000	0.040	20	4899662	synonymous variant	G/A	snv	0.47	0.45	1
rs6139591	SLC23A2	1.000	0.040	20	4970713	intron variant	G/A	snv		0.40	1
rs5361	SELE ; C1orf112	0.623	0.720	1	169731919	missense variant	T/G	snv	8.3E-02; 8.0E-06	7.8E-02	47
rs11057830	SCARB1	0.851	0.040	12	124822507	intron variant	G/A	snv		0.15	5
rs2043556	PRKG1 ; MIR605	0.716	0.440	10	51299646	non coding transcript exon variant	T/C	snv	0.25	0.24	17
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs76863441	PLA2G7	0.672	0.440	6	46709361	missense variant	C/A	snv	4.5E-03	1.3E-03	25
rs11573156	PLA2G2A	0.882	0.240	1	19979653	5 prime UTR variant	G/C	snv		0.19	5
rs1129293	PIK3CG	0.882	0.040	7	106872566	synonymous variant	C/T	snv	0.32	0.26	3
rs12566888	PEAR1	0.807	0.280	1	156899255	intron variant	G/T	snv		0.26	7