DisGeNET - a database of gene-disease associations

List of associated variants

Myocardial Infarction, C0027051

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
rs1239681664	ABCA1	0.716	0.320	9	104818690	synonymous variant	A/G	snv		7.0E-06	15
rs2066714	ABCA1	0.742	0.240	9	104824472	missense variant	T/C	snv	0.21	0.25	13
rs4149313	ABCA1	0.763	0.240	9	104824472	missense variant	T/C	snv			9
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs501192	CASP1	0.925	0.200	11	105029658	splice region variant	C/T	snv	0.17	0.15	3
rs1319501	NAMPT	0.882	0.120	7	106285307	intron variant	C/A;T	snv		0.76	4
rs2569512	ILF3	0.925	0.080	19	10679486	intron variant	T/C	snv		0.76	5
rs3087456	CIITA ; LOC105371080	0.742	0.480	16	10877045	intron variant	G/A	snv		0.53	14
rs7528419	CELSR2	0.851	0.080	1	109274570	3 prime UTR variant	A/G	snv		0.23	13
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	25
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			27
rs536289169	GSTM1 ; GSTM2	0.752	0.360	1	109688180	missense variant	C/T	snv	4.8E-04		13
rs1376251	TAS2R14 ; PRR4 ; PRH1 ; TAS2R50 ; PRH1-PRR4 ; PRH1-TAS2R14	0.882	0.160	12	10986253	missense variant	C/T	snv	0.40	0.28	3
rs9925481	CLEC16A	0.882	0.160	16	11003622	intron variant	C/G;T	snv			5
rs3742207	COL4A1	0.925	0.120	13	110166251	missense variant	T/A;G	snv	2.8E-05; 0.30		3
rs3809346	COL4A1 ; COL4A2	1.000	0.080	13	110308596	intron variant	G/A;C	snv			2
rs55940034	COL4A2	1.000	0.080	13	110390962	intron variant	A/G	snv		0.28	1
rs1122608	SMARCA4	0.763	0.120	19	11052925	intron variant	G/T	snv		0.18	16
rs55791371	SMARCA4	0.925	0.080	19	11077477	intron variant	A/C	snv		0.11	3
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs776421777	LDLR	0.882	0.160	19	11100246	stop gained	G/A;T	snv	2.4E-05		5
rs752596535	LDLR	0.752	0.200	19	11105407	stop gained	C/A;G;T	snv	1.6E-05		14
rs1131692208	MIR6886 ; LDLR	0.925	0.160	19	11113603	missense variant	C/T	snv			4
rs544456198	LDLR	0.790	0.120	19	11116930	missense variant	G/T	snv	8.0E-06	2.8E-05	9
rs1433099	SPC24 ; LDLR	0.882	0.160	19	11131982	3 prime UTR variant	T/A;C	snv			3