DisGeNET - a database of gene-disease associations

List of associated variants

Ischemic stroke, C0948008

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
rs7158663	MEG3	0.827	0.240	14	100853087	non coding transcript exon variant	A/G	snv		0.42	9
rs4081134	MEG3	0.790	0.160	14	100855451	non coding transcript exon variant	G/A	snv		0.29	7
rs4919510	SEMA4G ; MIR608 ; MRPL43	0.641	0.520	10	100975021	mature miRNA variant	C/G	snv	0.27	0.27	32
rs1799889	SERPINE1	0.649	0.600	7	101126430	upstream gene variant	A/G	snv			31
rs763351020	SERPINE1	0.633	0.560	7	101132046	missense variant	C/T	snv	4.0E-06		35
rs4965814	SELENOS	1.000	0.080	15	101273712	intron variant	C/T	snv		0.62	2
rs34713741	SELENOS	0.882	0.280	15	101277671	upstream gene variant	C/A;T	snv		0.24	3
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs7136446	IGF1 ; LINC02456	0.882	0.160	12	102444737	intron variant	C/T	snv		0.66	8
rs11225395	MMP8	0.776	0.360	11	102725749	intron variant	A/C;G	snv			11
rs679620	MMP3	0.716	0.360	11	102842889	missense variant	T/C	snv	0.58	0.57	17
rs3025058	MMP3	0.658	0.600	11	102845217	upstream gene variant	-/C;G	ins		2.8E-04	26
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	18
rs2005108		1.000	0.080	11	102899623	downstream gene variant	C/G;T	snv			3
rs2295786	SH3PXD2A	1.000	0.080	10	103856724	upstream gene variant	A/G;T	snv			2
rs7950273	PDGFD	0.925	0.120	11	104160870	intron variant	C/G	snv		0.32	5
rs2066715	ABCA1	0.807	0.160	9	104825752	missense variant	C/T	snv	8.2E-02	5.5E-02	7
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs2740483	ABCA1 ; LOC105376196	0.882	0.120	9	104928254	intron variant	G/C	snv		0.75	3
rs1535459	PTPRD	1.000	0.080	9	10550204	intron variant	C/G	snv		1.1E-02	1
rs9797861	SLC44A2	0.790	0.200	19	10632450	intron variant	C/A;G;T	snv			9
rs783396	CRYBG1	1.000	0.080	6	106539495	missense variant	A/C	snv	0.93	0.93	2
rs2229383	ILF3	1.000	0.080	19	10683954	synonymous variant	G/A;C;T	snv	4.0E-06; 0.68		2