DisGeNET - a database of gene-disease associations

List of associated variants

Cerebral Infarction, C0007785

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
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	63
rs10304	SMTN ; SELENOM	0.925	0.120	22	31104550	3 prime UTR variant	G/A	snv		0.12	2
rs1042579	THBD	0.732	0.240	20	23048087	missense variant	G/A;T	snv	0.19		16
rs1044006	NOTCH3	1.000	0.120	19	15174241	synonymous variant	T/A;C	snv	0.86		1
rs1044009	NOTCH3	1.000	0.120	19	15160960	missense variant	G/A	snv	0.71	0.69	1
rs1050283	OLR1	0.882	0.160	12	10159690	3 prime UTR variant	G/A	snv		0.40	4
rs10507391	ALOX5AP	0.776	0.320	13	30737959	intron variant	A/T	snv		0.52	10
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs1057335	SERPINF2	0.827	0.120	17	1754359	missense variant	G/A	snv	0.22	0.20	5
rs1059703	IRAK1	0.851	0.280	X	154013378	missense variant	G/A	snv	0.67		6
rs10780199	CACNA1B	1.000	0.120	9	138058845	intron variant	G/A	snv		0.36	1
rs10846744	SCARB1	0.763	0.160	12	124827879	intron variant	G/C	snv		0.32	11
rs10898909	P2RY2	0.925	0.120	11	73241451	non coding transcript exon variant	G/A	snv		0.21	2
rs11053646	OLR1	0.724	0.280	12	10160849	missense variant	C/G	snv	0.11	0.13	18
rs11137351	CACNA1B ; LOC101928786	1.000	0.120	9	138045676	intron variant	C/G	snv		0.23	1
rs112735431	RNF213 ; RNF213-AS1	0.683	0.320	17	80385145	missense variant	G/A;C	snv	2.6E-04; 8.0E-06		24
rs1131882	TBXA2R	0.882	0.200	19	3595925	missense variant	G/A	snv	0.22	0.15	3
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11833579		0.827	0.200	12	666033	upstream gene variant	G/A	snv		0.25	6
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs1207570776	DNAJC10	1.000	0.120	2	182757711	missense variant	A/G	snv			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121918474	PROS1	0.763	0.320	3	93905799	missense variant	T/C	snv	2.8E-05	1.4E-05	11
rs12218	SAA1	0.763	0.280	11	18269774	synonymous variant	T/C	snv	0.42	0.36	11
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62