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
rs147377392	THBD	0.763	0.120	20	23048144	missense variant	A/G	snv	1.0E-04	2.8E-04	11
rs529038	ROS1	0.827	0.120	6	117301070	missense variant	C/G;T	snv	0.20	0.19	6
rs1057335	SERPINF2	0.827	0.120	17	1754359	missense variant	G/A	snv	0.22	0.20	5
rs3754701	RAMP1	0.882	0.120	2	237858561	upstream gene variant	A/C;T	snv			4
rs755703581	PDX1	0.925	0.120	13	27920295	missense variant	G/A	snv	2.3E-05	7.0E-06	3
rs7590387		0.882	0.120	2	237913557	downstream gene variant	G/A;C	snv			3
rs10304	SMTN ; SELENOM	0.925	0.120	22	31104550	3 prime UTR variant	G/A	snv		0.12	2
rs10898909	P2RY2	0.925	0.120	11	73241451	non coding transcript exon variant	G/A	snv		0.21	2
rs12659	SLC19A1	0.925	0.120	21	45531642	synonymous variant	A/G	snv	0.58	0.57	2
rs2072592	IGF1 ; LINC02456	0.925	0.120	12	102419854	intron variant	C/T	snv		2.8E-02	2
rs2278986	SCARB1	0.925	0.120	12	124814823	intron variant	A/G	snv		0.28	2
rs3731245	CDKN2A	0.925	0.120	9	21972446	intron variant	C/T	snv		6.6E-03	2
rs3769048	RAMP1	0.925	0.120	2	237861218	intron variant	G/A	snv		2.2E-02	2
rs4147064	ALOX5AP	1.000	0.120	13	30745981	intron variant	T/C	snv		0.50	2
rs710968	LIMK1	0.925	0.120	7	74083398	intron variant	A/G	snv		0.75	2
rs750272074	ROS1	1.000	0.120	6	117362705	synonymous variant	A/G	snv	4.0E-06		2
rs768963	CACTIN	0.925	0.120	19	3615409	non coding transcript exon variant	G/A;C	snv			2
rs7956547	IGF1	0.925	0.120	12	102465038	intron variant	T/C	snv		0.25	2
rs978458	IGF1 ; LINC02456	0.925	0.120	12	102408461	intron variant	T/C	snv		0.69	2
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
rs10780199	CACNA1B	1.000	0.120	9	138058845	intron variant	G/A	snv		0.36	1
rs11137351	CACNA1B ; LOC101928786	1.000	0.120	9	138045676	intron variant	C/G	snv		0.23	1
rs1207570776	DNAJC10	1.000	0.120	2	182757711	missense variant	A/G	snv			1
rs13412	P3H4 ; FKBP10	1.000	0.120	17	41811190	missense variant	T/A;C	snv	0.38	0.34	1