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
rs1044006	NOTCH3	1.000	0.120	19	15174241	synonymous variant	T/A;C	snv	0.86		1
rs1799883	FABP2	0.658	0.440	4	119320747	missense variant	T/A;C;G	snv	0.73		36
rs1044009	NOTCH3	1.000	0.120	19	15160960	missense variant	G/A	snv	0.71	0.69	1
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1059703	IRAK1	0.851	0.280	X	154013378	missense variant	G/A	snv	0.67		6
rs4918	AHSG	0.763	0.400	3	186620593	missense variant	G/A;C	snv	0.67		12
rs5888	SCARB1	0.752	0.200	12	124800202	synonymous variant	A/G;T	snv	0.59; 4.0E-06		11
rs12659	SLC19A1	0.925	0.120	21	45531642	synonymous variant	A/G	snv	0.58	0.57	2
rs2270226	RBPJ	1.000	0.120	4	26415514	missense variant	T/A;C;G	snv	0.57		1
rs4245191	NLRX1	0.925	0.200	11	119182117	missense variant	C/A	snv	0.56	0.57	2
rs4523	TBXA2R	0.776	0.280	19	3595796	missense variant	A/G	snv	0.56	0.66	8
rs2536512	SOD3	0.752	0.280	4	24799693	missense variant	G/A;T	snv	0.55		14
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06		41
rs5925	LDLR	0.851	0.200	19	11120205	synonymous variant	T/C	snv	0.42	0.37	7
rs12218	SAA1	0.763	0.280	11	18269774	synonymous variant	T/C	snv	0.42	0.36	11
rs4769055	ALOX5AP	1.000	0.120	13	30735693	intron variant	C/A	snv	0.41	0.47	1
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	16
rs13412	P3H4 ; FKBP10	1.000	0.120	17	41811190	missense variant	T/A;C	snv	0.38	0.34	1
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs2230806	ABCA1	0.689	0.280	9	104858586	missense variant	C/T	snv	0.32	0.39	24
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs2108622	CYP4F2	0.742	0.280	19	15879621	missense variant	C/T	snv	0.27	0.22	20
rs494860	PCID2 ; PROZ	1.000	0.120	13	113164695	intron variant	T/A	snv	0.26	0.19	1