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
rs1263282981	STX17-AS1 ; NR4A3	1.000	0.080	9	99828749	missense variant	C/T	snv		1.4E-05	2
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		83
rs531564	LINC00599 ; MIR124-1	0.672	0.480	8	9903189	non coding transcript exon variant	G/C	snv		0.14	27
rs2229765	IGF1R	0.807	0.280	15	98934996	synonymous variant	G/A	snv	0.40	0.39	7
rs1804689	HPS1 ; LOC101927278	1.000	0.080	10	98445350	5 prime UTR variant	G/T	snv		0.28	2
rs1406885199	HPS1	1.000	0.080	10	98433988	missense variant	C/A;T	snv	6.0E-06		2
rs360139		1.000	0.080	11	9753544	upstream gene variant	A/G	snv		0.62	1
rs6538697	LTA4H ; LOC102723340	1.000	0.080	12	96009832	non coding transcript exon variant	T/C	snv		0.13	2
rs78734480	NTN4	1.000	0.080	12	95682574	intron variant	T/C	snv		2.0E-02	1
rs8028726	LOC105370995	1.000	0.080	15	95588731	intergenic variant	G/T	snv		0.49	1
rs1524668	ADAM17	0.851	0.160	2	9557243	upstream gene variant	A/C	snv		0.64	4
rs12692386	ADAM17	0.827	0.160	2	9555777	5 prime UTR variant	A/G	snv		0.72	5
rs2281939	SORBS1	0.790	0.320	10	95414595	missense variant	T/C	snv	8.2E-02	0.13	9
rs7493	PON2	0.677	0.440	7	95405463	missense variant	G/C	snv	0.27	0.27	24
rs705381	PON1	1.000	0.080	7	95324637	upstream gene variant	T/C	snv		0.72	2
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs3742330	DICER1	0.662	0.640	14	95087025	3 prime UTR variant	A/G	snv		8.7E-02	24
rs17110453	CYP2C8	0.925	0.080	10	95069772	upstream gene variant	A/C	snv		0.11	2
rs1324214	F3	0.925	0.120	1	94531732	intron variant	G/A	snv		0.21	3
rs3917639		0.925	0.120	1	94527220	downstream gene variant	C/T	snv			2
rs13293512		0.763	0.360	9	94167461	intron variant	T/C	snv		0.24	11
rs42039	CDK6	1.000	0.080	7	92615108	3 prime UTR variant	C/T	snv	0.19	0.19	3
rs2666433	MIR34AHG ; MIR34A	0.925	0.080	1	9153118	intron variant	A/G	snv		0.82	2