DisGeNET - a database of gene-disease associations

List of associated variants

Transient Ischemic Attack, C0007787

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs17782313		0.683	0.480	18	60183864	intergenic variant	T/C	snv		0.24	34
rs2229616	MC4R	0.732	0.200	18	60372043	missense variant	C/T	snv	1.6E-02	1.6E-02	22
rs28935197	GLA ; RPL36A-HNRNPH2	0.776	0.280	X	101398942	missense variant	T/C	snv	5.5E-06		10
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		8
rs2071410	FURIN	0.882	0.160	15	90877710	intron variant	C/A;G;T	snv			7
rs9937053	FTO	0.882	0.160	16	53765595	intron variant	G/A	snv		0.42	6
rs121918632	LOC102724058 ; SCN1A-AS1 ; SCN1A	0.851	0.120	2	165996099	missense variant	A/G	snv		7.0E-06	5
rs1057335	SERPINF2	0.827	0.120	17	1754359	missense variant	G/A	snv	0.22	0.20	5
rs799454	SRP54-AS1	0.882	0.200	14	34927973	intron variant	A/G	snv		0.45	3