DisGeNET - a database of gene-disease associations

List of associated variants

Epilepsy, C0014544

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
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
rs397514698	GNAQ	0.667	0.400	9	77797577	missense variant	C/T	snv			52
rs2236225	MTHFD1	0.614	0.640	14	64442127	missense variant	G/A	snv	0.44	0.38	52
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs118101777	IDH2	0.614	0.280	15	90087472	missense variant	C/T	snv	2.0E-03	1.6E-03	42
rs6295	HTR1A	0.645	0.200	5	63962738	intron variant	C/G	snv		0.49	40
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv			35
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs28933068	FGFR3	0.645	0.560	4	1805644	missense variant	C/A;G;T	snv	1.6E-05		30
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			30
rs57095329	MIR3142HG	0.677	0.480	5	160467840	intron variant	A/G	snv		7.8E-02	25
rs893924483	BDNF ; BDNF-AS	0.716	0.280	11	27658285	missense variant	C/A;T	snv	4.0E-06	1.4E-05	23
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			23
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17