DisGeNET - a database of gene-disease associations

List of associated variants

Seizures, C0036572

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
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		96
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs1344706	ZNF804A	0.701	0.160	2	184913701	intron variant	A/C;T	snv			21
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1064795104	EXOC6B	0.790	0.440	2	72498492	stop gained	A/C	snv			17
rs121918799	SCN1A-AS1 ; SCN1A ; LOC102724058	0.752	0.120	2	166015636	missense variant	G/C	snv	1.7E-03	1.6E-03	14
rs1105879	UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8	0.790	0.240	2	233693556	missense variant	A/C	snv	0.35	0.34	11
rs1559193213	SCN1A-AS1 ; SCN1A ; LOC102724058	0.807	0.160	2	166036149	frameshift variant	-/G	delins			11
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		9
rs121917984	SCN1A-AS1 ; SCN1A	0.790	0.080	2	166052869	missense variant	G/A;C	snv			8
rs1057519443	MPP4	0.882	0.200	2	201675255	missense variant	A/G	snv			7
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs794726827	SCN1A ; SCN1A-AS1	0.827	0.120	2	166054637	splice donor variant	C/A;G;T	snv			6
rs1057519439	DNAH7	1.000	0.120	2	195787135	missense variant	A/G	snv			5
rs145999922	SLC19A3	0.882	0.040	2	227699378	missense variant	A/G	snv	4.4E-05	4.2E-05	5
rs1553546045	PTH2R	0.925	0.200	2	208442425	missense variant	C/T	snv			5
rs1805031	CACNB4	0.851	0.080	2	151880879	missense variant	C/A	snv	4.7E-04	7.3E-04	5
rs869312663	SCN2A	0.882	0.200	2	165381114	missense variant	A/G	snv			5
rs1553510492	TBR1			2	161419040	missense variant	A/G	snv			4
rs371308207	C1D	0.882	0.080	2	68047303	missense variant	C/A;T	snv	4.1E-06; 4.1E-06		4
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4