DisGeNET - a database of gene-disease associations

List of associated variants

Seizures, C0036572

Source: CURATED ×

Results per page

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
rs672601367	KIF1A	0.851	0.080	2	240785066	missense variant	T/G	snv			7
rs121917984	SCN1A-AS1 ; SCN1A	0.790	0.080	2	166052869	missense variant	G/A;C	snv			6
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
rs1553546045	PTH2R	0.925	0.200	2	208442425	missense variant	C/T	snv			5
rs869312663	SCN2A	0.882	0.200	2	165381114	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	4
rs1553510492	TBR1			2	161419040	missense variant	A/G	snv			4
rs775835429	SLC19A3	0.925	0.040	2	227702236	frameshift variant	-/TC	delins	2.4E-05	2.1E-05	4
rs794726710	SCN1A ; SCN1A-AS1 ; LOC102724058	0.882	0.160	2	166013812	stop gained	G/A	snv			4
rs875989830	SATB2	0.925	0.200	2	199348742	frameshift variant	AC/-	delins			4
rs1060503101	SCN2A	0.925	0.080	2	165388782	missense variant	C/T	snv			3
rs121917915	SCN1A-AS1 ; SCN1A ; LOC102724058	1.000	0.040	2	165994176	missense variant	C/A	snv			3
rs121917929	SCN1A-AS1 ; SCN1A	0.925	0.160	2	166046970	missense variant	G/A;T	snv			3
rs1553315329	SPAST			2	32116153	stop gained	C/A;T	snv			3
rs1553548194	SCN1A-AS1 ; SCN1A	1.000	0.080	2	166048938	inframe deletion	AAT/-	delins			3
rs587779595	COL3A1	0.925	0.200	2	189005351	missense variant	G/A	snv			3
rs768407867	CHRNA1	0.925	0.160	2	174748177	missense variant	C/T	snv	4.4E-05	3.5E-05	3
rs869312670	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.160	2	166013745	frameshift variant	A/-	del			3
rs1057519560	MYT1L	1.000		2	1917264	missense variant	A/G	snv			2
rs1105879	UGT1A9 ; UGT1A6 ; UGT1A7 ; UGT1A10 ; UGT1A8	0.790	0.240	2	233693556	missense variant	A/C	snv	0.35	0.34	2
rs121918622	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.790	0.080	2	165992332	missense variant	C/A;T	snv	4.0E-06		2
rs121918735	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166051906	missense variant	G/A;T	snv	3.2E-05		2
rs121918736	SCN1A-AS1 ; SCN1A	1.000	0.040	2	166037907	missense variant	G/A;C	snv			2
rs121918751	SCN1A ; SCN1A-AS1 ; LOC102724058	1.000	0.040	2	165991841	missense variant	A/C	snv			2