DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Epileptic encephalopathy ×

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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
rs1135401733	HNRNPU	1.000	0.040	1	244856757	stop gained	G/A	snv			3
rs786205232	KCNA2	0.925	0.040	1	110603893	missense variant	C/T	snv	4.0E-06		3
rs764618040	LOC105378936 ; PHGDH	1.000	0.040	1	119726868	missense variant	C/T	snv	1.6E-05	2.1E-05	2
rs886041874	PHGDH	1.000	0.040	1	119721323	splice donor variant	T/C	snv	4.0E-06		2
rs1135401732	HNRNPU	1.000	0.040	1	244859303	stop gained	C/A;G;T	snv	4.0E-06		1
rs1135401734	SNORA100 ; HNRNPU	1.000	0.040	1	244855505	frameshift variant	AG/-	del			1
rs536000212	TRIT1	1.000	0.040	1	39854050	frameshift variant	G/-	delins		3.2E-04	1
rs779453109	HNRNPU	1.000	0.040	1	244863648	frameshift variant	GCCTTCCGCC/-	delins	1.2E-05	2.8E-05	1
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs1553525325	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.807	0.120	2	166002716	missense variant	A/T	snv			9
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs1057518801	SCN3A	0.851	0.080	2	165130238	missense variant	A/G	snv			3
rs796052957	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166054735	missense variant	A/G	snv			3
rs1057519524	SCN2A	0.925	0.040	2	165386837	missense variant	T/C	snv			2
rs1057519526	SCN2A	0.925	0.040	2	165344679	missense variant	C/T	snv			2
rs1057519527	SCN2A	0.925	0.040	2	165374743	missense variant	G/A	snv			2
rs1057519528	SCN2A	0.925	0.040	2	165310376	missense variant	G/A	snv			2
rs1553567473	SCN2A	0.925	0.040	2	165309193	missense variant	A/G	snv			2
rs794726754	SCN1A ; LOC102724058 ; SCN1A-AS1	0.925	0.040	2	165992262	frameshift variant	ACAA/-	delins			2
rs794727444	SCN2A	0.925	0.040	2	165389451	missense variant	G/A;T	snv			2
rs796053130	SCN2A	0.925	0.040	2	165373322	missense variant	C/T	snv			2
rs1057519529	SCN1A ; SCN1A-AS1	1.000	0.040	2	166043864	missense variant	C/G	snv			1
rs121917750	SCN2A	0.925	0.080	2	165386881	missense variant	C/G	snv			1
rs387906685	SCN2A	0.925	0.040	2	165380702	missense variant	A/C;G	snv			1
rs796053083	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165994177	frameshift variant	AA/-;A	delins			1