DisGeNET - a database of gene-disease associations

Source: CLINVAR

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
rs959316981	LOC105372649 ; KCNB1	0.925	0.040	20	49374377	missense variant	C/T	snv			2
rs886041874	PHGDH	1.000	0.040	1	119721323	splice donor variant	T/C	snv	4.0E-06		2
rs886041715	GNAO1 ; DKFZP434H168 ; LOC283856	0.827	0.040	16	56192353	missense variant	G/A;C;T	snv			2
rs886040861	GRIN2D	0.925	0.040	19	48419722	missense variant	G/A	snv			1
rs886039903	FGF12	0.807	0.200	3	192335434	missense variant	C/T	snv			4
rs879255709	SCN8A	0.925	0.160	12	51806434	missense variant	G/A	snv			2
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs879253748	GABRA1	0.882	0.040	5	161897251	frameshift variant	C/-	del			5
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs796053367	STXBP1	0.925	0.040	9	127675909	missense variant	C/T	snv			1
rs796053366	STXBP1	0.925	0.040	9	127673250	stop gained	C/T	snv			2
rs796053335	SPTAN1	1.000	0.040	9	128632280	protein altering variant	-/GCATGC	delins			1
rs796053228	SCN8A	0.882	0.160	12	51807100	missense variant	C/G;T	snv			3
rs796053216	SCN8A	0.851	0.160	12	51790401	stop gained	G/A;T	snv			4
rs796053130	SCN2A	0.925	0.040	2	165373322	missense variant	C/T	snv			1
rs796053083	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165994177	frameshift variant	AA/-;A	delins			1
rs796052957	SCN1A-AS1 ; SCN1A	0.925	0.040	2	166054735	missense variant	A/G	snv			3
rs794727444	SCN2A	0.925	0.040	2	165389451	missense variant	G/A;T	snv			1
rs794726754	SCN1A ; LOC102724058 ; SCN1A-AS1	0.925	0.040	2	165992262	frameshift variant	ACAA/-	delins			2
rs786205232	KCNA2	0.925	0.040	1	110603893	missense variant	C/T	snv	4.0E-06		3
rs786204967	CDKL5	1.000	0.040	X	18604169	frameshift variant	AG/-	delins			2
rs786200962	CACNA1A	0.827	0.120	19	13298768	frameshift variant	A/-	del			7
rs779453109	HNRNPU	1.000	0.040	1	244863648	frameshift variant	GCCTTCCGCC/-	delins	1.2E-05	2.8E-05	1
rs775162839	UGDH	1.000	0.040	4	39505705	missense variant	C/T	snv	4.8E-05	5.6E-05	1