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	Num. diseases
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins	27
rs1555850842	KCNQ2	1.000	0.040	20	63407136	frameshift variant	-/G	delins	1
rs1057519542	CDKL5	1.000	0.040	X	18604372	frameshift variant	-/GACC	delins	1
rs1057518759	CDKL5	1.000	0.040	X	18604394	frameshift variant	-/GC	delins	2
rs796053335	SPTAN1	1.000	0.040	9	128632280	protein altering variant	-/GCATGC	delins	1
rs786200962	CACNA1A	0.827	0.120	19	13298768	frameshift variant	A/-	del	7
rs1569017337	KCNB1 ; LOC105372649	1.000	0.040	20	49374703	frameshift variant	A/-	del	1
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv	26
rs387906685	SCN2A	0.925	0.040	2	165380702	missense variant	A/C;G	snv	1
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
rs1057519540	SCN8A	0.925	0.160	12	51768895	missense variant	A/G	snv	2
rs1553567473	SCN2A	0.925	0.040	2	165309193	missense variant	A/G	snv	2
rs1555889108	LOC105372649 ; KCNB1	0.925	0.040	20	49374559	missense variant	A/G	snv	2
rs1569017174	KCNB1 ; LOC105372649	1.000	0.040	20	49374455	missense variant	A/G	snv	1
rs202151337	SCN8A	0.925	0.160	12	51806788	missense variant	A/G	snv	1
rs1553525325	SCN1A-AS1 ; LOC102724058 ; SCN1A	0.807	0.120	2	166002716	missense variant	A/T	snv	9
rs1555703272	SLC25A10	0.925	0.080	17	81715568	stop gained	A/T	snv	4
rs1057519536	KCNQ2	0.925	0.040	20	63442424	missense variant	A/T	snv	2
rs796053083	SCN1A-AS1 ; LOC102724058 ; SCN1A	1.000	0.040	2	165994177	frameshift variant	AA/-;A	delins	1
rs1057519538	STXBP1	1.000	0.040	9	127651622	inframe deletion	AAA/-	del	1
rs794726754	SCN1A ; LOC102724058 ; SCN1A-AS1	0.925	0.040	2	165992262	frameshift variant	ACAA/-	delins	2
rs786204967	CDKL5	1.000	0.040	X	18604169	frameshift variant	AG/-	delins	2
rs1135401734	SNORA100 ; HNRNPU	1.000	0.040	1	244855505	frameshift variant	AG/-	del	1
rs1569219844	CDKL5	1.000	0.040	X	18604845	frameshift variant	AG/-	del	1