DisGeNET - a database of gene-disease associations

List of associated variants

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, C3463992

Source: ALL

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
rs398122965	TBC1D24	0.807	0.280	16	2496872	missense variant	C/T	snv	1.2E-05	2.8E-05	13
rs398122967	TBC1D24	0.827	0.280	16	2498262	frameshift variant	T/-	del	7.4E-05	4.9E-05	12
rs104894743	ARX	0.807	0.200	X	25012937	missense variant	G/A	snv			7
rs756762196	WWOX	0.851	0.120	16	78425054	stop gained	C/G;T	snv	1.6E-05		4
rs387906492	ARX	0.882	0.160	X	25013660	inframe insertion	CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC	delins			3
rs387906493	ARX	0.882	0.120	X	25013544	inframe insertion	GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC	delins			3
rs398122854	ARX	0.882	0.040	X	25015657	stop gained	G/C	snv			3
rs398124510	ARX	0.882	0.160	X	25013531	inframe insertion	GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC	delins		6.8E-04	3
rs1057524191	TBC1D24	0.925	0.040	16	2496269	stop gained	C/T	snv			3
rs1555501140	TBC1D24	0.925	0.040	16	2496319	frameshift variant	C/-	delins			3
rs1567413218	TBC1D24	0.925	0.040	16	2498385	stop gained	C/G	snv			3
rs747538224	TBC1D24	0.925	0.040	16	2496993	missense variant	C/G	snv	1.8E-04	2.1E-05	3
rs587777248	WWOX	0.882	0.040	16	78108475	stop gained	C/A;T	snv	1.6E-05; 8.0E-06		3
rs104894746	ARX	0.925	0.160	X	25010274	stop gained	C/A;T	snv			2
rs1556056154	ARX	0.925	0.080	X	25013536	inframe insertion	-/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG	delins			2
rs587783191	ARX	0.925	0.160	X	25004894	frameshift variant	C/-	delins			2
rs869312662	ARX	1.000	0.040	X	25012988	frameshift variant	GTGAAC/TGGTACA	delins			2
rs932485786	ARX	1.000	0.040	X	25015654	stop gained	G/A;T	snv			2
rs886041766	LOC283856 ; DKFZP434H168 ; GNAO1	0.925	0.040	16	56192574	missense variant	G/A;T	snv			2
rs1060502727	WWOX	0.925	0.040	16	78115155	splice donor variant	G/C;T	snv	4.0E-06		2
rs1567542020	WWOX	0.925	0.040	16	78386926	stop gained	G/T	snv			2
rs201008667	WWOX	0.925	0.040	16	78109819	stop gained	C/G;T	snv	3.2E-05; 3.6E-05		2
rs878855021	WWOX	0.925	0.040	16	78425043	stop gained	C/G	snv			2
rs1365611175	ARX	1.000	0.040	X	25013654	inframe insertion	CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC/-;CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC	delins		9.9E-06	1
rs1556054888	ARX	1.000	0.040	X	25012956	missense variant	A/C	snv			1