DisGeNET - a database of gene-disease associations

List of associated variants

Electroencephalogram abnormal, C0151611

Source: INFERRED ×

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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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		62
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv			34
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	21
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs1064795760	BICD2	0.882	0.080	9	92719007	inframe deletion	ATT/-	del			14
rs1554110735	TFAP2A	0.776	0.200	6	10398693	frameshift variant	TT/-	delins			13
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv			12
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs121907966	HEXA	0.882	0.160	15	72345477	missense variant	G/A	snv	4.0E-06	1.4E-05	9
rs753242774	MIR1226 ; DHX30	0.882	0.120	3	47848237	missense variant	C/A;T	snv			9
rs1057519464	HEXA	0.925	0.160	15	72347711	missense variant	T/C;G	snv	4.0E-06		7
rs1057519466	HEXA	0.925	0.160	15	72346307	frameshift variant	G/-	del			7
rs1085308054	PTEN	0.827	0.160	10	87952231	frameshift variant	AT/-	delins			7