DisGeNET - a database of gene-disease associations

List of shared variants

Developmental regression, C1836830

Disease: Electroencephalogram abnormal

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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
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
rs387906309	HEXA	0.925	0.160	15	72346579	frameshift variant	-/GATA	delins	4.0E-06; 8.0E-04	4.5E-04	10
rs121907966	HEXA	0.882	0.160	15	72345477	missense variant	G/A	snv	4.0E-06	1.4E-05	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
rs121907972	HEXA	0.925	0.160	15	72353130	missense variant	G/A	snv	8.0E-06	1.4E-05	6