DisGeNET - a database of gene-disease associations

List of associated variants

Tonic - clonic seizures, C0494475

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
rs797044927	SCN2A	0.925	0.080	2	165388746	missense variant	G/A	snv			3
rs7588807	INHA	0.925	0.080	2	219574380	intron variant	G/T	snv		0.48	2
rs112894280	GABRG2	1.000	0.080	5	162093956	missense variant	A/G	snv	4.0E-06	1.4E-05	1
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1569315842	PCDH19	1.000	0.080	X	100408107	frameshift variant	-/G	delins			1