DisGeNET - a database of gene-disease associations

List of associated variants

Generalized myoclonic seizures, C4021759

Source: ALL

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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
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs863223953	YARS2 ; DNM1L	0.776	0.240	12	32731362	missense variant	C/T	snv			10
rs374259530	ADSL	0.925	0.200	22	40350018	missense variant	T/C	snv	3.6E-05	9.1E-05	5
rs756210458	ADSL	0.925	0.200	22	40354266	missense variant	C/G;T	snv	4.0E-06; 1.2E-05		5