DisGeNET - a database of gene-disease associations

List of associated variants

Tonic - clonic seizures, C0494475

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
rs1555452127	ALG1	0.742	0.400	16	5079078	missense variant	T/C	snv			34
rs369160589	ALG1	0.742	0.400	16	5082676	splice region variant	A/G	snv	1.0E-04	1.3E-04	35
rs137852776	EFHC1	0.827	0.080	6	52452799	missense variant	T/C	snv	3.5E-03	2.4E-03	5
rs74315390	KCNQ2	0.790	0.120	20	63439609	missense variant	C/G;T	snv			8
rs864309505	TPP1	0.807	0.200	11	6615220	missense variant	T/G	snv			10
rs771379232	MTHFS ; ST20-MTHFS	0.790	0.120	15	79845338	stop gained	G/A	snv	2.0E-05	3.5E-05	15
rs753635972	ST20-MTHFS ; MTHFS	0.790	0.120	15	79845388	missense variant	C/T	snv	3.2E-05	2.1E-05	15