DisGeNET - a database of gene-disease associations

List of associated variants

Epilepsy, Myoclonic, Infantile, C0917800

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
rs376712059	TBC1D24	0.827	0.280	16	2496605	stop gained	G/A;C;T	snv	6.9E-05; 8.1E-06; 4.1E-06		5
rs267607103	TBC1D24	1.000	0.040	16	2496587	missense variant	G/A;C	snv	1.3E-04; 4.1E-06		1
rs267607104	TBC1D24	1.000	0.040	16	2496899	missense variant	T/C	snv			1
rs267607105	TBC1D24	1.000	0.040	16	2500822	missense variant	C/T	snv	8.3E-06	2.1E-05	1
rs545689324	TBC1D24	1.000	0.040	16	2496957	missense variant	G/A;T	snv	4.0E-05; 4.0E-06		1
rs748759187	TBC1D24	1.000	0.040	16	2497014	missense variant	C/G;T	snv	4.0E-06		1