DisGeNET - a database of gene-disease associations

List of shared variants

Abnormality of brain morphology, C4021085

Disease: Seizures

Source: CLINVAR ×

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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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs398122965	TBC1D24	0.807	0.280	16	2496872	missense variant	C/T	snv	1.2E-05	2.8E-05	13
rs398122967	TBC1D24	0.827	0.280	16	2498262	frameshift variant	T/-	del	7.4E-05	4.9E-05	12
rs201257588	TBC1D24	0.882	0.280	16	2496206	stop gained	C/G;T	snv	6.0E-05		9
rs398122966	TBC1D24	0.882	0.280	16	2496266	missense variant	C/T	snv	8.0E-06		9
rs398122968	TBC1D24	0.882	0.280	16	2499425	splice region variant	G/A	snv			9
rs747821285	TBC1D24	0.882	0.280	16	2496476	missense variant	G/A	snv	4.1E-06		9
rs760474458	TBC1D24	0.882	0.280	16	2496267	missense variant	G/A;C;T	snv	4.0E-06; 2.0E-05; 4.0E-06		9
rs797044548	TBC1D24	0.882	0.280	16	2498253	missense variant	G/T	snv			9
rs1553196101	CDC42	0.925	0.080	1	22086507	missense variant	T/C	snv			8