DisGeNET - a database of gene-disease associations

List of shared variants

Epileptic encephalopathy, C0543888

Disease: X-linked infantile spasms

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
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			14
rs118192211	KCNQ2	0.790	0.080	20	63439644	missense variant	G/A;C	snv			9
rs587777057	GNAO1	0.827	0.040	16	56336744	missense variant	G/A	snv			8
rs1060499553	GABRA1	0.827	0.040	5	161890983	missense variant	G/A	snv			6
rs796052491	GABRA1	0.851	0.040	5	161890982	missense variant	T/A;C	snv			4
rs796052493	GABRA1	0.851	0.040	5	161895668	missense variant	G/A;T	snv			4
rs796053228	SCN8A	0.882	0.160	12	51807100	missense variant	C/G;T	snv			4
rs796053366	STXBP1	0.925	0.040	9	127673250	stop gained	C/T	snv			2