DisGeNET - a database of gene-disease associations

List of associated variants

Early myoclonic encephalopathy, C0270855

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
rs1195505218	SLC25A22	0.925	0.040	11	792142	missense variant	C/T	snv	4.1E-06		4
rs1565035177	SLC25A22	0.925	0.040	11	792146	frameshift variant	CA/-	delins			4
rs1554965669	SLC25A22	0.925	0.040	11	792888	stop gained	G/A	snv			2
rs121918334	SLC25A22	1.000	0.040	11	792429	missense variant	G/A	snv	1.2E-05	2.8E-05	1
rs121918335	SLC25A22	1.000	0.040	11	792340	missense variant	C/A	snv			1
rs587777243	SLC25A22	1.000	0.040	11	792954	missense variant	C/G	snv			1
rs797045969	SLC25A22	1.000	0.040	11	792722	stop gained	G/A	snv			1