DisGeNET - a database of gene-disease associations

List of associated variants

Cortical Dysplasia, C0431380

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
rs587776625	ADGRG1	0.851	0.080	16	57654103	frameshift variant	CAGGACC/-	delins			12
rs1553511224	TBR1	0.882	0.080	2	161423825	frameshift variant	-/C	delins			10
rs118203478	TSC1	0.882	0.200	9	132911492	frameshift variant	-/A;AA	delins			5
rs587783562	DCX	0.882	0.080	X	111401139	missense variant	G/A	snv			3
rs869312693	DYNC1H1	0.925	0.080	14	102034135	missense variant	C/T	snv			3
rs730882220	FAM20C	1.000	0.080	7	256001	missense variant	C/T	snv	7.1E-06		3