DisGeNET - a database of gene-disease associations

List of associated variants

Aplasia/Hypoplasia of the corpus callosum, C1861866

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
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs776679653	ISCA1	0.827	0.200	9	86266174	missense variant	C/T	snv	4.2E-06		11
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs1564062144	HNRNPK	1.000		9	83972190	splice acceptor variant	C/T	snv			7
rs1553510492	TBR1			2	161419040	missense variant	A/G	snv			4
rs1555321402	FOXG1	0.925	0.240	14	28768345	frameshift variant	T/-	delins			3
rs869312662	ARX	1.000	0.040	X	25012988	frameshift variant	GTGAAC/TGGTACA	delins			2