DisGeNET - a database of gene-disease associations

List of shared variants

Generalized hypotonia, C1858120

Disease: Hypoplasia of corpus callosum

Source: INFERRED ×

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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
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			67
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1553212868	POGZ	0.807	0.280	1	151406264	frameshift variant	G/-	delins			17
rs1555038029	KMT2A	0.776	0.400	11	118477973	stop gained	C/A	snv			12
rs1557612048	ARID1A	0.807	0.200	1	26767868	missense variant	T/C	snv			11
rs1555493029	COG7	0.851	0.240	16	23406263	splice acceptor variant	C/A	snv			10
rs1555497604	COG7	0.851	0.240	16	23452993	start lost	A/G	snv			10
rs672601368	KIF1A	0.827	0.160	2	240785062	missense variant	C/G;T	snv			10