DisGeNET - a database of gene-disease associations

List of shared variants

Hypoplasia of corpus callosum, C0344482

Disease: Severe intellectual disability

Source: CLINVAR ×

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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
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12
rs776291104	MED25	0.827	0.240	19	49829816	missense variant	C/T	snv	8.7E-06		12
rs1057518934	HERC2	0.851	0.240	15	28211095	frameshift variant	G/-	delins			8