DisGeNET - a database of gene-disease associations

List of shared variants

Growth delay, C0456070

Disease: Severe intellectual disability

Source: ALL

Results per page

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
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs796051881	PEX5	0.807	0.440	12	7202274	frameshift variant	-/A	delins			9
rs869025316	UNC80	0.925	0.160	2	209918616	missense variant	C/T	snv	3.8E-05	2.8E-05	4
rs869025317	UNC80	0.925	0.160	2	209959707	missense variant	G/C	snv			4
rs869025318	UNC80	0.925	0.160	2	209820379	frameshift variant	A/-	delins			4
rs869025319	UNC80	0.925	0.160	2	209967586	stop gained	T/A	snv			4