DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Developmental delay (disorder)

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
rs398123001	PUF60	0.925		8	143818378	missense variant	G/A	snv			4
rs751569508	NCOR1	1.000		17	16194473	missense variant	G/A	snv	2.5E-05	1.4E-05	5
rs104894885	NDUFA1 ; RNF113A	0.851	0.120	X	119873312	missense variant	G/A;C	snv			5
rs121434618	BCOR	0.827	0.200	X	40075092	missense variant	G/A;C	snv	5.6E-06		7
rs34767364	NBN	0.701	0.280	8	89971232	missense variant	G/A;C	snv	2.5E-03		20
rs786203986	NALCN	0.925		13	101176371	missense variant	G/A;C	snv	4.3E-06		3
rs369867819	LOC107984360 ; LRRC32	0.851	0.320	11	76659963	stop gained	G/A;T	snv	4.0E-06		5
rs104894884	NDUFA1 ; RNF113A	0.882	0.040	X	119871933	missense variant	G/C	snv			4
rs398122855	PRPS1	0.882	0.240	X	107642384	missense variant	G/C	snv			5
rs1135402758	NUP214	1.000		9	131199023	intron variant	T/-	delins			5
rs1057517718	CLCN7	0.882	0.160	16	1447498	missense variant	T/C	snv			4
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs193929337	KCNJ11	0.827	0.160	11	17387937	missense variant	T/C	snv			6
rs367619008	DPYD	0.925	0.080	1	97828160	missense variant	T/C	snv	3.2E-05	3.5E-05	3
rs193929353	KCNJ11	0.882	0.120	11	17387206	missense variant	T/C;G	snv			4