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
rs367619008	DPYD	0.925	0.080	1	97828160	missense variant	T/C	snv	3.2E-05	3.5E-05	3
rs369867819	LOC107984360 ; LRRC32	0.851	0.320	11	76659963	stop gained	G/A;T	snv	4.0E-06		5
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs398122855	PRPS1	0.882	0.240	X	107642384	missense variant	G/C	snv			5
rs398123001	PUF60	0.925		8	143818378	missense variant	G/A	snv			4
rs587777585	VARS2	0.882		6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs587780455	SCN8A	0.827	0.160	12	51807116	missense variant	A/G	snv			7
rs751569508	NCOR1	1.000		17	16194473	missense variant	G/A	snv	2.5E-05	1.4E-05	5
rs786203986	NALCN	0.925		13	101176371	missense variant	G/A;C	snv	4.3E-06		3
rs80356611	KCNJ11	0.790	0.240	11	17387943	missense variant	C/A;G;T	snv	4.0E-06		10
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs80356618	KCNJ11	0.807	0.200	11	17387595	missense variant	C/A;T	snv			8
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs80356730	TARDBP	0.807	0.120	1	11022418	missense variant	A/G	snv	8.0E-06		7
rs886041459	TUBB3	0.925	0.080	16	89935140	missense variant	C/T	snv			3