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
rs193929337	KCNJ11	0.827	0.160	11	17387937	missense variant	T/C	snv			6
rs193929353	KCNJ11	0.882	0.120	11	17387206	missense variant	T/C;G	snv			4
rs193929358	KCNJ11	0.851	0.240	11	17387091	missense variant	C/T	snv			5
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
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs367619008	DPYD	0.925	0.080	1	97828160	missense variant	T/C	snv	3.2E-05	3.5E-05	3
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
rs121434618	BCOR	0.827	0.200	X	40075092	missense variant	G/A;C	snv	5.6E-06		7
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs2076101	APOBEC3F	0.925	0.080	22	39049549	missense variant	G/A	snv	0.52	0.44	3
rs1285524167	ABCC8	0.807	0.280	11	17475004	missense variant	C/T	snv	8.0E-06		8