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
rs121434618	BCOR	0.827	0.200	X	40075092	missense variant	G/A;C	snv	5.6E-06		7
rs193929337	KCNJ11	0.827	0.160	11	17387937	missense variant	T/C	snv			6
rs587780455	SCN8A	0.827	0.160	12	51807116	missense variant	A/G	snv			7
rs1285524167	ABCC8	0.807	0.280	11	17475004	missense variant	C/T	snv	8.0E-06		8
rs80356618	KCNJ11	0.807	0.200	11	17387595	missense variant	C/A;T	snv			8
rs80356730	TARDBP	0.807	0.120	1	11022418	missense variant	A/G	snv	8.0E-06		7
rs80356611	KCNJ11	0.790	0.240	11	17387943	missense variant	C/A;G;T	snv	4.0E-06		10
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs80356624	KCNJ11	0.752	0.240	11	17387490	missense variant	C/A;T	snv			16
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs80356616	KCNJ11	0.732	0.360	11	17387917	missense variant	C/T	snv			19
rs34767364	NBN	0.701	0.280	8	89971232	missense variant	G/A;C	snv	2.5E-03		20
rs121913105	FGFR3	0.653	0.600	4	1806163	missense variant	A/C;T	snv			30
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			48