DisGeNET - a database of gene-disease associations

List of shared variants

Intellectual Disability, C3714756

Disease: Global developmental delay

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
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		37
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs387907281	ATP1A3	0.752	0.280	19	41970284	missense variant	C/T	snv			13
rs80338758	MED12	0.790	0.400	X	71127367	missense variant	C/A;T	snv			12
rs796052676	KCNQ3	0.807	0.200	8	132180246	missense variant	G/A	snv			10
rs774843232	PGAP2	0.851	0.080	11	3825024	missense variant	G/A;C;T	snv	8.0E-06; 3.6E-05; 1.2E-05		9
rs587777623	DEAF1	0.882	0.120	11	686986	missense variant	G/A	snv	4.0E-06		8
rs781908532	SLC25A1	0.827	0.160	22	19176585	missense variant	C/A;T	snv	4.0E-06; 1.6E-05	7.0E-06	8
rs397514627	CAMK2G	0.882	0.160	10	73842486	missense variant	C/A;G	snv			5