DisGeNET - a database of gene-disease associations

List of shared variants

Dysmorphic features, C0432072

Disease: Intellectual Disability

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
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
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs587777308	GABRA1	0.763	0.040	5	161873196	missense variant	G/A	snv			14
rs121918524	PHF8	0.827	0.200	X	54011232	missense variant	A/G	snv			6
rs61751444	MECP2	0.882	0.080	X	154030903	missense variant	G/A	snv			5
rs1464216639	MAN1B1	1.000		9	137106289	stop gained	G/A	snv	6.1E-06		2