DisGeNET - a database of gene-disease associations

List of associated variants

Mental Retardation, X-Linked, C1136249

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
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs28934904	MECP2	0.776	0.200	X	154031431	missense variant	G/A;C;T	snv			9
rs121918524	PHF8	0.827	0.200	X	54011232	missense variant	A/G	snv			6
rs121918521	ATP6AP2	0.925	0.080	X	40597269	missense variant	C/T	snv			2
rs28935498	FGD1	0.925	0.080	X	54470182	missense variant	G/A	snv	3.1E-04	3.3E-04	2
rs137852351	GRIA3	0.925	0.080	X	123427954	missense variant	C/A	snv			2
rs368568228	GRIA3	0.925	0.080	X	123404763	missense variant	G/A	snv	2.7E-05	2.8E-05	2
rs587777605	MID2 ; LOC101928335	0.925	0.080	X	107905593	missense variant	G/A	snv	1.7E-05		2
rs866776696	DLG3	1.000	0.080	X	70445553	stop gained	G/T	snv			1
rs1433911627	KRBOX4	1.000	0.080	X	46472860	stop gained	G/T	snv	5.5E-06	9.5E-06	1
rs145438966	SLC6A8	1.000	0.080	X	153694800	missense variant	A/G	snv	1.6E-03	3.7E-04	1
rs781899045	SLC6A8	1.000	0.080	X	153695191	missense variant	G/A	snv	1.4E-05	3.8E-05	1
rs121918362	ZNF674	1.000	0.080	X	46501237	stop gained	C/A	snv			1