DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: MENTAL RETARDATION, X-LINKED 12 ×

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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
rs797045018	THOC2	1.000		X	123665715	missense variant	A/G	snv			1
rs797045019	THOC2	1.000		X	123668239	missense variant	G/A	snv			1
rs797045020	THOC2	1.000		X	123625935	missense variant	A/G	snv			1
rs797045021	THOC2	1.000		X	123631770	missense variant	A/G	snv			1