DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Profound intellectual disabilities ×

Variants associated to the Gene: HUWE1 ×

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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
rs1556914274	HUWE1	0.790	0.440	X	53537626	missense variant	G/A	snv			13
rs1556913180	HUWE1	0.882	0.280	X	53536488	missense variant	T/C	snv			5