DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Intellectual Disability ×

Variants associated to the Gene: PQBP1 ×

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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
rs1047322213	PQBP1	1.000	0.120	X	48902470	missense variant	G/A	snv			2
rs121917899	PQBP1	1.000	0.080	X	48901944	missense variant	A/G	snv			2