DisGeNET - a database of gene-disease associations

List of shared variants

Intellectual Disability, C3714756

Disease: Mental Retardation, X-Linked 30

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
rs121434613	PAK3	0.882	0.240	X	111194402	missense variant	C/A	snv			4
rs121434614	PAK3	0.925	0.200	X	111196570	missense variant	G/C	snv			3
rs121434612	PAK3	1.000	0.080	X	111142119	missense variant	C/T	snv			2