DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Gene: PAK5 ×

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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
rs952665081	LOC105372523 ; PAK5	1.000	0.080	20	9580201	missense variant	A/G	snv			1
rs1484691555	PAK5	1.000	0.040	20	9539512	missense variant	C/T	snv	4.0E-06		1