DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Gene: PLEKHG2 ×

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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
rs370673772	PLEKHG2			19	39422762	missense variant	G/A	snv	1.1E-04	1.2E-04	1
rs201201843	PLEKHG2	0.925	0.160	19	39416866	missense variant	C/T	snv	3.6E-04	3.8E-04	1