DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Capillary malformation (disorder) ×

Variants associated to the Gene: PIK3CA ×

Results per page

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
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			23
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			15