DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi ×

Variants associated to the Gene: PIK3CA ×

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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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		7
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			5
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		4
rs121913272	PIK3CA	0.752	0.400	3	179210192	missense variant	T/C;G	snv			3
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			1