DisGeNET - a database of gene-disease associations

List of shared variants

Congenital macrodactylia, C0265552

Disease: Colorectal Carcinoma

Source: UNIPROT ×

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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