DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Colorectal Neoplasms ×

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
rs1057519938	PIK3CA	0.776	0.160	3	179203764	missense variant	A/C;T	snv			10
rs1057519939	PIK3CA	0.776	0.160	3	179203763	missense variant	A/C	snv			10
rs121913284	PIK3CA	0.776	0.160	3	179203765	missense variant	T/A;G	snv			10
rs749415085	PIK3CA	0.807	0.160	3	179198937	missense variant	C/A;G;T	snv			7
rs1057519931	PIK3CA	0.827	0.160	3	179199141	missense variant	G/C	snv			6
rs772110575	PIK3CA	0.807	0.160	3	179198938	missense variant	G/A;T	snv	4.0E-06		6
rs1057519699	PIK3CA			3	179218315	missense variant	G/A	snv			2