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
rs867262025	PIK3CA	0.790	0.360	3	179221146	missense variant	G/A	snv			9
rs1057519928	PIK3CA	0.807	0.200	3	179221147	missense variant	A/C	snv			8
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
rs121913277	PIK3CA	0.925	0.280	3	179234302	missense variant	G/A;C	snv			2