DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Neoplasms ×

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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		25
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			14
rs121913272	PIK3CA	0.752	0.400	3	179210192	missense variant	T/C;G	snv			11
rs121913284	PIK3CA	0.776	0.160	3	179203765	missense variant	T/A;G	snv			10
rs121913277	PIK3CA	0.925	0.280	3	179234302	missense variant	G/A;C	snv			2