DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Colorectal Carcinoma ×

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		48
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		35
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			30
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			25
rs1057519925	PIK3CA	0.683	0.560	3	179210291	missense variant	G/A;C	snv			24
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			22
rs121913283	PIK3CA	0.724	0.440	3	179234286	missense variant	G/A;T	snv	4.0E-06		16
rs121913272	PIK3CA	0.752	0.400	3	179210192	missense variant	T/C;G	snv			12
rs772110575	PIK3CA	0.807	0.160	3	179198938	missense variant	G/A;T	snv	4.0E-06		7
rs1057519930	PIK3CA	1.000	0.080	3	179199142	missense variant	G/T	snv			1