DisGeNET - a database of gene-disease associations

List of associated variants

Uterine Cervical Neoplasm, C0007873

Source: ALL

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
rs1057519934	PIK3CA	0.790	0.240	3	179199158	missense variant	G/C	snv			11
rs1057519935	PIK3CA	0.790	0.240	3	179199157	missense variant	A/G	snv			11
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv			13
rs1057519941	PIK3CA	0.776	0.240	3	179203761	missense variant	T/C;G	snv			10
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			16
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			22
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv			19
rs11554273	GNAS	0.689	0.240	20	58909365	missense variant	C/A;G;T	snv	4.0E-06		22
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs121909229	PTEN	0.683	0.400	10	87933148	missense variant	G/A;C;T	snv			23
rs121912660	TP53	0.683	0.240	17	7673781	missense variant	C/A;G;T	snv			26
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv			14
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			33
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		26
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			23
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv			13
rs121913403	CTNNB1	0.683	0.240	3	41224622	missense variant	C/A;G;T	snv			23
rs121913468	ERBB2	0.827	0.160	17	39724008	missense variant	G/A;C;T	snv			7
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			28
rs121917759	HRAS ; LRRC56	0.790	0.480	11	533466	missense variant	G/A	snv			8
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			15
rs187084	TLR9	0.641	0.480	3	52227015	intron variant	A/G	snv		0.38	36