DisGeNET - a database of gene-disease associations

List of associated variants

Uterine Cervical Neoplasm, C0007873

Source: CLINVAR ×

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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
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv			7
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
rs1057519896	FBXW7	0.742	0.320	4	152326136	missense variant	C/A;T	snv			12
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			12
rs866987936	FBXW7	0.752	0.240	4	152326214	missense variant	C/A;G;T	snv			12
rs747241612	FBXW7	0.752	0.240	4	152326215	missense variant	G/C	snv	4.0E-06		12
rs1057519895	FBXW7	0.724	0.240	4	152328232	missense variant	C/A;G;T	snv			14
rs867384286	FBXW7	0.732	0.240	4	152328233	missense variant	G/A;C	snv	4.3E-06		14
rs1057519924	NFE2L2	0.807	0.200	2	177234080	missense variant	C/A	snv			6
rs1057519923	NFE2L2	0.807	0.200	2	177234081	missense variant	T/A	snv			6
rs1057519922	NFE2L2	0.790	0.200	2	177234082	missense variant	C/G;T	snv			7
rs1057519921	NFE2L2	0.763	0.240	2	177234231	missense variant	T/C	snv			7
rs1057519920	NFE2L2	0.790	0.160	2	177234232	missense variant	C/A;G;T	snv			7
rs749415085	PIK3CA	0.807	0.160	3	179198937	missense variant	C/A;G;T	snv			7
rs772110575	PIK3CA	0.807	0.160	3	179198938	missense variant	G/A;T	snv	4.0E-06		6
rs1057519929	PIK3CA	0.776	0.320	3	179199066	missense variant	G/A	snv			9
rs1057519931	PIK3CA	0.827	0.160	3	179199141	missense variant	G/C	snv			6
rs1057519933	PIK3CA	0.790	0.240	3	179199156	missense variant	A/G	snv			11
rs1057519935	PIK3CA	0.790	0.240	3	179199157	missense variant	A/G	snv			11
rs1057519934	PIK3CA	0.790	0.240	3	179199158	missense variant	G/C	snv			11
rs587777790	PIK3CA	0.732	0.280	3	179199690	missense variant	G/A	snv			12
rs1057519942	PIK3CA	0.724	0.320	3	179203760	missense variant	G/A	snv			15
rs1057519941	PIK3CA	0.776	0.240	3	179203761	missense variant	T/C;G	snv			9
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			21