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
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv			3
rs121913468	ERBB2	0.827	0.160	17	39724008	missense variant	G/A;C;T	snv			5
rs1057519889	EP300	0.807	0.200	22	41169525	missense variant	G/A;T	snv			6
rs1057519923	NFE2L2	0.807	0.200	2	177234081	missense variant	T/A	snv			6
rs1057519924	NFE2L2	0.807	0.200	2	177234080	missense variant	C/A	snv			6
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
rs121917759	HRAS ; LRRC56	0.790	0.480	11	533466	missense variant	G/A	snv			7
rs104894231	LRRC56 ; HRAS	0.776	0.360	11	533467	missense variant	C/G;T	snv			7
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv			7
rs1057519920	NFE2L2	0.790	0.160	2	177234232	missense variant	C/A;G;T	snv			7
rs1057519921	NFE2L2	0.763	0.240	2	177234231	missense variant	T/C	snv			7
rs1057519922	NFE2L2	0.790	0.200	2	177234082	missense variant	C/G;T	snv			7
rs749415085	PIK3CA	0.807	0.160	3	179198937	missense variant	C/A;G;T	snv			7
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			8
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
rs1057519928	PIK3CA	0.807	0.200	3	179221147	missense variant	A/C	snv			8
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9
rs1057519929	PIK3CA	0.776	0.320	3	179199066	missense variant	G/A	snv			9
rs1057519941	PIK3CA	0.776	0.240	3	179203761	missense variant	T/C;G	snv			9
rs867262025	PIK3CA	0.790	0.360	3	179221146	missense variant	G/A	snv			9
rs371769427	U2AF1	0.683	0.400	21	43104346	missense variant	G/A;T	snv	8.0E-06		9
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			10
rs1057519884	CREBBP	0.752	0.240	16	3738616	missense variant	C/A;T	snv			11
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv			11