DisGeNET - a database of gene-disease associations

List of shared variants

Malignant Uterine Corpus Neoplasm, C0153574

Disease: Colorectal Neoplasms

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
rs1057519945	POLE	0.776	0.200	12	132673703	missense variant	C/A;T	snv			4
rs1057519841	PIK3R1	0.925	0.120	5	68295269	missense variant	A/G	snv			5
rs1057519862	ERBB2	0.851	0.160	17	39723405	missense variant	G/A	snv			5
rs1057519943	POLE	0.790	0.160	12	132676598	missense variant	G/C;T	snv			5
rs1057519944	POLE	0.882	0.160	12	132676599	missense variant	G/A	snv			5
rs1057520009	XPO1	0.790	0.200	2	61492337	missense variant	C/T	snv	4.4E-06		5
rs1057520010	XPO1	0.882	0.200	2	61492336	missense variant	T/A;G	snv			5
rs1057519732	MAP2K1	0.827	0.160	15	66436824	missense variant	C/A;T	snv			6
rs1057519931	PIK3CA	0.827	0.160	3	179199141	missense variant	G/C	snv			6
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv			6
rs772110575	PIK3CA	0.807	0.160	3	179198938	missense variant	G/A;T	snv	4.0E-06		6
rs1057519738	MIR4728 ; ERBB2	0.790	0.160	17	39725079	missense variant	G/A	snv	4.0E-06		7
rs1057519890	ERBB2	0.807	0.200	17	39723966	missense variant	T/A	snv			7
rs1057519917	MTOR	0.807	0.160	1	11124517	missense variant	A/G;T	snv			7
rs121913470	ERBB2	0.776	0.200	17	39723967	missense variant	T/C;G	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
rs121913469	ERBB2	0.763	0.240	17	39723966	missense variant	TT/CC	mnv			8
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
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
rs1057519947	PPP2R1A	0.790	0.160	19	52212730	missense variant	G/A	snv			9
rs121913409	CTNNB1	0.708	0.400	3	41224646	missense variant	C/A;G;T	snv			9
rs121913413	CTNNB1	0.763	0.240	3	41224634	missense variant	C/A;T	snv			9
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			9