DisGeNET - a database of gene-disease associations

List of shared variants

Adenoma, C0001430

Disease: Adenoma of large intestine

Source: ALL

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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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs1801155	APC	0.649	0.440	5	112839514	missense variant	T/A	snv	8.0E-06; 2.0E-03	1.2E-03	42
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1463038513	APC	0.658	0.440	5	112839511	frameshift variant	TAAA/-	delins			36
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs17817449	FTO	0.716	0.560	16	53779455	intron variant	T/A;G	snv			21
rs10795668	LOC105376400	0.724	0.160	10	8659256	upstream gene variant	G/A	snv		0.24	17
rs1801166	APC	0.732	0.200	5	112839543	missense variant	G/C	snv	4.4E-03	5.6E-03	17
rs2070959	UGT1A8 ; UGT1A7 ; UGT1A9 ; UGT1A10 ; UGT1A6	0.742	0.320	2	233693545	missense variant	A/G	snv	0.31	0.30	16
rs3789243	ABCB1	0.776	0.120	7	87591570	intron variant	A/G	snv		0.50	14
rs770460061	GSTP1	0.742	0.240	11	67585239	missense variant	T/C;G	snv	4.0E-06; 1.2E-05		14