DisGeNET - a database of gene-disease associations

List of shared variants

Malignant tumor of colon, C0007102

Disease: Liver carcinoma

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
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs34612342	MUTYH	0.653	0.400	1	45332803	missense variant	T/C	snv	1.5E-03	1.6E-03	32
rs36053993	MUTYH	0.677	0.280	1	45331556	missense variant	C/T	snv	3.0E-03	3.3E-03	31
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv		0.14	10
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs6588147	LEPR	0.851	0.080	1	65469811	intron variant	G/A	snv		0.70	4
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		115
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs121913412	CTNNB1	0.724	0.280	3	41224633	missense variant	A/C;G;T	snv			19
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs1800734	EPM2AIP1 ; MLH1	0.653	0.400	3	36993455	5 prime UTR variant	G/A	snv		0.22	30
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs3804099	TLR2	0.627	0.680	4	153703504	synonymous variant	T/C	snv	0.40	0.48	40
rs3804100	TLR2	0.633	0.720	4	153704257	synonymous variant	T/C	snv	9.0E-02	6.7E-02	36
rs4696480	TLR2	0.716	0.400	4	153685974	intron variant	T/A	snv		0.45	19
rs137854575	APC	0.807	0.120	5	112838399	stop gained	C/A;G;T	snv	4.7E-04		9
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs3830041	NOTCH4	0.752	0.280	6	32223562	intron variant	C/T	snv		0.11	12