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
rs750521832	MMP8	0.732	0.200	11	102718452	missense variant	A/G	snv	4.0E-06		14
rs137854575	APC	0.807	0.120	5	112838399	stop gained	C/A;G;T	snv	4.7E-04		9
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
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
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs3753584	MTHFR ; CLCN6	0.827	0.080	1	11804529	5 prime UTR variant	T/C	snv		0.14	10
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs2167270	LEP	0.724	0.280	7	128241296	5 prime UTR variant	G/A	snv		0.37	17
rs14035	RAN	0.742	0.320	12	130876696	3 prime UTR variant	C/T	snv		0.33	15
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs2077647	ESR1	0.732	0.320	6	151807942	synonymous variant	T/A;C	snv	8.1E-06; 0.46		16
rs4696480	TLR2	0.716	0.400	4	153685974	intron variant	T/A	snv		0.45	19
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
rs629849	IGF2R	0.827	0.160	6	160073377	missense variant	A/C;G;T	snv	0.90	0.91	9
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			44
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs1501299	ADIPOQ ; ADIPOQ-AS1	0.597	0.720	3	186853334	intron variant	G/C;T	snv			52
rs975263	MACC1	0.827	0.120	7	20158817	stop gained	G/A;T	snv	0.34		7
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33