DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of liver, C0345904

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
rs843645	ACYP2	0.827	0.120	2	54247527	intron variant	T/A;G	snv		0.19	5
rs2241715	TGFB1	0.851	0.120	19	41350981	5 prime UTR variant	A/C	snv		0.68	4
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs1046282	ERCC1 ; CD3EAP ; PPP1R13L	0.776	0.160	19	45407414	3 prime UTR variant	A/G	snv		0.30	10
rs3212948	ERCC1	0.776	0.160	19	45421104	intron variant	G/C	snv		0.53	10
rs386656364	UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7	0.807	0.160	2	233682328	missense variant	CG/AA	mnv			8
rs771314938	UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7	0.807	0.160	2	233682328	frameshift variant	CG/-	del			8
rs879625015	UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8	0.807	0.160	2	233682328	frameshift variant	CG/A	delins			8
rs843706	ACYP2 ; TSPYL6	0.807	0.160	2	54253232	3 prime UTR variant	C/A	snv		0.42	6
rs769031989	STAT3	0.851	0.160	17	42322464	missense variant	T/A	snv		7.0E-06	4
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs750521832	MMP8	0.732	0.200	11	102718452	missense variant	A/G	snv	4.0E-06		14
rs6713088	ACYP2	0.763	0.200	2	54118332	intron variant	C/G	snv		0.48	9
rs843711	ACYP2	0.790	0.200	2	54251980	intron variant	C/T	snv		0.41	7
rs1682111	ACYP2	0.742	0.240	2	54200842	intron variant	A/T	snv		0.56	13
rs2296651	SLC10A1	0.732	0.240	14	69778476	missense variant	G/A	snv	6.3E-03	2.5E-03	13
rs1465444723	TCN2	0.827	0.240	22	30610886	missense variant	A/G	snv	4.0E-06		5
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs843720	ACYP2 ; LOC105374610	0.752	0.280	2	54283523	intron variant	T/G	snv		0.52	10
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35