DisGeNET - a database of gene-disease associations

List of shared variants

Liver and Intrahepatic Biliary Tract Carcinoma, C0279000

Disease: Malignant neoplasm of liver

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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	88
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs779555087	HNF4A	0.882	0.080	20	44414561	missense variant	A/G	snv	1.6E-05	1.4E-05	3
rs1046282	ERCC1 ; CD3EAP ; PPP1R13L	0.776	0.160	19	45407414	3 prime UTR variant	A/G	snv		0.30	10
rs1476081557	KMT2B	0.882	0.080	19	35721455	missense variant	G/T	snv		7.0E-06	3
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs2241715	TGFB1	0.851	0.120	19	41350981	5 prime UTR variant	A/C	snv		0.68	4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs3212948	ERCC1	0.776	0.160	19	45421104	intron variant	G/C	snv		0.53	10
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		34
rs28934571	TP53	0.645	0.360	17	7674216	missense variant	C/A;G	snv			31
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			37
rs587782237	TP53	0.882	0.080	17	7670637	missense variant	C/T	snv			3
rs769031989	STAT3	0.851	0.160	17	42322464	missense variant	T/A	snv		7.0E-06	4
rs2296651	SLC10A1	0.732	0.240	14	69778476	missense variant	G/A	snv	6.3E-03	2.5E-03	13
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs367597251	MDM2	0.807	0.080	12	68839587	missense variant	A/G	snv	1.5E-04	5.1E-04	10
rs764555290	KRT6A	0.882	0.080	12	52492759	missense variant	G/C	snv	1.2E-05	1.4E-05	3
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv		0.37	19
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22