DisGeNET - a database of gene-disease associations

List of associated variants

Liver and Intrahepatic Biliary Tract Carcinoma, C0279000

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
rs230530	NFKB1	0.882	0.080	4	102532823	intron variant	A/G	snv		0.37	4
rs230496	NFKB1	0.882	0.080	4	102567334	intron variant	G/A	snv		0.59	3
rs3811741	PLK4	0.882	0.080	4	127882004	intron variant	G/A	snv		0.74	3
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs867384693	HDAC3	0.851	0.120	5	141625349	missense variant	C/A;T	snv			6
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1800797	IL6 ; IL6-AS1 ; STEAP1B	0.605	0.800	7	22726602	non coding transcript exon variant	A/G	snv		0.72	43
rs1051861187	ABCB4	0.827	0.080	7	87409385	missense variant	A/G	snv			6
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	17
rs1330010954	DLC1	0.882	0.080	8	13094897	missense variant	C/T	snv	4.0E-06		4
rs372894000	DLC1	0.882	0.080	8	13092766	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs756966085	DLC1	0.882	0.080	8	13090431	missense variant	C/T	snv	8.0E-06	7.0E-06	4
rs2299939	PTEN	0.827	0.080	10	87897393	intron variant	C/A;T	snv			5
rs1234220	PTEN	0.851	0.080	10	87885716	intron variant	A/G	snv		9.1E-02	4
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111