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
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs230530	NFKB1	0.882	0.080	4	102532823	intron variant	A/G	snv		0.37	4
rs230525	NFKB1	0.882	0.080	4	102537720	non coding transcript exon variant	G/A	snv		0.69	4
rs230496	NFKB1	0.882	0.080	4	102567334	intron variant	G/A	snv		0.59	3
rs5498	ICAM4 ; ICAM1	0.531	0.760	19	10285007	missense variant	A/G	snv	0.44	0.37	99
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	17
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv			29
rs3811741	PLK4	0.882	0.080	4	127882004	intron variant	G/A	snv		0.74	3
rs745501336	RAB43 ; ISY1-RAB43	0.882	0.080	3	129091263	missense variant	C/T	snv	4.6E-05	7.0E-06	3
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs756966085	DLC1	0.882	0.080	8	13090431	missense variant	C/T	snv	8.0E-06	7.0E-06	4
rs372894000	DLC1	0.882	0.080	8	13092766	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs1330010954	DLC1	0.882	0.080	8	13094897	missense variant	C/T	snv	4.0E-06		4
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs867384693	HDAC3	0.851	0.120	5	141625349	missense variant	C/A;T	snv			6
rs763569821	MUC1	0.851	0.160	1	155188197	missense variant	T/C	snv	1.2E-05		4
rs5854292	EGFEM1P	0.851	0.080	3	168680960	intron variant	AA/-;A;AAA	delins			5
rs2244444	ARHGEF10L	0.882	0.080	1	17520426	intergenic variant	C/T	snv		0.55	3