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
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs2241715	TGFB1	0.851	0.120	19	41350981	5 prime UTR variant	A/C	snv		0.68	4
rs2244444	ARHGEF10L	0.882	0.080	1	17520426	intergenic variant	C/T	snv		0.55	3
rs2296651	SLC10A1	0.732	0.240	14	69778476	missense variant	G/A	snv	6.3E-03	2.5E-03	13
rs2299939	PTEN	0.827	0.080	10	87897393	intron variant	C/A;T	snv			5
rs230496	NFKB1	0.882	0.080	4	102567334	intron variant	G/A	snv		0.59	3
rs230525	NFKB1	0.882	0.080	4	102537720	non coding transcript exon variant	G/A	snv		0.69	4
rs230530	NFKB1	0.882	0.080	4	102532823	intron variant	A/G	snv		0.37	4
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		37
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
rs3212948	ERCC1	0.776	0.160	19	45421104	intron variant	G/C	snv		0.53	10
rs367597251	MDM2	0.807	0.080	12	68839587	missense variant	A/G	snv	1.5E-04	5.1E-04	10
rs372894000	DLC1	0.882	0.080	8	13092766	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs3787016	POLR2E	0.677	0.280	19	1090804	intron variant	A/G	snv		0.78	24
rs3811741	PLK4	0.882	0.080	4	127882004	intron variant	G/A	snv		0.74	3
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs4024	AFP	0.827	0.120	4	73435667	intron variant	G/A	snv		0.52	7
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64