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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs763569821	MUC1	0.851	0.160	1	155188197	missense variant	T/C	snv	1.2E-05		4
rs12732894	ARHGEF10L	0.882	0.080	1	17582733	intron variant	G/A	snv		1.6E-02	3
rs2244444	ARHGEF10L	0.882	0.080	1	17520426	intergenic variant	C/T	snv		0.55	3
rs1682111	ACYP2	0.742	0.240	2	54200842	intron variant	A/T	snv		0.56	13
rs843720	ACYP2 ; LOC105374610	0.752	0.280	2	54283523	intron variant	T/G	snv		0.52	10
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
rs843706	ACYP2 ; TSPYL6	0.807	0.160	2	54253232	3 prime UTR variant	C/A	snv		0.42	6
rs843645	ACYP2	0.827	0.120	2	54247527	intron variant	T/A;G	snv		0.19	5
rs80309960	XRCC5	0.851	0.080	2	216122110	missense variant	T/A	snv	3.5E-04	1.1E-03	4
rs5854292	EGFEM1P	0.851	0.080	3	168680960	intron variant	AA/-;A;AAA	delins			5
rs745501336	RAB43 ; ISY1-RAB43	0.882	0.080	3	129091263	missense variant	C/T	snv	4.6E-05	7.0E-06	3
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins			56
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs2227306	CXCL8	0.677	0.680	4	73741338	intron variant	C/T	snv		0.31	21
rs4024	AFP	0.827	0.120	4	73435667	intron variant	G/A	snv		0.52	7
rs737241	AFP	0.827	0.120	4	73451012	intron variant	G/A;C	snv			7
rs230525	NFKB1	0.882	0.080	4	102537720	non coding transcript exon variant	G/A	snv		0.69	4