DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of liver, C0345904

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	Num. diseases
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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs28362491	LOC105377621 ; NFKB1	0.592	0.720	4	102500998	non coding transcript exon variant	ATTG/-	delins		56
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03	53
rs1051266	SLC19A1	0.627	0.640	21	45537880	missense variant	T/C;G	snv	0.55; 4.4E-06	41
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02	37
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv		37
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
rs1447295	CASC8	0.658	0.400	8	127472793	intron variant	A/C;T	snv		29
rs1039659576	MTR	0.689	0.520	1	236803473	missense variant	A/G	snv		21
rs750521832	MMP8	0.732	0.200	11	102718452	missense variant	A/G	snv	4.0E-06	14
rs1302103336	CHEK1	0.776	0.120	11	125637491	missense variant	T/C	snv	8.1E-06	12
rs386656364	UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7	0.807	0.160	2	233682328	missense variant	CG/AA	mnv		8
rs771314938	UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7	0.807	0.160	2	233682328	frameshift variant	CG/-	del		8
rs879625015	UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8	0.807	0.160	2	233682328	frameshift variant	CG/A	delins		8
rs737241	AFP	0.827	0.120	4	73451012	intron variant	G/A;C	snv		7
rs1051861187	ABCB4	0.827	0.080	7	87409385	missense variant	A/G	snv		6
rs867384693	HDAC3	0.851	0.120	5	141625349	missense variant	C/A;T	snv		6
rs1465444723	TCN2	0.827	0.240	22	30610886	missense variant	A/G	snv	4.0E-06	5
rs2299939	PTEN	0.827	0.080	10	87897393	intron variant	C/A;T	snv		5
rs5854292	EGFEM1P	0.851	0.080	3	168680960	intron variant	AA/-;A;AAA	delins		5
rs1330010954	DLC1	0.882	0.080	8	13094897	missense variant	C/T	snv	4.0E-06	4
rs587782237	TP53	0.882	0.080	17	7670637	missense variant	C/T	snv		3