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
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
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
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
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
rs763569821	MUC1	0.851	0.160	1	155188197	missense variant	T/C	snv	1.2E-05		4
rs587782237	TP53	0.882	0.080	17	7670637	missense variant	C/T	snv			3
rs769031989	STAT3	0.851	0.160	17	42322464	missense variant	T/A	snv		7.0E-06	4
rs756966085	DLC1	0.882	0.080	8	13090431	missense variant	C/T	snv	8.0E-06	7.0E-06	4
rs745501336	RAB43 ; ISY1-RAB43	0.882	0.080	3	129091263	missense variant	C/T	snv	4.6E-05	7.0E-06	3
rs1476081557	KMT2B	0.882	0.080	19	35721455	missense variant	G/T	snv		7.0E-06	3
rs779555087	HNF4A	0.882	0.080	20	44414561	missense variant	A/G	snv	1.6E-05	1.4E-05	3
rs372894000	DLC1	0.882	0.080	8	13092766	missense variant	C/T	snv	2.0E-05	1.4E-05	4
rs764555290	KRT6A	0.882	0.080	12	52492759	missense variant	G/C	snv	1.2E-05	1.4E-05	3
rs367597251	MDM2	0.807	0.080	12	68839587	missense variant	A/G	snv	1.5E-04	5.1E-04	10