DisGeNET - a database of gene-disease associations

List of shared variants

Liver carcinoma, C2239176

Disease: Glioma

Source: BEFREE ×

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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
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			213
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs121913499	IDH1	0.605	0.520	2	208248389	missense variant	G/A;C;T	snv			40
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs148611340	XRCC1	0.790	0.120	19	43543621	missense variant	G/A;C	snv	4.0E-06; 1.2E-05		7
rs17006625	KAT2B	0.925	0.080	3	20119604	missense variant	A/C;G	snv	4.0E-06; 3.3E-02		3
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs2298881	ERCC1	0.653	0.400	19	45423658	intron variant	C/A;T	snv			25
rs231775	CTLA4	0.504	0.720	2	203867991	missense variant	A/G;T	snv	0.42; 4.0E-06		114
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs3212986	CD3EAP ; ERCC1	0.620	0.400	19	45409478	stop gained	C/A;G;T	snv	0.29; 4.3E-06; 4.3E-06		42
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs6489769	RAD52	0.851	0.120	12	963799	intron variant	C/A;T	snv			4
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs199613843	XRCC1	0.807	0.160	19	43551609	synonymous variant	C/T	snv	4.0E-06	7.0E-06	6
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs72554204	XRCC1	0.827	0.120	19	43546062	missense variant	C/T	snv	1.2E-04	1.3E-04	5
rs2307191	XRCC1	0.827	0.120	19	43553616	missense variant	G/A	snv	1.2E-03	4.8E-03	5