DisGeNET - a database of gene-disease associations

List of associated variants

Liver carcinoma, C2239176

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
rs9261204	ZNRD1ASP	0.790	0.200	6	30037466	intron variant	A/G	snv		0.17	9
rs6940552	ZNRD1ASP	1.000	0.080	6	30044563	intron variant	G/A	snv		0.12	3
rs3757328	ZNRD1 ; ZNRD1ASP	0.851	0.120	6	30060575	non coding transcript exon variant	G/A	snv		9.8E-02	6
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs5751129	XRCC6 ; DESI1	0.752	0.320	22	41619761	intron variant	C/T	snv		0.69	14
rs132774	XRCC6	0.776	0.280	22	41635949	intron variant	C/G	snv		0.69	9
rs9288516	XRCC5	0.827	0.120	2	216188541	intron variant	T/A	snv		5.0E-02	6
rs80309960	XRCC5	0.851	0.080	2	216122110	missense variant	T/A	snv	3.5E-04	1.1E-03	4
rs16855458	XRCC5	0.925	0.120	2	216146098	intron variant	C/A	snv		0.16	2
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs3734091	XRCC4	0.689	0.280	5	83204915	missense variant	G/T	snv	2.3E-02	1.4E-02	19
rs28383151	XRCC4	1.000	0.080	5	83111054	missense variant	G/A	snv	4.3E-04	5.0E-04	1
rs745564626	XRCC3 ; KLC1	0.752	0.280	14	103699003	missense variant	C/G;T	snv	4.3E-05		14
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06		8
rs148611340	XRCC1	0.790	0.120	19	43543621	missense variant	G/A;C	snv	4.0E-06; 1.2E-05		7
rs199613843	XRCC1	0.807	0.160	19	43551609	synonymous variant	C/T	snv	4.0E-06	7.0E-06	6
rs2307191	XRCC1	0.827	0.120	19	43553616	missense variant	G/A	snv	1.2E-03	4.8E-03	5
rs72554204	XRCC1	0.827	0.120	19	43546062	missense variant	C/T	snv	1.2E-04	1.3E-04	5
rs200842482	XRCC1	0.851	0.120	19	43551592	missense variant	C/T	snv	1.6E-05	1.4E-05	4
rs2307181	XRCC1	0.851	0.120	19	43544170	synonymous variant	G/A;C	snv	6.1E-05		4
rs25490	XRCC1	0.851	0.120	19	43552189	missense variant	T/C	snv	7.2E-03	2.6E-02	4