DisGeNET - a database of gene-disease associations

List of associated variants

Bladder Neoplasm, C0005695

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
rs11685387	XRCC5	0.776	0.240	2	216109091	splice region variant	C/T	snv		0.30	9
rs9288518	XRCC5	0.776	0.240	2	216196997	intron variant	A/G	snv		0.35	9
rs6869366	XRCC4 ; TMEM167A	0.701	0.280	5	83075927	intron variant	T/G	snv		9.2E-02	18
rs7727691	XRCC4 ; TMEM167A	0.763	0.200	5	83075876	intron variant	C/T	snv		0.32	9
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
rs28360071	XRCC4	0.708	0.240	5	83142293	intron variant	GATGAGGAAACTAACTCTCAGTGGTGTTTA/-	delins		0.48	18
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
rs861531	XRCC3 ; LOC112268131 ; KLC1	0.882	0.120	14	103706470	3 prime UTR variant	C/A	snv		0.32	3
rs1799794	XRCC3 ; KLC1	0.763	0.320	14	103712930	splice region variant	T/C	snv		0.22	12
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs3218373	XRCC2	0.827	0.120	7	152677078	upstream gene variant	C/A	snv		0.15	5
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
rs2854509	XRCC1	0.807	0.160	19	43570445	intron variant	T/G	snv		0.80	6
rs3213255	XRCC1	0.882	0.120	19	43573355	intron variant	G/A	snv		0.60	3
rs3213356	XRCC1	0.882	0.120	19	43554087	intron variant	C/T	snv		0.60	3
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs1799750	WTAPP1 ; MMP1	0.592	0.760	11	102799765	intron variant	C/-	delins		0.50	48
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs3025039	VEGFA	0.576	0.720	6	43784799	3 prime UTR variant	C/T	snv		0.13	62
rs25648	VEGFA	0.742	0.320	6	43771240	synonymous variant	C/G;T	snv	8.5E-06; 0.16		11