DisGeNET - a database of gene-disease associations

List of associated variants

Carcinoma of bladder, C0699885

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
rs11466445	TGFBR1	0.851	0.160	9	99105256	inframe insertion	GCGGCGGCGGCGGCG/-;GCG;GCGGCG;GCGGCGGCG;GCGGCGGCGGCG;GCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCG;GCGGCGGCGGCGGCGGCGGCGGCGGCG	delins			5
rs2304277	OGG1 ; CAMK1	0.776	0.280	3	9759396	non coding transcript exon variant	G/A	snv		0.26	8
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs125701	OGG1	0.790	0.160	3	9748794	upstream gene variant	G/A	snv		0.13	7
rs3759601	ATG2B	0.790	0.240	14	96311131	missense variant	G/C	snv	0.36	0.32	7
rs2155209	MRE11	0.776	0.240	11	94417624	3 prime UTR variant	T/C	snv		0.27	10
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs709816	NBN	0.752	0.320	8	89955483	synonymous variant	A/G	snv	0.47	0.51	10
rs1063054	NBN ; OSGIN2	0.807	0.160	8	89934373	3 prime UTR variant	T/G	snv		0.32	6
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			25
rs786204929	PTEN	0.752	0.200	10	87933144	stop gained	G/A;T	snv			12
rs2230641	CCNH	0.807	0.240	5	87399457	missense variant	A/G;T	snv	0.18	0.17	8
rs778990691	CCNH	0.807	0.240	5	87395069	missense variant	A/G	snv	4.0E-06		6
rs1805377	XRCC4	0.689	0.480	5	83353124	splice acceptor variant	G/A	snv	0.23	0.25	19
rs28360317	XRCC4	0.716	0.280	5	83323739	intron variant	-/CCT	delins		0.24	15
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
rs2075686	TMEM167A ; XRCC4	0.742	0.240	5	83076927	intron variant	C/T	snv		1.7E-02	13
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
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
rs5003154	PAG1	0.925	0.120	8	81074718	intron variant	T/C;G	snv			2
rs7211818	RPTOR	0.827	0.200	17	80715103	intron variant	A/G	snv		0.23	5
rs7212142	RPTOR	0.827	0.200	17	80650141	intron variant	G/A	snv		0.50	5
rs8179090	TIMP2	0.752	0.280	17	78925807	upstream gene variant	C/G	snv		1.6E-02	12