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
rs3024994	VEGFA	0.776	0.120	6	43775770	non coding transcript exon variant	C/T	snv		3.8E-02	8
rs1287276985	VEGFA	0.790	0.200	6	43782020	missense variant	T/A;C	snv	4.0E-06; 4.0E-06	7.0E-06	7
rs7439366	UGT2B7	0.752	0.320	4	69098620	missense variant	T/C	snv	0.56	0.57	16
rs386675647	UGT2B7	0.790	0.240	4	69098619	missense variant	AT/TC	mnv			10
rs765502022	UGT2B7	0.827	0.240	4	69112695	missense variant	T/C	snv	1.6E-05		8
rs17863783	UGT1A6 ; UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8	0.827	0.200	2	233693631	synonymous variant	G/T	snv	3.8E-02	5.5E-02	5
rs11892031	UGT1A10 ; UGT1A8	0.882	0.120	2	233656637	intron variant	A/C;T	snv			5
rs1322643228	TXNRD1	0.807	0.280	12	104321110	missense variant	C/T	snv		7.1E-06	6
rs377062126	TXNRD1	0.882	0.120	12	104319543	missense variant	G/A	snv	2.1E-05	3.5E-05	3
rs118203347	TSC1	1.000	0.120	9	132927208	missense variant	T/C	snv		7.0E-06	1
rs118203385	TSC1	1.000	0.120	9	132923383	missense variant	A/C;G	snv			1
rs1323541164	TSC1	1.000	0.120	9	132921834	missense variant	A/C	snv			1
rs35592567	TP63	0.827	0.160	3	189896847	3 prime UTR variant	C/G;T	snv			6
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1800371	TP53	0.742	0.240	17	7676230	missense variant	G/A;T	snv	1.2E-03		15
rs587783064	TP53	0.851	0.120	17	7669626	missense variant	C/A;T	snv			5
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs77191406	TNFAIP3	0.790	0.280	6	137881704	3 prime UTR variant	C/T	snv		7.2E-04	12
rs2075685	TMEM167A ; XRCC4	0.724	0.320	5	83076846	intron variant	G/A;T	snv			14
rs2075686	TMEM167A ; XRCC4	0.742	0.240	5	83076927	intron variant	C/T	snv		1.7E-02	13
rs72552316	TLR7	0.882	0.120	X	12889591	3 prime UTR variant	T/C	snv			3
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs9619311	TIMP3 ; SYN3	0.851	0.160	22	32800707	intron variant	T/C	snv		0.40	4