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
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs9642880	CASC11	0.776	0.240	8	127705823	intron variant	G/A;T	snv			9
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs72552316	TLR7	0.882	0.120	X	12889591	3 prime UTR variant	T/C	snv			3
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs12917	MGMT ; LOC105378560	0.605	0.480	10	129708019	missense variant	C/T	snv	0.14	0.14	45
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	42
rs1323541164	TSC1	1.000	0.120	9	132921834	missense variant	A/C	snv			1
rs118203385	TSC1	1.000	0.120	9	132923383	missense variant	A/C;G	snv			1
rs118203347	TSC1	1.000	0.120	9	132927208	missense variant	T/C	snv		7.0E-06	1
rs2031920	LOC107984284 ; CYP2E1	0.695	0.240	10	133526341	non coding transcript exon variant	C/T	snv		3.1E-02	20
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs77191406	TNFAIP3	0.790	0.280	6	137881704	3 prime UTR variant	C/T	snv		7.2E-04	12
rs11671784	MIR24-2 ; LOC284454 ; MIR23A ; MIR27A	0.790	0.240	19	13836482	non coding transcript exon variant	G/A	snv	1.2E-02	1.2E-02	9
rs744154	ERCC4	0.763	0.280	16	13921224	intron variant	G/C	snv		0.23	11
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
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
rs2978974	JRK ; PSCA	0.790	0.200	8	142670446	non coding transcript exon variant	G/A	snv		0.38	7
rs9297976	JRK ; PSCA	0.790	0.160	8	142670817	intron variant	T/C;G	snv			7
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	28
rs2976391	PSCA ; JRK	0.790	0.160	8	142681306	intron variant	C/A;G	snv	0.42; 2.5E-04		7
rs2976392	JRK ; PSCA	0.724	0.240	8	142681514	3 prime UTR variant	G/A	snv	0.46	0.45	15
rs138377917	PSCA	0.827	0.160	8	142682113	stop gained	G/A	snv	2.1E-02	2.2E-02	5