DisGeNET - a database of gene-disease associations

List of associated variants

Transitional cell carcinoma of bladder, C0279680

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
rs4987853	BCL2	1.000	0.120	18	63126422	3 prime UTR variant	T/C;G	snv		0.23	1
rs1057519780	MTOR	1.000	0.120	1	11127800	missense variant	C/T	snv			1
rs587777900	MTOR	1.000	0.120	1	11114363	missense variant	C/T	snv			1
rs142548892	SFXN1	1.000	0.120	5	175509071	missense variant	G/A;T	snv	1.2E-05; 4.0E-06		1
rs750802459	CASP3	1.000	0.120	4	184635342	frameshift variant	TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/-	delins		5.6E-05	2
rs1367215622	PHLPP2	1.000	0.120	16	71714618	missense variant	A/C	snv	4.0E-06		2
rs1057519958	RXRA	0.851	0.200	9	134436505	missense variant	C/A;T	snv			4
rs1057519961	SF3B1	0.851	0.240	2	197402759	missense variant	C/T	snv			4
rs775623976	SF3B1	0.851	0.240	2	197402760	missense variant	G/A;C	snv	4.0E-06		4
rs1057519956	CNOT9	0.827	0.200	2	218583025	missense variant	T/C	snv			5
rs1057519957	CNOT9	0.827	0.200	2	218583026	missense variant	C/G	snv			5
rs1057519862	ERBB2	0.851	0.160	17	39723405	missense variant	G/A	snv			5
rs1057519892	ERBB3	0.851	0.160	12	56088558	missense variant	A/T	snv			5
rs1057519950	RHEB	0.827	0.200	7	151490963	missense variant	T/A;C	snv			5
rs1801018	BCL2	0.851	0.240	18	63318646	synonymous variant	T/C	snv	0.37	0.32	6
rs1057519889	EP300	0.807	0.200	22	41169525	missense variant	G/A;T	snv			6
rs1057519891	ERBB3	0.851	0.160	12	56088557	missense variant	G/A;T	snv	4.0E-06		6
rs1057519897	FGFR1	0.807	0.240	8	38414788	missense variant	C/G;T	snv	4.0E-06		6
rs1057519732	MAP2K1	0.827	0.160	15	66436824	missense variant	C/A;T	snv			6
rs397516792	MAP2K1	0.827	0.280	15	66436825	missense variant	C/A;G;T	snv			6
rs1057519923	NFE2L2	0.807	0.200	2	177234081	missense variant	T/A	snv			6
rs1057519924	NFE2L2	0.807	0.200	2	177234080	missense variant	C/A	snv			6
rs1057519931	PIK3CA	0.827	0.160	3	179199141	missense variant	G/C	snv			6
rs1057519949	RHEB	0.851	0.120	7	151490964	missense variant	A/T	snv			6
rs798766	TACC3	0.851	0.120	4	1732512	intron variant	T/C	snv		0.76	6