DisGeNET - a database of gene-disease associations

List of associated variants

Transitional cell carcinoma of bladder, C0279680

Source: CLINVAR ×

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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
rs1057519949	RHEB	0.851	0.120	7	151490964	missense variant	A/T	snv			4
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
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			8
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
rs786201419	TP53	0.790	0.160	17	7675180	missense variant	C/A;T	snv			8
rs1057519920	NFE2L2	0.790	0.160	2	177234232	missense variant	C/A;G;T	snv			7
rs1057519732	MAP2K1	0.827	0.160	15	66436824	missense variant	C/A;T	snv			6
rs1057519931	PIK3CA	0.827	0.160	3	179199141	missense variant	G/C	snv			6
rs1057519862	ERBB2	0.851	0.160	17	39723405	missense variant	G/A	snv			5
rs1057519891	ERBB3	0.851	0.160	12	56088557	missense variant	G/A;T	snv	4.0E-06		5
rs1057519892	ERBB3	0.851	0.160	12	56088558	missense variant	A/T	snv			5
rs121913468	ERBB2	0.827	0.160	17	39724008	missense variant	G/A;C;T	snv			5
rs1057519911	MAPK1	0.776	0.160	22	21772875	missense variant	C/T	snv			3
rs28931588	CTNNB1	0.701	0.200	3	41224606	missense variant	G/A;C;T	snv			14
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv			13
rs1057519936	PIK3CA	0.776	0.200	3	179234284	missense variant	A/G;T	snv			11
rs1057519937	PIK3CA	0.776	0.200	3	179234285	missense variant	T/C	snv			11
rs121913228	CTNNB1	0.742	0.200	3	41224621	missense variant	T/C;G	snv			11
rs121913396	CTNNB1	0.732	0.200	3	41224607	missense variant	A/C;G;T	snv			11
rs1057519816	ERBB2	0.763	0.200	17	39711955	missense variant	C/A;T	snv			10
rs1057519926	PIK3CA	0.776	0.200	3	179210293	missense variant	A/T	snv			10
rs1057519928	PIK3CA	0.807	0.200	3	179221147	missense variant	A/C	snv			8
rs1057519890	ERBB2	0.807	0.200	17	39723966	missense variant	T/A	snv			7
rs1057519922	NFE2L2	0.790	0.200	2	177234082	missense variant	C/G;T	snv			7