DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of urinary bladder, C0005684

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
rs3730358	AKT1	0.724	0.360	14	104780070	intron variant	G/A;C	snv	0.16; 4.0E-03		14
rs1130233	AKT1	0.742	0.480	14	104773557	synonymous variant	C/T	snv	0.30	0.23	13
rs1130214	AKT1	0.742	0.280	14	104793397	5 prime UTR variant	C/A	snv		0.31	12
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
rs3136820	APEX1	0.776	0.200	14	20456995	missense variant	T/A;C;G	snv			8
rs3136817	APEX1 ; OSGEP	0.732	0.280	14	20456275	intron variant	T/C	snv		0.23	12
rs8041357	ARID3B	0.882	0.120	15	74577097	intron variant	T/C	snv		6.6E-02	3
rs11191439	AS3MT ; BORCS7-ASMT	0.851	0.120	10	102878966	missense variant	T/A;C	snv	9.2E-02		6
rs11191438	AS3MT ; BORCS7-ASMT	0.882	0.120	10	102878107	intron variant	G/A;C	snv			3
rs1046778	AS3MT ; BORCS7-ASMT ; LOC107984265	0.851	0.160	10	102901727	3 prime UTR variant	T/C	snv		0.30	4
rs10748835	AS3MT ; LOC107984265 ; BORCS7-ASMT	0.827	0.160	10	102900499	non coding transcript exon variant	G/A	snv		0.41	5
rs3759601	ATG2B	0.790	0.240	14	96311131	missense variant	G/C	snv	0.36	0.32	7
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	39
rs786201675	ATM	0.925	0.320	11	108282838	frameshift variant	TTATT/-	delins			4
rs1805105	AXIN1	0.776	0.280	16	346264	synonymous variant	A/G	snv	0.61	0.69	11
rs12921862	AXIN1	0.763	0.200	16	331927	intron variant	C/A	snv		0.18	10
rs370681	AXIN1	0.807	0.200	16	342461	intron variant	C/T	snv		0.48	6
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs9904341	BIRC5	0.695	0.280	17	78214286	5 prime UTR variant	G/A;C;T	snv	0.38; 4.8E-06		20
rs17655	BIVM-ERCC5 ; ERCC5	0.597	0.560	13	102875652	missense variant	G/C	snv	0.28	0.30	52
rs3740393	BORCS7-ASMT ; AS3MT	0.776	0.280	10	102876898	intron variant	G/C;T	snv			10
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs80357138	BRCA1	0.763	0.200	17	43094776	missense variant	C/T	snv	8.0E-06		9