DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of urinary bladder, C0005684

Source: CURATED ×

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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
rs2276109	MMP12	0.701	0.440	11	102875061	upstream gene variant	T/C	snv		9.2E-02	2
rs3740393	BORCS7-ASMT ; AS3MT	0.776	0.280	10	102876898	intron variant	G/C;T	snv			1
rs11191454	LOC107984265 ; BORCS7-ASMT ; AS3MT	0.776	0.160	10	102900247	intron variant	A/G	snv		7.9E-02	5
rs1046778	AS3MT ; BORCS7-ASMT ; LOC107984265	0.851	0.160	10	102901727	3 prime UTR variant	T/C	snv		0.30	1
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	1
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		2
rs786201675	ATM	0.925	0.320	11	108282838	frameshift variant	TTATT/-	delins			4
rs1801516	ATM	0.627	0.400	11	108304735	missense variant	G/A	snv	0.11	0.11	3
rs62185668		0.925	0.120	20	10981287	intron variant	C/A	snv		0.19	2
rs6104690	LINC02871	0.925	0.120	20	11007451	intron variant	G/A;T	snv			2
rs4813953	LINC02871	1.000	0.120	20	11010490	intron variant	T/C	snv		0.63	1
rs1476413	MTHFR	0.790	0.360	1	11792243	intron variant	C/G;T	snv	4.0E-06; 0.26	0.23	1
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	6
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	5
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			4
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	13
rs9642880	CASC11	0.776	0.240	8	127705823	intron variant	G/A;T	snv			3
rs10094872	CASC11	0.882	0.200	8	127707639	intron variant	A/T	snv		0.33	3
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	16
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	2
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	17
rs1057519958	RXRA	0.851	0.200	9	134436505	missense variant	C/A;T	snv			3
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs2294008	PSCA ; JRK	0.672	0.320	8	142680513	5 prime UTR variant	C/T	snv	0.46	0.45	7