DisGeNET - a database of gene-disease associations

List of shared variants

Malignant neoplasm of urinary bladder, C0005684

Disease: Renal Cell Carcinoma

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
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42		72
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
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	68
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs156697	GSTO2	0.672	0.560	10	104279427	missense variant	A/G;T	snv	0.35		25
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs153109	IL27	0.623	0.600	16	28507775	intron variant	T/C	snv		0.43	37
rs17855750	IL27	0.695	0.480	16	28503907	missense variant	A/C;T	snv	6.4E-02; 4.0E-06		21
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	32
rs1805794	NBN	0.605	0.600	8	89978251	missense variant	C/G	snv	0.35	0.31	41
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs937475913	PRKDC	0.790	0.120	8	47936435	missense variant	T/C	snv	4.0E-06		7