DisGeNET - a database of gene-disease associations

List of associated variants

Conventional (Clear Cell) Renal Cell Carcinoma, C0279702

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
rs555607708	CHEK2	0.667	0.360	22	28695869	frameshift variant	G/-	del	2.0E-03	1.8E-03	33
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		22
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	12
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			12
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			11
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			10
rs758175953	FLCN	0.827	0.240	17	17222500	splice donor variant	C/A;G	snv	1.6E-05		6
rs879255678	FLCN ; MPRIP	0.827	0.240	17	17215188	stop gained	G/A	snv		7.0E-06	6
rs137853236	HNF1A	0.807	0.280	12	120997504	missense variant	C/T	snv	1.2E-05		6
rs1555212014	HNF1A	0.807	0.280	12	120994264	missense variant	C/T	snv			6
rs754729248	HNF1A	0.807	0.280	12	120996568	missense variant	C/A;G;T	snv	2.4E-05; 1.9E-04; 3.6E-05		6
rs5030820	VHL	0.827	0.280	3	10149822	missense variant	C/G;T	snv	8.0E-06		6
rs587776825	HNF1A	0.827	0.280	12	120994315	frameshift variant	C/-;CC;CCC	delins			5
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			4
rs397516440	VHL	0.851	0.280	3	10142166	missense variant	C/G;T	snv	4.5E-06		4
rs137853247	HNF1A ; HNF1A-AS1	0.851	0.200	12	120978860	missense variant	G/A;C	snv	7.7E-04; 4.0E-06		3
rs5030809	VHL	0.776	0.320	3	10142139	missense variant	T/C	snv	1.3E-05		3
rs5030821	VHL	0.827	0.280	3	10149823	missense variant	G/A;C;T	snv	4.0E-06		3
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			2
rs750380279	CCDC127 ; SDHA	0.851	0.200	5	218357	start lost	T/A;C;G	snv	8.7E-06; 8.7E-06		2
rs1131691061	SDHB	0.827	0.280	1	17054017	start lost	C/T	snv			2
rs104893824	VHL	0.776	0.320	3	10142181	missense variant	T/A;C	snv			2
rs104893829	VHL	0.882	0.240	3	10142088	missense variant	C/T	snv	2.0E-04	3.8E-04	2
rs869025621	VHL	0.882	0.240	3	10142079	missense variant	A/C;G;T	snv			2
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	1