DisGeNET - a database of gene-disease associations

List of associated variants

Conventional (Clear Cell) Renal Cell Carcinoma, C0279702

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs34917480	EML6 ; RTN4	0.925	0.160	2	54972426	3 prime UTR variant	-/TTA	ins		7.0E-06	3
rs71682980	LINC00596	1.000	0.120	14	23855957	intergenic variant	A/-;AA;AAA;AAAA;AAAAA;AAAAAAA	delins			1
rs587782274	ATM ; C11orf65	1.000	0.120	11	108312465	missense variant	A/C	snv			1
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs7859384		0.882	0.120	9	79507370	intron variant	A/C;G	snv			6
rs6937133	DAAM2	0.925	0.120	6	39832238	intron variant	A/C;G	snv			2
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs2228570	VDR	0.521	0.760	12	47879112	start lost	A/C;G;T	snv	0.63		99
rs132793		0.851	0.160	22	41667677	downstream gene variant	A/C;G;T	snv			7
rs869025621	VHL	0.882	0.240	3	10142079	missense variant	A/C;G;T	snv			4
rs699947	VEGFA	0.570	0.680	6	43768652	upstream gene variant	A/C;T	snv			67
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs17855750	IL27	0.695	0.480	16	28503907	missense variant	A/C;T	snv	6.4E-02; 4.0E-06		21
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs1801275	IL4R	0.581	0.680	16	27363079	missense variant	A/G	snv	0.25	0.36	58
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	21
rs10434	VEGFA	0.701	0.480	6	43785475	3 prime UTR variant	A/G	snv		0.59	17