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
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs1154454	ADH7	0.925	0.120	4	99417185	intron variant	A/G	snv		0.22	2
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs11556218	IL16	0.653	0.600	15	81305928	missense variant	T/G	snv	9.6E-02	0.12	27
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11708581	DNAH1	0.827	0.160	3	52394972	synonymous variant	C/A	snv	8.3E-02	7.7E-02	5
rs11762213	MET	0.925	0.120	7	116699228	synonymous variant	G/A	snv	3.3E-02	3.3E-02	2
rs11813268		0.925	0.120	10	103922538	upstream gene variant	C/T	snv		0.31	2
rs11894252	EPAS1	0.925	0.120	2	46306237	intron variant	T/A;C;G	snv			3
rs12163565	DNAH1	0.827	0.160	3	52396510	missense variant	G/A	snv	0.19	0.16	5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs1222213359	VEGFA	0.574	0.720	6	43770966	missense variant	G/A	snv			62
rs12553173	ARHGEF39 ; CA9	1.000	0.120	9	35674104	synonymous variant	T/C	snv	0.14	0.20	1
rs1259293	FSTL1	0.925	0.120	3	120421014	intron variant	T/C	snv		0.59	2
rs12617313	EPAS1	0.925	0.120	2	46332637	intron variant	A/G;T	snv			2
rs1267580705	EPAS1	0.925	0.240	2	46360680	missense variant	G/A	snv			4
rs12921862	AXIN1	0.763	0.200	16	331927	intron variant	C/A	snv		0.18	10
rs12953717	SMAD7	0.724	0.240	18	48927559	intron variant	C/T	snv		0.36	18
rs1312268347	SARDH	0.925	0.120	9	133734172	start lost	A/G	snv	5.0E-06		4