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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs1137100	LEPR	0.627	0.640	1	65570758	missense variant	A/G	snv	0.30	0.25	39
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs7483	GSTM3 ; GSTM5	0.742	0.320	1	109737079	missense variant	C/T	snv	4.0E-06; 0.35	0.26	11
rs3021097	IL10 ; IL19	0.752	0.440	1	206773289	5 prime UTR variant	A/G	snv			10
rs1131691061	SDHB	0.827	0.280	1	17054017	start lost	C/T	snv			6
rs1332018	GSTM5 ; GSTM3	0.882	0.200	1	109740350	5 prime UTR variant	G/T	snv	0.64	0.66	6
rs11203289	SDHB	0.882	0.240	1	17054012	missense variant	G/A;C	snv	4.1E-06; 3.1E-03		3
rs2050462	CSF1	0.925	0.120	1	109930334	3 prime UTR variant	T/A;G	snv			2
rs333951	CSF1	0.925	0.120	1	109909068	upstream gene variant	T/C	snv		0.74	2
rs4381241	FAF1	0.925	0.120	1	50441766	intron variant	T/C	snv		0.51	2
rs1055259	GSTM3 ; GSTM5	1.000	0.120	1	109734239	3 prime UTR variant	T/C	snv		0.12	1
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59		46
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs6721961	NFE2L2	0.672	0.520	2	177265309	intron variant	T/C;G	snv		0.89	24
rs4988235	MCM6	0.752	0.400	2	135851076	intron variant	G/A;C	snv			19
rs1550117	DNMT3A	0.790	0.320	2	25343038	upstream gene variant	A/G;T	snv			11
rs3783521	IL1A	0.807	0.200	2	112786000	upstream gene variant	G/A	snv		0.26	8