DisGeNET - a database of gene-disease associations

List of shared variants

Non-Small Cell Lung Carcinoma, C0007131

Disease: Breast 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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs9651118	MTHFR	0.683	0.480	1	11802157	intron variant	T/C	snv		0.18	20
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs1061624	TNFRSF1B	0.776	0.320	1	12207208	3 prime UTR variant	A/G	snv		0.48	8
rs1800449	LOX	0.641	0.400	5	122077513	missense variant	C/A;T	snv	4.0E-06; 0.17		33
rs16917496	KMT5A	0.689	0.360	12	123409283	3 prime UTR variant	C/G;T	snv			21
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs2853677	TERT	0.724	0.240	5	1287079	3 prime UTR variant	G/A	snv		0.63	19
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	48
rs2853669	TERT	0.649	0.320	5	1295234	upstream gene variant	A/G	snv		0.25	35
rs4636297	EGFL7 ; MIR126	0.724	0.360	9	136670698	intron variant	A/G	snv	0.67	0.65	14
rs895819	MIR23A ; LOC284454 ; MIR27A ; MIR24-2	0.623	0.560	19	13836478	non coding transcript exon variant	T/A;C;G	snv	0.34	0.38	46
rs941759532	ERCC4	0.763	0.240	16	13932175	missense variant	C/G	snv			11
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs2227928	ATR	0.851	0.200	3	142562770	missense variant	A/G	snv	0.55	0.63	6
rs12220909	MIR4293 ; FRMD4A	0.827	0.240	10	14383222	mature miRNA variant	G/C;T	snv	4.9E-03		5
rs3218536	XRCC2	0.620	0.440	7	152648922	missense variant	C/G;T	snv	4.0E-06; 6.4E-02		37
rs4645981	CASP9 ; DNAJC16	0.790	0.160	1	15524988	intron variant	G/A;C	snv			11
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs781598341	SOD2	0.827	0.240	6	159682510	missense variant	T/C	snv	4.0E-06		5