DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Malignant neoplasm of breast

Source: BEFREE ×

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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
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	20
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs3756824	PRL ; CASC15	0.925	0.080	6	22298508	intron variant	C/G;T	snv			3
rs3774937	NFKB1	0.776	0.280	4	102513096	intron variant	T/C	snv		0.26	4
rs3834129	CASP8	0.627	0.560	2	201232809	upstream gene variant	AGTAAG/-	del		0.48	38
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs397517132	EGFR	0.623	0.280	7	55191846	missense variant	A/T	snv			48
rs4442975	LOC101928278	0.827	0.120	2	217056046	intergenic variant	G/T	snv		0.47	7
rs5780218	KISS1	0.882	0.080	1	204196482	5 prime UTR variant	A/-	delins		0.44	4
rs6024836	FAM210B ; AURKA	0.851	0.160	20	56369012	downstream gene variant	G/A	snv		0.42	6
rs61764370	KRAS	0.662	0.320	12	25207290	3 prime UTR variant	A/C	snv		6.2E-02	29
rs6464926	EZH2	0.882	0.120	7	148821919	intron variant	C/T	snv		0.41	4
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	55
rs712	KRAS	0.677	0.360	12	25209618	3 prime UTR variant	A/C	snv		0.46	24
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			16
rs766914563	LOC112268426 ; CXCR4	0.732	0.320	2	136115082	synonymous variant	C/T	snv		7.0E-06	16
rs79036859	DAAM1	0.925	0.080	14	59369257	3 prime UTR variant	A/G	snv			3
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs920778	HOTAIR	0.633	0.480	12	53966448	intron variant	G/A	snv		0.57	36
rs931127	SIPA1 ; PCNX3	0.790	0.160	11	65637829	upstream gene variant	G/A	snv		0.49	12
rs1172398253	CCN1	0.925	0.080	1	85582045	missense variant	C/T	snv	4.0E-06		4
rs371074389	LOC112268426 ; CXCR4	0.732	0.320	2	136115226	synonymous variant	C/T	snv	4.0E-06	4.2E-05	16