DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Malignant neoplasm of breast

Source: BEFREE ×

Results per page

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
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121912664	TP53	0.630	0.320	17	7670699	missense variant	C/A;G;T	snv	1.2E-05		40
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		62
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		135
rs1219211410	CDC25B	0.925	0.080	20	3800494	missense variant	T/C	snv			3
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1364963022	ESR1	0.925	0.080	6	151944233	missense variant	G/C	snv	4.0E-06		4
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
rs147574894	NFKB1 ; LOC105377347	0.925	0.080	4	102600911	missense variant	A/G	snv	9.6E-05	3.9E-04	4
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs17577	SLC12A5-AS1 ; MMP9	0.649	0.520	20	46014472	missense variant	G/A;C	snv	0.16		30
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		45
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1799864	CCR2	0.572	0.680	3	46357717	missense variant	G/A	snv	0.13	0.12	66
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		106
rs200282497	ESR1	0.925	0.080	6	151944239	missense variant	G/C	snv	3.6E-05	3.5E-05	4
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs20576	TNFRSF10A	0.637	0.400	8	23200707	missense variant	T/G	snv	0.15	0.14	34
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	75
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs2229080	DCC	0.742	0.320	18	52906232	missense variant	C/A;G	snv	0.45		16
rs2230774	ROCK2	0.807	0.240	2	11218994	missense variant	G/C;T	snv	0.49		12