DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Primary malignant neoplasm

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
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
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			38
rs11662595	HRH4	0.882	0.120	18	24477006	missense variant	A/G	snv	8.6E-02	7.6E-02	7
rs1213469537	CAV1	0.882	0.080	7	116559145	missense variant	C/T	snv	4.0E-06	1.4E-05	9
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
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
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		21
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
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		23
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			17
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		83
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		135
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			55
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
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
rs1444669684	CDKN2B-AS1 ; CDKN2A	0.658	0.480	9	21994285	missense variant	C/A;T	snv			36
rs1458766475	C1orf112 ; SELE	0.637	0.680	1	169732649	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		41
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