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
rs11121704	MTOR			1	11233902	intron variant	C/A;T	snv			3
rs7668666	TLR3	1.000		4	186080138	intron variant	C/A;T	snv			4
rs867114783	TP53			17	7675109	missense variant	T/C	snv			5
rs762471803	YAP1	0.925	0.040	11	102114201	missense variant	T/G	snv			6
rs1213469537	CAV1	0.882	0.080	7	116559145	missense variant	C/T	snv	4.0E-06	1.4E-05	9
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs2555639		0.851	0.080	4	174540379	non coding transcript exon variant	T/C	snv		0.38	7
rs60745952	LOC107986195 ; LOC105377481	0.925	0.080	4	148827842	intron variant	T/C	snv		0.13	6
rs1049074086	CTSD	0.925	0.120	11	1759567	missense variant	A/G	snv		7.0E-06	9
rs11662595	HRH4	0.882	0.120	18	24477006	missense variant	A/G	snv	8.6E-02	7.6E-02	7
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		6
rs2494752	AKT1	0.790	0.120	14	104797271	upstream gene variant	A/G	snv		0.85	10
rs373572	RAD18	0.882	0.120	3	8913705	missense variant	C/T	snv	0.68	0.70	6
rs3743073	CHRNA3	0.807	0.120	15	78617197	intron variant	G/T	snv		0.61	11
rs4149963	EXO1	0.851	0.120	1	241872080	missense variant	C/T	snv	0.11; 6.8E-05	7.6E-02	7
rs746429	SIPA1	0.882	0.120	11	65649963	synonymous variant	G/A	snv	0.31	0.30	8
rs121913444	EGFR	0.724	0.160	7	55191831	missense variant	T/A;C;G	snv			17
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs931127	SIPA1 ; PCNX3	0.790	0.160	11	65637829	upstream gene variant	G/A	snv		0.49	12
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs629367	MIR100HG ; MIRLET7A2	0.776	0.200	11	122146306	intron variant	C/A	snv		0.88	11
rs172378	C1QA	0.790	0.240	1	22638945	synonymous variant	A/G	snv	0.49	0.51	11
rs1800372	TP53	0.752	0.240	17	7674892	synonymous variant	T/A;C	snv	1.3E-02		15
rs2536	MTOR	0.776	0.240	1	11106656	3 prime UTR variant	T/C	snv		5.8E-02	11