DisGeNET - a database of gene-disease associations

List of shared variants

Neoplasm Metastasis, C0027627

Disease: Primary malignant neoplasm

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
rs762471803	YAP1	0.925	0.040	11	102114201	missense variant	T/G	snv			6
rs1284806277	MOK	0.827	0.200	14	102251978	missense variant	A/G	snv		1.4E-05	13
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	103
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06		54
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
rs11121704	MTOR			1	11233902	intron variant	C/A;T	snv			3
rs2295080	MTOR	0.695	0.320	1	11262571	upstream gene variant	G/C;T	snv			20
rs121913331	APC	0.851	0.120	5	112838934	stop gained	C/A;T	snv	8.0E-06		6
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			38
rs1213469537	CAV1	0.882	0.080	7	116559145	missense variant	C/T	snv	4.0E-06	1.4E-05	9
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		221
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
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
rs2981582	FGFR2	0.695	0.360	10	121592803	intron variant	A/G	snv		0.58	20
rs629367	MIR100HG ; MIRLET7A2	0.776	0.200	11	122146306	intron variant	C/A	snv		0.88	11
rs16901979	PCAT1 ; CASC19	0.724	0.480	8	127112671	intron variant	C/A	snv		0.16	16
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	55
rs2736098	TERT	0.600	0.600	5	1293971	synonymous variant	C/T	snv	0.29	0.22	46
rs766914563	LOC112268426 ; CXCR4	0.732	0.320	2	136115082	synonymous variant	C/T	snv		7.0E-06	16
rs371074389	LOC112268426 ; CXCR4	0.732	0.320	2	136115226	synonymous variant	C/T	snv	4.0E-06	4.2E-05	16
rs781172058	CXCR4	0.732	0.320	2	136115340	synonymous variant	C/T	snv	4.0E-06		16