DisGeNET - a database of gene-disease associations

List of associated variants

Tumor Cell Invasion, C1269955

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 GENOME	Num. diseases
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv	0.28	105
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv		72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv		72
rs2070744	NOS3	0.608	0.680	7	150992991	intron variant	C/T	snv	0.70	53
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv	0.14	53
rs2279744	MDM2	0.605	0.640	12	68808800	intron variant	T/G	snv	0.31	47
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv		42
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv		38
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv		35
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv	0.15	35
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv		33
rs1982073	TGFB1	0.649	0.640	19	41353016	missense variant	G/A;C	snv		32
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv		32
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv		31
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins	8.8E-02	31
rs531564	LINC00599 ; MIR124-1	0.672	0.480	8	9903189	non coding transcript exon variant	G/C	snv	0.14	27
rs2071559	KDR	0.667	0.680	4	55126199	upstream gene variant	A/G	snv	0.53	26
rs937283	MDM2	0.716	0.200	12	68808384	5 prime UTR variant	A/G	snv	0.37	19
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv	0.45	16
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv		16
rs11568818	MMP7	0.763	0.280	11	102530930	upstream gene variant	T/A;C	snv		15
rs2333227	MPO	0.752	0.320	17	58281401	upstream gene variant	C/T	snv	0.24	15
rs1927914	TLR4	0.732	0.520	9	117702447	upstream gene variant	G/A	snv	0.52	14