DisGeNET - a database of gene-disease associations

List of associated variants

Tumor Cell Invasion, C1269955

Source: ALL

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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
rs11801299	LOC105371692	0.807	0.200	1	204559956	downstream gene variant	G/A	snv		0.16	9
rs2069852		0.925	0.080	7	22732641	downstream gene variant	G/A;C	snv			4
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs1800624	PBX2 ; AGER	0.658	0.480	6	32184610	upstream gene variant	A/G;T	snv			33
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs2071559	KDR	0.667	0.680	4	55126199	upstream gene variant	A/G	snv		0.53	26
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
rs8179090	TIMP2	0.752	0.280	17	78925807	upstream gene variant	C/G	snv		1.6E-02	12
rs1194338		0.925	0.080	11	65493967	upstream gene variant	C/A;T	snv			3
rs1646724	SLC35B4	0.925	0.080	7	134317123	upstream gene variant	T/A;G	snv			3
rs1064793929	TP53	0.882	0.280	17	7675167	frameshift variant	A/-;AA	delins			5
rs868257011	PTEN	0.925	0.080	10	87961042	frameshift variant	TACTT/-	del			4
rs750802459	CASP3	1.000	0.120	4	184635342	frameshift variant	TCAGGATAATCCATTTTATAACTGTTGTCCAGGGATATTCCAGAGTC/-	delins		5.6E-05	2
rs1442033697	SERPINE1			7	101135780	frameshift variant	A/-	del			1
rs3798577	ESR1	0.742	0.320	6	152099995	3 prime UTR variant	T/C	snv		0.45	16
rs1046282	ERCC1 ; CD3EAP ; PPP1R13L	0.776	0.160	19	45407414	3 prime UTR variant	A/G	snv		0.30	10
rs11064	TNFAIP8	0.807	0.120	5	119393693	3 prime UTR variant	A/G	snv		0.27	9
rs3130	PROM1 ; FGFBP2	0.882	0.080	4	15968315	3 prime UTR variant	T/A;C	snv			6
rs4570	UTP23 ; RAD21	0.882	0.080	8	116846150	3 prime UTR variant	G/A	snv		0.70	4
rs8371	XIAP	0.925	0.120	X	123912065	3 prime UTR variant	C/T	snv	0.25	0.19	4
rs9856	XIAP	0.925	0.120	X	123911791	3 prime UTR variant	C/T	snv	0.57		4